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
MUC16	94025	broad.mit.edu	37	19	9085534	9085534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9085534G>A	ENST00000397910.4	-	1	6484	c.6281C>T	c.(6280-6282)tCa>tTa	p.S2094L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2094	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGCAGCTGAAAAGAGTGG	0.473000													21	109					0	0	0.012319	0	0
LPHN2	23266	broad.mit.edu	37	1	82409292	82409292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:82409292C>T	ENST00000370728.1	+	8	1682	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	LPHN2_ENST00000370713.1_Missense_Mutation_p.T346I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T346I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T346I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T350I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T346I|LPHN2_ENST00000394879.1_Missense_Mutation_p.T346I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T346I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T346I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T346I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T346I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T346I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T346I|LPHN2_ENST00000359929.3_Missense_Mutation_p.T346I|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	346	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTATAATACCCGATTAAAC	0.378000													20	59					0	0	0.010504	0	0
CCNA1	8900	broad.mit.edu	37	13	37011836	37011836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:37011836C>T	ENST00000418263.1	+	3	715	c.365C>T	c.(364-366)cCt>cTt	p.P122L	CCNA1_ENST00000255465.4_Missense_Mutation_p.P123L|CCNA1_ENST00000440264.1_Missense_Mutation_p.P79L|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.P79L	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	123					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAAGCACTCCCTGACTGTGGG	0.493000													33	38					0	0	0.010818	0	0
DUOX1	53905	broad.mit.edu	37	15	45437255	45437255	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:45437255T>C	ENST00000321429.4	+	19	2706	c.2299T>C	c.(2299-2301)Ttt>Ctt	p.F767L	DUOX1_ENST00000389037.3_Missense_Mutation_p.F767L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F413L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	767					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGGAGACCTTTTTCAGGCA	0.587000													3	44					0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	20996554	20996554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20996554C>T	ENST00000261383.3	-	48	7509	c.7510G>A	c.(7510-7512)Gac>Aac	p.D2504N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2504	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGTTGATGTCCTCCACGAAT	0.517000													17	29					0	0	0.006122	0	0
ZNF208	7757	broad.mit.edu	37	19	22157610	22157610	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:22157610C>T	ENST00000397126.4	-	4	375		c.e4-1		ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Splice_Site	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAACATATAACTGAAAAGAAA	0.299000													7	9					0	0	0.003080	0	0
MIB2	142678	broad.mit.edu	37	1	1560564	1560564	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:1560564C>T	ENST00000357210.4	+	6	1110	c.895_splice	c.e6+1	p.L298_splice	MIB2_ENST00000504599.1_Splice_Site_p.L254_splice|MIB2_ENST00000378708.1_Splice_Site_p.L240_splice|MIB2_ENST00000378710.3_Splice_Site_p.L298_splice|MIB2_ENST00000360522.4_Splice_Site_p.L298_splice|MIB2_ENST00000505820.2_Splice_Site_p.L355_splice|MIB2_ENST00000355826.5_Splice_Site_p.L341_splice|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000520777.1_Splice_Site_p.L355_splice	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	298					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCCAAGGCTCGGTATGAGGC	0.642000													5	23					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	20994192	20994192	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20994192C>T	ENST00000261383.3	-	49	7709	c.7710G>A	c.(7708-7710)ggG>ggA	p.G2570G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2570	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGGCATCCCCTATTGGAC	0.522000													21	33					0	0	0.002780	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	38					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9060891	9060891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9060891G>A	ENST00000397910.4	-	3	26758	c.26555C>T	c.(26554-26556)cCt>cTt	p.P8852L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8854	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGATGGAGGGCTAGTTTT	0.522000													26	54					0	0	0.006320	0	0
MYH4	4622	broad.mit.edu	37	17	10355546	10355546	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:10355546G>A	ENST00000255381.2	-	27	3560	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1150					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCTCACTGATCTCCTCCA	0.612000													65	73					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69058471	69058471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:69058471G>A	ENST00000288368.4	+	34	4392	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1372					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAGCAGAAGGAAGTCGGCAA	0.328000													9	18					0	0	0.004482	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202469393	202469393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:202469393C>T	ENST00000439140.1	-	2	303	c.259G>A	c.(259-261)Gat>Aat	p.D87N	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D87N|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D87N|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D87N	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	87										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCTTCACTATCAGACTCTTTA	0.328000													13	66					0	0	0.002450	0	0
FAM149A	25854	broad.mit.edu	37	4	187074901	187074901	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:187074901C>G	ENST00000356371.5	+	5	1062	c.1062C>G	c.(1060-1062)tgC>tgG	p.C354W	FAM149A_ENST00000514153.1_Missense_Mutation_p.C63W|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.C63W|FAM149A_ENST00000389354.5_Missense_Mutation_p.C63W|FAM149A_ENST00000503432.1_Missense_Mutation_p.C63W|FAM149A_ENST00000502970.1_Missense_Mutation_p.C63W			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	354										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAGTGCCTGCGGACACAGCA	0.468000													40	98					0	0	0.008740	0	0
USP35	57558	broad.mit.edu	37	11	77920580	77920580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:77920580C>T	ENST00000529308.1	+	10	1940	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A291V|USP35_ENST00000530267.1_Missense_Mutation_p.A128V|USP35_ENST00000441408.2_Missense_Mutation_p.A146V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	560					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGCCCCCGGCCCCAAGTTCA	0.597000													14	14					0	0	0.002450	0	0
UCP1	7350	broad.mit.edu	37	4	141489766	141489766	+	Missense_Mutation	SNP	G	G	A	rs150067245	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:141489766G>A	ENST00000262999.3	-	1	193	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	40					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ACCTGGAGCCGGACTTTGGCC	0.592000													14	20					0	0	0.004990	0	0
ST18	9705	broad.mit.edu	37	8	53079421	53079421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:53079421G>A	ENST00000276480.7	-	11	1878	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	399						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTTCCAGGGGAACCCGCACT	0.547000													19	75					0	0	0.014323	0	0
FCRL6	343413	broad.mit.edu	37	1	159779289	159779289	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:159779289C>T	ENST00000321935.6	+	6	809	c.723C>T	c.(721-723)tcC>tcT	p.S241S	FCRL6_ENST00000392235.3_Silent_p.S139S|FCRL6_ENST00000339348.5_Silent_p.S234S|FCRL6_ENST00000368106.3_Silent_p.S234S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	234	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAGGGGCTCCCCTCCGATCC	0.597000													11	31					0	0	0.008291	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634438	156634438	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:156634438G>A	ENST00000296518.7	+	7	1484	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	GUCY1A3_ENST00000455639.2_Silent_p.L425L|GUCY1A3_ENST00000506455.1_Silent_p.L425L|GUCY1A3_ENST00000393832.3_Silent_p.L167L|GUCY1A3_ENST00000511507.1_Silent_p.L425L|GUCY1A3_ENST00000513574.1_Silent_p.L425L|GUCY1A3_ENST00000511108.1_Silent_p.L425L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	425					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAGATGGCCTGAAGAAGAGGC	0.512000													11	35					0	0	0.001855	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079242	120079242	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:120079242C>T	ENST00000307128.5	+	4	525	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	104							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCAGCAAGCCCCCTTGACTC	0.453000													23	69					0	0	0.003330	0	0
CACNA1B	774	broad.mit.edu	37	9	140777324	140777324	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:140777324C>T	ENST00000371372.1	+	3	664	c.519C>T	c.(517-519)gtC>gtT	p.V173V	CACNA1B_ENST00000371355.4_Silent_p.V173V|CACNA1B_ENST00000371357.1_Silent_p.V173V|CACNA1B_ENST00000371363.1_Silent_p.V173V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Silent_p.V173V|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	173					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTTCGTGGTCGTCCTCACAG	0.607000													35	120					0	0	0.004878	0	0
ALPK2	115701	broad.mit.edu	37	18	56203078	56203078	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:56203078G>A	ENST00000361673.3	-	5	4554	c.4341C>T	c.(4339-4341)atC>atT	p.I1447I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1447							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGCCGGCTGGATTTCCGCTT	0.527000													24	41					0	0	0.004656	0	0
CD93	22918	broad.mit.edu	37	20	23065357	23065357	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:23065357C>T	ENST00000246006.4	-	1	1620	c.1473G>A	c.(1471-1473)ggG>ggA	p.G491G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	491					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACGGTGCTCCCTTCTTTCT	0.637000													8	45					0	0	0.010729	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596750	142596750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:142596750C>T	ENST00000370503.2	-	2	403	c.320G>A	c.(319-321)gGa>gAa	p.G107E	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	107										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGAAGGTCCTTCACATGG	0.473000													30	52					0	0	0.008361	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419286	46419286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:46419286G>A	ENST00000458649.2	-	18	4029	c.3611C>T	c.(3610-3612)tCc>tTc	p.S1204F	AMBRA1_ENST00000528950.1_Missense_Mutation_p.S1175F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S1175F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S1114F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S1144F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S1144F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S1085F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1204					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGGGGTGAGGAGGTGTGGGC	0.667000													5	15					0	0	0.001984	0	0
SLC7A14	57709	broad.mit.edu	37	3	170219037	170219037	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:170219037G>A	ENST00000231706.4	-	3	717	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	134						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCAGCCAATGAAAAATGCCA	0.537000													7	17					0	0	0.003080	0	0
SYN2	6854	broad.mit.edu	37	3	12225026	12225026	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:12225026C>T	ENST00000432424.2	+	0	1695							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAGACCCTCCCACTGGTGCCG	0.453000													10	14					0	0	0.006214	0	0
PSG7	5676	broad.mit.edu	37	19	43441196	43441196	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:43441196C>T	ENST00000446844.3	-	0	122				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGGTTATATGCTGTGTGCAGG	0.572000													27	47					0	0	0.013726	0	0
CDCA2	157313	broad.mit.edu	37	8	25340941	25340941	+	Silent	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:25340941T>C	ENST00000330560.3	+	9	1536	c.1059T>C	c.(1057-1059)gaT>gaC	p.D353D	CDCA2_ENST00000380665.3_Silent_p.D338D|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	353					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTATGATGATGATGGGACTC	0.328000													22	16					0	0	0.002780	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321275	27321275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:27321275C>T	ENST00000407991.1	-	6	1293	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	CHRNA2_ENST00000240132.2_Missense_Mutation_p.G214S|CHRNA2_ENST00000520933.2_Missense_Mutation_p.G229S	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	229						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCCCACTCGCCGCTCTCCCAG	0.572000													6	45					0	0	0.001984	0	0
IL36RN	26525	broad.mit.edu	37	2	113820076	113820076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113820076G>A	ENST00000393200.2	+	5	451	c.290G>A	c.(289-291)aGc>aAc	p.S97N	IL36RN_ENST00000346807.3_Missense_Mutation_p.S97N	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	97						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCAAGAGCTTCACCTTC	0.627000													11	19					0	0	0.013537	0	0
RP1	6101	broad.mit.edu	37	8	55533884	55533884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:55533884G>A	ENST00000220676.1	+	2	506	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	120					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGGACAAAGCCCGTCGGCG	0.716000													19	48					0	0	0.012319	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989716	15989716	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:15989716C>T	ENST00000221700.5	-	13	1523	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	CYP4F2_ENST00000592328.1_Silent_p.A476A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTTCATCTCCGCCATCGCGA	0.672000													6	22					0	0	0.001984	0	0
SLC44A3	126969	broad.mit.edu	37	1	95310896	95310896	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:95310896C>T	ENST00000271227.6	+	9	1050	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SLC44A3_ENST00000446120.2_Silent_p.F280F|SLC44A3_ENST00000532427.1_Silent_p.F236F|SLC44A3_ENST00000529450.1_Silent_p.F284F|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000467909.1_Silent_p.F268F|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Silent_p.F248F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	316						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTGAGCTTTTCCAAATCACAA	0.438000													20	51					0	0	0.008871	0	0
KANSL1L	151050	broad.mit.edu	37	2	210888825	210888825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:210888825G>A	ENST00000281772.9	-	14	2928	c.2665C>T	c.(2665-2667)Ctt>Ttt	p.L889F	KANSL1L_ENST00000418791.1_Missense_Mutation_p.L847F	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	889																	TCTGAAGGAAGCCCAGGAGGA	0.398000													10	18					0	0	0.006214	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162129	1162129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:1162129C>T	ENST00000381894.3	-	2	805	c.134G>A	c.(133-135)aGa>aAa	p.R45K	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	45						integral to membrane	protein binding										GGGAGCTGATCTCCTTGGGGC	0.617000													13	25					0	0	0.002450	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283910	151283910	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:151283910C>T	ENST00000509345.2	-	0	426																											GCCTCCTGCTCCTCAGTAGTG	0.632000													17	24					0	0	0.004990	0	0
TRIM36	55521	broad.mit.edu	37	5	114462242	114462242	+	Silent	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:114462242T>C	ENST00000513154.1	-	10	2435	c.2109A>G	c.(2107-2109)gaA>gaG	p.E703E	TRIM36_ENST00000282369.3_Silent_p.E715E|TRIM36_ENST00000514154.1_Silent_p.E560E			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	715	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTGTGATGGGTTCTTCAAGCT	0.408000													5	25					0	0	0.001984	0	0
RAB27B	5874	broad.mit.edu	37	18	52551645	52551645	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:52551645C>T	ENST00000262094.5	+	4	842	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RAB27B_ENST00000586594.1_Intron	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AACAGAGCTTCTTAAATGTCA	0.468000													25	54					0	0	0.006320	0	0
NDST1	3340	broad.mit.edu	37	5	149931403	149931403	+	Missense_Mutation	SNP	G	G	A	rs150060318		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:149931403G>A	ENST00000261797.6	+	14	3017	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	NDST1_ENST00000523767.1_Missense_Mutation_p.E782K	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	839	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATATCCCGAGATGGACTT	0.498000													6	35					0	0	0.001168	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255601	77255601	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:77255601G>A	ENST00000251089.2	-	10	2095	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	ANGEL1_ENST00000557179.1_Silent_p.A226A	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	661										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCGAAGCTGGCTAGCAGGC	0.567000													34	56					0	0	0.004289	0	0
RIT1	6016	broad.mit.edu	37	1	155870364	155870364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:155870364G>A	ENST00000368323.3	-	6	679	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	RIT1_ENST00000539040.1_Missense_Mutation_p.P123S|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.P176S	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	159					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCAAAAAAGGGACAGCTGAAT	0.428000													12	79					0	0	0.013537	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995290	121995290	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:121995290G>A	ENST00000263707.5	-	10	1009	c.912C>T	c.(910-912)caC>caT	p.H304H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	304					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ATGGGAGCAGGTGCTGTGAGC	0.612000													8	23					0	0	0.006214	0	0
CECR2	27443	broad.mit.edu	37	22	18022561	18022561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr22:18022561C>T	ENST00000262608.8	+	15	2666	c.2666C>T	c.(2665-2667)cCc>cTc	p.P889L	CECR2_ENST00000400573.4_Missense_Mutation_p.P888L|CECR2_ENST00000400585.2_Missense_Mutation_p.P747L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	930					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTGCACACCCCCGTTTACCT	0.637000													34	37					0	0	0.007835	0	0
LRAT	9227	broad.mit.edu	37	4	155665867	155665867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:155665867C>T	ENST00000336356.3	+	2	642	c.389C>T	c.(388-390)tCc>tTc	p.S130F	LRAT_ENST00000507827.1_Missense_Mutation_p.S130F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	130					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTGGACGAGTCCCTCCAGAAA	0.582000													7	28					0	0	0.004482	0	0
AUTS2	26053	broad.mit.edu	37	7	70228046	70228046	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:70228046G>A	ENST00000342771.4	+	7	1254	c.933G>A	c.(931-933)acG>acA	p.T311T	AUTS2_ENST00000406775.2_Silent_p.T311T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	311										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCCGCAGACGGAGCCCCAAC	0.617000													10	30					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200041	155200041	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:155200041G>A	ENST00000460012.1	-	23	4041	c.3684C>T	c.(3682-3684)acC>acT	p.T1228T	PLCH1_ENST00000334686.6_Silent_p.T1228T|PLCH1_ENST00000414191.1_Silent_p.T1228T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.T1266T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1266					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGTTTGGTGGTCTCAGAAC	0.468000													10	80					0	0	0.008291	0	0
DAZL	1618	broad.mit.edu	37	3	16635245	16635245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:16635245C>T	ENST00000250863.8	-	9	999	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DAZL_ENST00000399444.2_Missense_Mutation_p.E218K	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	218					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATCAACTTCATTACAGTGG	0.343000													7	21					0	0	0.004482	0	0
SCN11A	11280	broad.mit.edu	37	3	38938387	38938387	+	Silent	SNP	T	T	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:38938387T>G	ENST00000302328.3	-	14	2550	c.2352A>C	c.(2350-2352)tcA>tcC	p.S784S	SCN11A_ENST00000444237.2_Silent_p.S784S|SCN11A_ENST00000450244.1_Silent_p.S784S|SCN11A_ENST00000456224.3_Silent_p.S784S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	784					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACACAATGATGATGATGCAT	0.398000													5	27					0	0	0.001984	0	0
RBPJL	11317	broad.mit.edu	37	20	43945438	43945438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:43945438C>T	ENST00000343694.3	+	12	1465	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	RBPJL_ENST00000372743.1_Missense_Mutation_p.L464F|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.A468V	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	465	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGCCGACGGGCTCTTCTACCC	0.706000													6	36					0	0	0.001168	0	0
KCNAB2	8514	broad.mit.edu	37	1	6155618	6155618	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:6155618G>A	ENST00000164247.1	+	13	1302	c.738G>A	c.(736-738)ctG>ctA	p.L246L	KCNAB2_ENST00000458166.2_Silent_p.L179L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Silent_p.L294L|KCNAB2_ENST00000378097.1_Silent_p.L246L|KCNAB2_ENST00000352527.1_Silent_p.L232L|KCNAB2_ENST00000341524.1_Silent_p.L246L|KCNAB2_ENST00000602612.1_Silent_p.L246L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Silent_p.L232L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	246						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCTCTGGCCTGTGGCA	0.647000													10	65					0	0	0.013537	0	0
FAT4	79633	broad.mit.edu	37	4	126369700	126369700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:126369700C>T	ENST00000394329.3	+	9	7542	c.7529C>T	c.(7528-7530)tCt>tTt	p.S2510F	FAT4_ENST00000335110.5_Missense_Mutation_p.S808F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2510	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTAGAAATTCTGAAAAATTT	0.418000													28	41					0	0	0.005443	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488708	37488708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:37488708G>A	ENST00000374660.1	+	36	3058	c.2959G>A	c.(2959-2961)Gat>Aat	p.D987N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D868N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D868N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1021						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATTCTTGGGATTCTGAGGT	0.299000													4	7					0	0	0.009096	0	0
KCTD7	154881	broad.mit.edu	37	7	66104188	66104188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:66104188C>T	ENST00000275532.3	+	4	1023	c.839C>T	c.(838-840)cCc>cTc	p.P280L	KCTD7_ENST00000443322.1_Missense_Mutation_p.P280L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	280						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCAAGCGCCCCATCTATGAG	0.587000													14	36					0	0	0.001855	0	0
PRB4	5545	broad.mit.edu	37	12	11461475	11461475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:11461475C>T	ENST00000279575.1	-	3	475	c.442G>A	c.(442-444)Gga>Aga	p.G148R	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G148R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTACCTCCTTGTGGGGGT	0.607000										HNSCC(22;0.051)			64	99					0	0	0.014410	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281648	100281648	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:100281648G>A	ENST00000275732.5	-	15	3072	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	621										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCACCTGGGGGGTTTGAGCG	0.652000													12	17					0	0	0.001855	0	0
DNAH10	196385	broad.mit.edu	37	12	124401149	124401149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:124401149G>A	ENST00000409039.3	+	62	10539	c.10514G>A	c.(10513-10515)gGa>gAa	p.G3505E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3505	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCTCCCAAGGACGGCAGTTT	0.438000													16	18					0	0	0.004007	0	0
SQRDL	58472	broad.mit.edu	37	15	45965929	45965929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:45965929C>T	ENST00000260324.7	+	5	970	c.584C>T	c.(583-585)cCa>cTa	p.P195L	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.P195L|SQRDL_ENST00000568606.1_Missense_Mutation_p.P195L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	195							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTCACCTTCCCAAATACTCCA	0.463000													5	34					0	0	0.000602	0	0
FMO3	2328	broad.mit.edu	37	1	171083326	171083326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:171083326C>T	ENST00000367755.4	+	7	1118	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	FMO3_ENST00000542847.1_Missense_Mutation_p.P316L|FMO3_ENST00000392085.2_Missense_Mutation_p.P336L|FMO3_ENST00000538429.1_Missense_Mutation_p.P273L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	336					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCTACCCCTTCCTTGAT	0.403000													32	34					0	0	0.003271	0	0
NAE1	8883	broad.mit.edu	37	16	66839687	66839687	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:66839687G>A	ENST00000379463.2	-	20	1662	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	NAE1_ENST00000290810.3_Silent_p.F496F|NAE1_ENST00000359087.4_Silent_p.F499F|NAE1_ENST00000394074.2_Silent_p.F407F	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	496					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CACCCCCCAAGAATGCAGCAA	0.398000													11	22					0	0	0.013537	0	0
CDH13	1012	broad.mit.edu	37	16	83712035	83712035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:83712035G>A	ENST00000566620.1	+	10	1797	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	CDH13_ENST00000428848.3_Missense_Mutation_p.D464N|CDH13_ENST00000268613.10_Missense_Mutation_p.D550N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	503	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAATGCCACGGACCCCGACTC	0.602000													6	10					0	0	0.001168	0	0
ERBB4	2066	broad.mit.edu	37	2	212587181	212587181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:212587181G>A	ENST00000342788.4	-	7	1130	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q274*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q274*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	274	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGCTCCAGTTGAAAGGTGGTT	0.388000										TSP Lung(8;0.080)			8	18					0	0	0.004482	0	0
TMEM119	338773	broad.mit.edu	37	12	108985650	108985650	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:108985650C>T	ENST00000392806.3	-	2	678	c.510G>A	c.(508-510)cgG>cgA	p.R170R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	170						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTGGAGCTGCCGGGAGGAAT	0.716000													8	39					0	0	0.006214	0	0
RLF	6018	broad.mit.edu	37	1	40703534	40703534	+	Missense_Mutation	SNP	C	C	T	rs142953276		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:40703534C>T	ENST00000372771.4	+	8	3187	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1054					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTCTAAAAGGCCCTGTACAGA	0.398000													9	39					0	0	0.008291	0	0
PTH2R	5746	broad.mit.edu	37	2	209302514	209302514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:209302514G>A	ENST00000272847.2	+	4	532	c.319G>A	c.(319-321)Gga>Aga	p.G107R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	107						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TAACCCCAATGGAACATGGGA	0.408000													5	27					0	0	0.000602	0	0
CLCA1	1179	broad.mit.edu	37	1	86961235	86961235	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:86961235A>G	ENST00000234701.3	+	13	2341	c.1990A>G	c.(1990-1992)Act>Gct	p.T664A	CLCA1_ENST00000394711.1_Missense_Mutation_p.T664A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	664					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTATTTCACAACTTATGACAC	0.448000													5	37					0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10920142	10920142	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:10920142T>C	ENST00000298232.7	-	18	1425	c.1058A>G	c.(1057-1059)gAa>gGa	p.E353G	TPTE_ENST00000361285.4_Missense_Mutation_p.E371G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E333G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	371	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTCGCCTTTCTCCAAAATA	0.373000													6	76					0	0	0.004482	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078276	6078276	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:6078276G>A	ENST00000199389.6	-	10	1292	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	EIF2AK1_ENST00000536084.1_Silent_p.I258I	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	382	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCTGCATCTGGATGTGCAGCA	0.512000													19	57					0	0	0.007413	0	0
DMBT1	1755	broad.mit.edu	37	10	124352087	124352087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:124352087G>A	ENST00000338354.3	+	20	2582	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	DMBT1_ENST00000344338.3_Missense_Mutation_p.E816K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E816K|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E826K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	826	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCATGAAGATGCTGG	0.537000													17	33					0	0	0.006122	0	0
MYO16	23026	broad.mit.edu	37	13	109793613	109793613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:109793613C>T	ENST00000356711.2	+	32	5113	c.4987C>T	c.(4987-4989)Ccc>Tcc	p.P1663S	MYO16_ENST00000357550.2_Missense_Mutation_p.P1663S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1663	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P1663T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTACAGCCCTCCCAGCTCCAG	0.667000													5	22					0	0	0.000602	0	0
ZNF562	54811	broad.mit.edu	37	19	9764378	9764378	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9764378G>A	ENST00000448622.1	-	6	690	c.528C>T	c.(526-528)tcC>tcT	p.S176S	ZNF562_ENST00000541032.1_Silent_p.S139S|ZNF562_ENST00000293648.4_Silent_p.S104S|ZNF562_ENST00000453372.2_Silent_p.S176S|ZNF562_ENST00000453792.2_Silent_p.S107S|ZNF562_ENST00000537617.1_Silent_p.S60S|ZNF562_ENST00000590155.1_Silent_p.S175S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GATTAAATTTGGAAAGTTCTT	0.413000													5	57					0	0	0.001168	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268534	16268534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16268534C>T	ENST00000375733.2	-	16	2601	c.2363G>A	c.(2362-2364)gGg>gAg	p.G788E	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G699E|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G781E			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	781	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTCAGCCCCGTCGCGAGG	0.657000													12	50					0	0	0.010729	0	0
SETBP1	26040	broad.mit.edu	37	18	42530081	42530081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:42530081C>T	ENST00000282030.5	+	4	1072	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	259						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)		CCCGTGGCTTCCTTTGCAAAG	0.537000									Schinzel-Giedion syndrome				14	51					0	0	0.003163	0	0
IL7	3574	broad.mit.edu	37	8	79710399	79710399	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:79710399G>A	ENST00000263851.4	-	2	655	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	IL7_ENST00000379113.2_Silent_p.L19L|IL7_ENST00000520269.1_Silent_p.L19L	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	19					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ACTGGCAACAGAACAAGGATC	0.343000													10	31					0	0	0.006214	0	0
SPATA16	83893	broad.mit.edu	37	3	172631500	172631500	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:172631500A>C	ENST00000351008.3	-	10	1721	c.1538T>G	c.(1537-1539)cTt>cGt	p.L513R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	513					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTTCCTTCAAGGGTGTCCAT	0.363000													6	33					0	0	0.003080	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366725	60366725	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:60366725C>T	ENST00000371204.3	-	8	1285	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	414					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)					GGGTGGCCCACTCTGTGGGGT	0.493000													20	43					0	0	0.012319	0	0
LINC00886	730091	broad.mit.edu	37	3	156527901	156527901	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:156527901G>A	ENST00000472943.1	-	0	148					NR_038387.1																						TCTTCTGCTGGTCTGTGGGAT	0.458000													4	29					0	0	0.000602	0	0
WFDC8	90199	broad.mit.edu	37	20	44207873	44207873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:44207873C>T	ENST00000357199.4	-	1	92	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	WFDC8_ENST00000289953.2_Missense_Mutation_p.R5Q	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	5						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCTTCAGTTCGGACAGTCCA	0.562000													40	63					0	0	0.014410	0	0
TMC7	79905	broad.mit.edu	37	16	19058495	19058495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:19058495G>A	ENST00000421369.3	+	12	1892	c.1334G>A	c.(1333-1335)tGg>tAg	p.W445*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.W555*|TMC7_ENST00000304381.5_Nonsense_Mutation_p.W555*	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	555						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCATCTGCTGGATCGGAGCC	0.507000													76	184					0	0	0.014410	0	0
ZNF136	7695	broad.mit.edu	37	19	12298662	12298662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:12298662C>T	ENST00000343979.4	+	4	1609	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	ZNF136_ENST00000398616.2_Missense_Mutation_p.S424F	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	490					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCTTCTAGTTCCTTTCGACTA	0.428000													14	32					0	0	0.002450	0	0
COL20A1	57642	broad.mit.edu	37	20	61947958	61947958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:61947958C>T	ENST00000422202.1	+	20	2667	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	COL20A1_ENST00000326996.6_Missense_Mutation_p.R860W|COL20A1_ENST00000358894.6_Missense_Mutation_p.R860W|COL20A1_ENST00000435874.1_Missense_Mutation_p.R867W			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	860	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCGTCCATCCGGGGCGTGGC	0.637000													3	0					0	0	0.009096	0	0
ZNF812	729648	broad.mit.edu	37	19	9801452	9801452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9801452G>A	ENST00000457674.2	-	5	1245	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCTTTATGAATTTTCACA	0.333000													8	23					0	0	0.006214	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100441	220100441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:220100441G>A	ENST00000366926.3	-	2	808	c.647C>T	c.(646-648)tCc>tTc	p.S216F	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	216					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GGTGTTGAAGGAATCACCTGC	0.333000													9	37					0	0	0.006214	0	0
TPTE	7179	broad.mit.edu	37	21	10910313	10910313	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:10910313G>A	ENST00000298232.7	-	21	1756	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	TPTE_ENST00000361285.4_Silent_p.F481F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.F443F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	481	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCACCGAATAGAAAAACTGCA	0.368000													11	103					0	0	0.003163	0	0
DFNA5	1687	broad.mit.edu	37	7	24789247	24789247	+	Silent	SNP	G	G	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:24789247G>T	ENST00000342947.3	-	2	572	c.147C>A	c.(145-147)ccC>ccA	p.P49P	DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.P49P	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	49					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTGGTACTTGGGTCTCTGCC	0.418000													7	167					0.00198382	0.00414757	0.001984	1	0
CIR1	9541	broad.mit.edu	37	2	175260318	175260318	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:175260318C>T	ENST00000342016.3	-	1	125	c.33G>A	c.(31-33)aaG>aaA	p.K11K	CIR1_ENST00000362053.5_Silent_p.K11K	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	11	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GAAAGTCTTTCTTGCACATGA	0.502000													23	108					0	0	0.006320	0	0
USH2A	7399	broad.mit.edu	37	1	215972273	215972273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:215972273C>T	ENST00000366943.2	-	50	10320	c.9934G>A	c.(9934-9936)Gga>Aga	p.G3312R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3312R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3312					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)		TACACCACTCCTTCTTCTCCA	0.502000										HNSCC(13;0.011)			24	37					0	0	0.003954	0	0
SUN1	23353	broad.mit.edu	37	7	882989	882989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:882989G>A	ENST00000456758.2	+	8	664	c.664G>A	c.(664-666)Gct>Act	p.A222T	SUN1_ENST00000403868.1_Missense_Mutation_p.A164T|SUN1_ENST00000389574.3_Missense_Mutation_p.A114T|SUN1_ENST00000401592.1_Missense_Mutation_p.A164T|SUN1_ENST00000405266.1_Missense_Mutation_p.A164T|SUN1_ENST00000457378.2_Missense_Mutation_p.A185T|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Missense_Mutation_p.A114T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	164	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGAAATAAAGCTGCCATTCA	0.473000													32	71					0	0	0.012213	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158323823G>A	ENST00000444681.2	+	1	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_ENST00000368156.1_Silent_p.G15G|CD1E_ENST00000368163.3_Silent_p.G15G|CD1E_ENST00000368154.1_Silent_p.G15G|CD1E_ENST00000368155.3_Silent_p.G15G|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000452291.2_Silent_p.G15G|CD1E_ENST00000368160.3_Silent_p.G15G|CD1E_ENST00000368165.3_Silent_p.G15G|CD1E_ENST00000368167.3_Silent_p.G15G|CD1E_ENST00000368161.3_Silent_p.G15G|CD1E_ENST00000368157.1_Silent_p.G15G|CD1E_ENST00000368164.3_Silent_p.G15G|CD1E_ENST00000368166.3_Silent_p.G15G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	15			G -> E (in dbSNP:rs3180089).		antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTGGGGAAAATACAG	0.542000													11	26					0	0	0.002450	0	0
ADC	113451	broad.mit.edu	37	1	33583706	33583706	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:33583706C>T	ENST00000294517.6	+	11	1820	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.S431S|ADC_ENST00000398167.1_Silent_p.S431S|ADC_ENST00000373443.3_Silent_p.S411S	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	411					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ATGCCATGTCCCGGGTGGCCT	0.572000													12	21					0	0	0.013537	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:151303172C>T	ENST00000370323.4	-	4	1237	c.921G>A	c.(919-921)agG>agA	p.R307R	MAGEA10_ENST00000244096.3_Silent_p.R307R|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000													40	59					0	0	0.007835	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904810	73904810	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:73904810G>A	ENST00000342056.2	+	15	2927	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	KCNQ5_ENST00000414165.2_Silent_p.K714K|KCNQ5_ENST00000403813.2_Silent_p.K815K|KCNQ5_ENST00000402622.2_Silent_p.K834K|KCNQ5_ENST00000370398.1_Silent_p.K824K|KCNQ5_ENST00000355635.3_Silent_p.K825K|KCNQ5_ENST00000355194.4_Silent_p.K824K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	824					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTGCCGAAGGACTTGGGCA	0.493000													22	29					0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9056855	9056855	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9056855C>T	ENST00000397910.4	-	3	30794	c.30591G>A	c.(30589-30591)caG>caA	p.Q10197Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10199	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q10197H(1)|p.Q5830H(1)		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						TCTTGGAACTCTGTAAAAGGT	0.463000													15	36					0	0	0.006122	0	0
ATP1A2	477	broad.mit.edu	37	1	160098511	160098511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:160098511G>A	ENST00000361216.3	+	9	1176	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E363K|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	363					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGAGGCGGTGGAGACGCTGGG	0.577000													6	49					0	0	0.001168	0	0
PNCK	139728	broad.mit.edu	37	X	152939616	152939616	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:152939616G>A	ENST00000447676.2	-	1	200	c.15C>T	c.(13-15)ttC>ttT	p.F5F	PNCK_ENST00000393831.2_5'UTR|PNCK_ENST00000370142.1_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	0						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTGCCCGAAAGCAGCCT	0.667000													4	29					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9067222	9067222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9067222G>A	ENST00000397910.4	-	3	20427	c.20224C>T	c.(20224-20226)Cct>Tct	p.P6742S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6744	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						GAGCCAAGAGGAGGACCTGTT	0.502000													26	144					0	0	0.006320	0	0
CSNK2B	1460	broad.mit.edu	37	6	31636405	31636405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:31636405C>T	ENST00000375880.2	+	4	383	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	CSNK2B_ENST00000375866.2_Missense_Mutation_p.L89F|CSNK2B_ENST00000375865.2_Missense_Mutation_p.L89F|CSNK2B_ENST00000375882.2_Missense_Mutation_p.L89F|CSNK2B_ENST00000375885.4_Missense_Mutation_p.L108F																							CCGCTACATCCTTACCAACCG	0.532000													46	158					0	0	0.014410	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995289	121995289	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:121995289G>A	ENST00000263707.5	-	10	1010	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	305					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L305M(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GATGGGAGCAGGTGCTGTGAG	0.607000													8	23					0	0	0.006214	0	0
NXN	64359	broad.mit.edu	37	17	704267	704267	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:704267C>T	ENST00000336868.3	-	8	1321	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	NXN_ENST00000575801.1_Silent_p.V302V|NXN_ENST00000538650.1_Silent_p.V101V|NXN_ENST00000537628.2_Silent_p.V161V	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	410					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TGATCTCCTCCACGTCCATCA	0.592000													20	13					0	0	0.007413	0	0
OR9A4	130075	broad.mit.edu	37	7	141619403	141619403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:141619403C>T	ENST00000548136.1	+	1	787	c.728C>T	c.(727-729)tCc>tTc	p.S243F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACTTGTGCCTCCCACTTCACC	0.502000													20	59					0	0	0.012319	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450353	105450353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:105450353C>T	ENST00000337685.2	+	5	1713	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MUM1L1_ENST00000372552.1_Missense_Mutation_p.P310S|MUM1L1_ENST00000357175.2_Missense_Mutation_p.P310S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	310										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAGCATGCCCTGGGAGTTG	0.458000													7	6					0	0	0.003080	0	0
EPHA2	1969	broad.mit.edu	37	1	16456733	16456733	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16456733T>C	ENST00000358432.5	-	15	2811	c.2657A>G	c.(2656-2658)gAc>gGc	p.D886G		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	886	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGGGTCAAAGTCAGCCAGGGT	0.582000													12	27					0	0	0.010729	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804443	45804443	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:45804443C>T	ENST00000358525.4	-	9	1540	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Silent_p.V438V|SLC6A20_ENST00000456124.2_Silent_p.V475V	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	475					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAATCGTCTCCACCAGCACGA	0.582000													14	58					0	0	0.003163	0	0
KCTD16	57528	broad.mit.edu	37	5	143853596	143853596	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:143853596C>T	ENST00000507359.2	+	3	2297	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	KCTD16_ENST00000512467.1_Silent_p.F402F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	402						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGGATTTCCTAAAAATCA	0.428000													7	57					0	0	0.003080	0	0
MCTP1	79772	broad.mit.edu	37	5	94275821	94275821	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:94275821G>A	ENST00000515393.1	-	5	1139	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	MCTP1_ENST00000312216.8_Silent_p.I159I|MCTP1_ENST00000505208.1_Silent_p.I159I|MCTP1_ENST00000429576.2_Silent_p.I159I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	380					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAGGGGTAAGGATGACTGAGA	0.448000													12	109					0	0	0.003163	0	0
DGKQ	1609	broad.mit.edu	37	4	959282	959282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:959282G>A	ENST00000273814.3	-	14	1688	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	539					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCTCACCTTGGGAGGAGTAG	0.647000													9	10					0	0	0.008291	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679199	37679199	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:37679199C>T	ENST00000379800.3	-	1	604	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	65	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T65T(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTGAAGAATCGTGTAGAGTT	0.532000													16	65					0	0	0.006122	0	0
TBC1D1	23216	broad.mit.edu	37	4	38055922	38055922	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:38055922C>T	ENST00000261439.4	+	12	2368	c.2013C>T	c.(2011-2013)acC>acT	p.T671T	TBC1D1_ENST00000508802.1_Silent_p.T765T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	671						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGTAGCCACCCCGCAGAAGG	0.542000													31	84					0	0	0.003271	0	0
FAM170A	340069	broad.mit.edu	37	5	118969690	118969690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:118969690C>T	ENST00000515256.1	+	3	419	c.247C>T	c.(247-249)Caa>Taa	p.Q83*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	83						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCCCCAGCCTCAATCACCCCT	0.522000													12	21					0	0	0.010729	0	0
MIR520F	574464	broad.mit.edu	37	19	54185498	54185498	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:54185498G>A	ENST00000384824.1	+	0	86					NR_030186.1																						TACCGTTTGGGAAAAGCAATG	0.443000													12	22					0	0	0.013537	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215556	21215556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:21215556C>T	ENST00000342679.4	+	10	1126	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R264C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R264C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	293	Protein kinase.		R -> H (in dbSNP:rs35206134).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCAGCCGACCGTTTCTCCCC	0.647000													6	15					0	0	0.001168	0	0
CPED1	79974	broad.mit.edu	37	7	120907270	120907270	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:120907270G>A	ENST00000310396.5	+	21	3102	c.2633_splice	c.e21-1	p.E879_splice		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTCATTCAGGGAAAATTTACT	0.303000													8	33					0	0	0.004482	0	0
MMP25	64386	broad.mit.edu	37	16	3100339	3100339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:3100339G>A	ENST00000336577.4	+	4	690	c.453G>A	c.(451-453)atG>atA	p.M151I	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	151					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCTGGGGCATGGAGTCAGGCC	0.637000													17	28					0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108488640	108488640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:108488640C>T	ENST00000408999.3	+	20	4257	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1394C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1394	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGCAAGTTCGTATAGTGAT	0.358000													33	141					0	0	0.006999	0	0
CCDC97	90324	broad.mit.edu	37	19	41825596	41825596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:41825596C>T	ENST00000269967.3	+	3	742	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	207										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCACCAGCCCCCCAAGCCC	0.652000													7	38					0	0	0.003080	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21142942	21142942	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:21142942G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TCCCCGTTACGGGAAAGATTA	0.428000													22	76					0	0	0.004656	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448179	136448179	+	Missense_Mutation	SNP	G	G	A	rs148446530		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:136448179G>A	ENST00000394945.1	-	5	588	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SPOCK1_ENST00000282223.7_Missense_Mutation_p.P140L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	140	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTGCCACGGGACAGGGCTT	0.463000													8	31					0	0	0.004482	0	0
GLYR1	84656	broad.mit.edu	37	16	4862212	4862212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:4862212G>A	ENST00000321919.9	-	13	1233	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	GLYR1_ENST00000381983.3_Missense_Mutation_p.P369L|GLYR1_ENST00000436648.5_Missense_Mutation_p.P305L|GLYR1_ENST00000591451.1_Missense_Mutation_p.P380L	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	386					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCCTGAGACGGGGGCTTCCAG	0.592000													7	13					0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997268	146997268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:146997268C>T	ENST00000361727.3	+	9	1900	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	462	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCACGAGGTTCGCTTCCTAGC	0.403000										HNSCC(39;0.1)			27	55					0	0	0.010818	0	0
LRRC43	254050	broad.mit.edu	37	12	122685332	122685332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:122685332G>A	ENST00000339777.4	+	10	1688	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E369K|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	554										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCGCCCAAGGAGCTCCGGCA	0.672000													7	53					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37027900	37027900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:37027900C>T	ENST00000358047.3	+	1	1469	c.1417C>T	c.(1417-1419)Cat>Tat	p.H473Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	473										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGTGTCCCATCTCTGCCC	0.637000													13	15					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179577224	179577224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179577224G>A	ENST00000589042.1	-	95	27649	c.27425C>T	c.(27424-27426)tCg>tTg	p.S9142L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7898L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8825L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8825	Ig-like 74.						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)			CCAGGTAACCGAAATGGGAGG	0.423000													4	12					0	0	0.009096	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839752	109839752	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:109839752G>T	ENST00000357155.1	-	4	539	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	164	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTCCATTCCAGTGTAGCGCTG	0.577000													35	217					2.87052e-16	6.07023e-16	0.005524	1	0
MMP16	4325	broad.mit.edu	37	8	89128865	89128865	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:89128865C>T	ENST00000286614.6	-	6	1235	c.954G>A	c.(952-954)agG>agA	p.R318R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	318					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCATTTTTCCTTGGGTCAG	0.527000													37	101					0	0	0.006230	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799340	140799340	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140799340C>T	ENST00000398594.2	+	1	1914	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCGGTCCGCCAGCGCC	0.632000													14	24					0	0	0.004990	0	0
FGB	2244	broad.mit.edu	37	4	155487751	155487751	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:155487751G>A	ENST00000302068.4	+	3	480	c.417G>A	c.(415-417)caG>caA	p.Q139Q	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	139				SQ -> QS (in Ref. 11; AA sequence and 12; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTTCCCAGACCTCCTCTT	0.423000													15	57					0	0	0.003163	0	0
AQP1	358	broad.mit.edu	37	7	30951842	30951842	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:30951842C>T	ENST00000311813.4	+	1	373	c.318C>T	c.(316-318)atC>atT	p.I106I	AQP1_ENST00000509504.1_Silent_p.I283I|AQP1_ENST00000434909.2_Silent_p.I166I	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TGGGGGCCATCGTCGCCACCG	0.642000													30	75					0	0	0.003271	0	0
NPY5R	4889	broad.mit.edu	37	4	164271499	164271499	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:164271499C>G	ENST00000515560.1	+	4	1596	c.74C>G	c.(73-75)tCt>tGt	p.S25C	NPY5R_ENST00000338566.3_Missense_Mutation_p.S25C|NPY5R_ENST00000506953.1_Missense_Mutation_p.S25C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	25					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACTCGGAATTCTGATTTCCCA	0.388000													13	45					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179642222	179642222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179642222C>T	ENST00000589042.1	-	26	4794	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N	TTN_ENST00000342175.6_Missense_Mutation_p.D1478N|TTN_ENST00000359218.5_Missense_Mutation_p.D1478N|TTN_ENST00000460472.2_Missense_Mutation_p.D1478N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D1524N|TTN_ENST00000591111.1_Missense_Mutation_p.D1524N|TTN_ENST00000360870.5_Missense_Mutation_p.D1524N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1524	Ig-like 6.						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)			TCCCCAGAATCACTGGGTGTG	0.378000													5	13					0	0	0.000602	0	0
LY6H	4062	broad.mit.edu	37	8	144239719	144239719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:144239719G>A	ENST00000414417.2	-	5	667	c.434C>T	c.(433-435)gCc>gTc	p.A145V	LY6H_ENST00000342752.4_Missense_Mutation_p.A145V|LY6H_ENST00000430474.2_Missense_Mutation_p.A124V	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	124					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGCCCCCCGGCCAGGGCCCA	0.652000													12	20					0	0	0.013537	0	0
KIAA0232	9778	broad.mit.edu	37	4	6860184	6860184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:6860184C>T	ENST00000307659.5	+	6	924	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P157S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	157							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAGGGGTCTCCCTCTCCAGA	0.328000													7	21					0	0	0.003080	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367788	99367788	+	Missense_Mutation	SNP	C	C	T	rs72552799		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:99367788C>T	ENST00000336411.2	-	5	572	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	130			R -> Q (in allele CYP3A4*8).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAGCAATGATCGTAATCTCTT	0.388000													7	52					0	0	0.004482	0	0
UTP14C	9724	broad.mit.edu	37	13	52604413	52604413	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:52604413C>T	ENST00000521776.2	+	2	2206	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	491					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAACCTGCCCCAGAAGAAG	0.468000													28	106					0	0	0.007291	0	0
PTPN9	5780	broad.mit.edu	37	15	75798234	75798234	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:75798234G>A	ENST00000306726.2	-	7	1262	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	250						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGGTAGGAACTGGAAAT	0.537000													8	29					0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75037958	75037958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:75037958C>T	ENST00000326665.5	-	14	3654	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1146	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGTGAATCTTCTCCTAGAAGC	0.468000													17	38					0	0	0.004990	0	0
C1orf168	199920	broad.mit.edu	37	1	57258455	57258455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:57258455C>T	ENST00000343433.6	-	2	111	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	11										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						GCTCGAAGTTCCTTGAAGTTT	0.378000													37	94					0	0	0.005524	0	0
ZNF185	7739	broad.mit.edu	37	X	152100264	152100264	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:152100264C>T	ENST00000535861.1	+	13	1011	c.963C>T	c.(961-963)ctC>ctT	p.L321L	ZNF185_ENST00000370268.4_Silent_p.L321L|ZNF185_ENST00000449285.2_Silent_p.L322L|ZNF185_ENST00000318504.7_Silent_p.L262L|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000539731.1_Silent_p.L292L|ZNF185_ENST00000370270.1_Intron|ZNF185_ENST00000318529.8_Silent_p.L100L	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	321						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAGAGCTCCAGAGGGACT	0.547000													7	12					0	0	0.001984	0	0
TRPC6	7225	broad.mit.edu	37	11	101342876	101342876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:101342876C>T	ENST00000344327.3	-	8	2621	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E617K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E655K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E678K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	733					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E733K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTCAATTTCCTGGAATGAA	0.343000													31	38					0	0	0.013726	0	0
PCDH15	65217	broad.mit.edu	37	10	55566538	55566538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:55566538G>A	ENST00000373965.2	-	36	5250	c.4856C>T	c.(4855-4857)cCt>cTt	p.P1619L	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1616L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACAGGGCAAGGGGCAAATGT	0.453000										HNSCC(58;0.16)			62	83					0	0	0.014410	0	0
BAI3	577	broad.mit.edu	37	6	69653823	69653823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:69653823G>A	ENST00000370598.1	+	6	1953	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	378	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G378*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCTCAGTATGGAGGAAGGCC	0.453000													42	32					0	0	0.010771	0	0
OTOGL	283310	broad.mit.edu	37	12	80771790	80771790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:80771790C>T	ENST00000458043.2	+	58	7003	c.6997C>T	c.(6997-6999)Ctc>Ttc	p.L2333F	OTOGL_ENST00000546620.1_Missense_Mutation_p.L352F|OTOGL_ENST00000547103.1_Missense_Mutation_p.L2321F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATGTACACTCTCCAGGAACC	0.413000													5	6					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126412372	126412372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:126412372C>T	ENST00000394329.3	+	17	14408	c.14395C>T	c.(14395-14397)Cgc>Tgc	p.R4799C	FAT4_ENST00000335110.5_Missense_Mutation_p.R3040C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4799					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACACACCTCGCCCTAGAAA	0.532000													15	57					0	0	0.004007	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573103	140573103	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140573103C>T	ENST00000239446.4	+	1	1162	c.978C>T	c.(976-978)ggC>ggT	p.G326G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTGGAGGCCTTTCTGCAA	0.378000													15	52					0	0	0.003163	0	0
CACNA1C	775	broad.mit.edu	37	12	2721143	2721143	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:2721143G>A	ENST00000399655.1	+	29	4057	c.3792G>A	c.(3790-3792)gtG>gtA	p.V1264V	CACNA1C_ENST00000399601.1_Silent_p.V1264V|CACNA1C_ENST00000344100.3_Silent_p.V1264V|CACNA1C_ENST00000480911.1_Silent_p.V1264V|CACNA1C_ENST00000399617.1_Silent_p.V1264V|CACNA1C_ENST00000402845.3_Silent_p.V1264V|CACNA1C_ENST00000399603.1_Silent_p.V1264V|CACNA1C_ENST00000399591.1_Silent_p.V1264V|CACNA1C_ENST00000399634.1_Silent_p.V1264V|CACNA1C_ENST00000399637.1_Silent_p.V1264V|CACNA1C_ENST00000399649.1_Silent_p.V1264V|CACNA1C_ENST00000406454.3_Silent_p.V1264V|CACNA1C_ENST00000399629.1_Silent_p.V1264V|CACNA1C_ENST00000399638.1_Silent_p.V1264V|CACNA1C_ENST00000399644.1_Silent_p.V1264V|CACNA1C_ENST00000399597.1_Silent_p.V1264V|CACNA1C_ENST00000399621.1_Silent_p.V1264V|CACNA1C_ENST00000327702.7_Silent_p.V1264V|CACNA1C_ENST00000335762.5_Silent_p.V1289V|CACNA1C_ENST00000399595.1_Silent_p.V1264V|CACNA1C_ENST00000399641.1_Silent_p.V1264V|CACNA1C_ENST00000399606.1_Silent_p.V1284V|CACNA1C_ENST00000347598.4_Silent_p.V1284V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1284					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTTCACCGTGGAGATGATCC	0.552000													5	18					0	0	0.001984	0	0
CSMD1	64478	broad.mit.edu	37	8	3565960	3565960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:3565960C>T	ENST00000520002.1	-	7	1540	c.985G>A	c.(985-987)Gat>Aat	p.D329N	CSMD1_ENST00000602557.1_Missense_Mutation_p.D329N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D329N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D329N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D329N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D329N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D329N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	329						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)		TGGCTTCCATCCTTGCTGGGC	0.453000													11	40					0	0	0.013537	0	0
CLRN1	7401	broad.mit.edu	37	3	150645783	150645783	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:150645783G>A	ENST00000327047.1	-	3	929	c.639C>T	c.(637-639)ttC>ttT	p.F213F	RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Intron|CLRN1_ENST00000328863.4_Silent_p.F226F	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	213					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGCAAAAGGGAACTGAAATC	0.368000													11	51					0	0	0.008291	0	0
APOF	319	broad.mit.edu	37	12	56755494	56755494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:56755494G>A	ENST00000398189.3	-	2	573	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	APOF_ENST00000541105.1_Missense_Mutation_p.L148F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	166					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TCTGTCGGGAGGGAGCGCCCG	0.582000													3	5					0	0	0.004672	0	0
ITGA4	3676	broad.mit.edu	37	2	182396441	182396441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:182396441G>A	ENST00000397033.2	+	25	3152	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	908					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGAAAATGGAAAGTGGAAA	0.348000													8	61					0	0	0.004482	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671662	31671662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:31671662C>T	ENST00000375483.3	+	3	659	c.659C>T	c.(658-660)aCt>aTt	p.T220I		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	220	Gly-rich.					cytoplasm|extracellular region	lipid binding										ATCCTCAGCACTGTGCAAGGC	0.637000													14	34					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237789083	237789083	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:237789083G>C	ENST00000366574.2	+	40	6462	c.6145G>C	c.(6145-6147)Gag>Cag	p.E2049Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E2047Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E2033Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2049	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAACCAGTTGAGAGTGACTC	0.433000													13	14					0	0	0.013537	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								23	26					0	0	0.003954	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:43032468C>T	ENST00000399770.2	+	4	784	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R262*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000													42	81					0	0	0.014410	0	0
GPR63	81491	broad.mit.edu	37	6	97246563	97246563	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:97246563A>T	ENST00000229955.3	-	2	1390	c.1045T>A	c.(1045-1047)Ttt>Att	p.F349I	GPR63_ENST00000417980.1_Missense_Mutation_p.F349I	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	349						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ATCTCAAAAAAGTTGTGCTGA	0.433000													20	28					0	0	0.007413	0	0
PTPRT	11122	broad.mit.edu	37	20	41076885	41076885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:41076885G>A	ENST00000373198.3	-	9	1770	c.1535C>T	c.(1534-1536)aCc>aTc	p.T512I	PTPRT_ENST00000373201.1_Missense_Mutation_p.T512I|PTPRT_ENST00000373187.1_Missense_Mutation_p.T512I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T512I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T512I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T512I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T512I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	512	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACCCCATTGGTCTCATTGGG	0.493000													20	128					0	0	0.014323	0	0
TCN1	6947	broad.mit.edu	37	11	59620483	59620483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:59620483C>T	ENST00000257264.3	-	9	1371	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	423					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTTTTCTCCATTGCGGACA	0.413000													36	56					0	0	0.004289	0	0
SERINC3	10955	broad.mit.edu	37	20	43139985	43139985	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:43139985G>A	ENST00000342374.4	-	4	577	c.420C>T	c.(418-420)gcC>gcT	p.A140A	SERINC3_ENST00000541235.1_Silent_p.A85A|SERINC3_ENST00000255175.1_Silent_p.A140A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	140						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTCCAATAAGGGCAGCAATTT	0.353000													8	32					0	0	0.006214	0	0
NFIX	4784	broad.mit.edu	37	19	13184817	13184817	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:13184817C>T	ENST00000358552.3	+	4	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S	NFIX_ENST00000397661.2_Silent_p.S265S|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000592199.1_Silent_p.S265S|NFIX_ENST00000585575.1_Silent_p.S257S|NFIX_ENST00000588228.1_Silent_p.S218S|NFIX_ENST00000587260.1_Silent_p.S264S|NFIX_ENST00000360105.4_Silent_p.S268S|NFIX_ENST00000587760.1_Silent_p.S257S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	265					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCGGCGGTCCATCACCTCCC	0.627000													22	54					0	0	0.003330	0	0
UPF2	26019	broad.mit.edu	37	10	12043749	12043749	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:12043749A>C	ENST00000356352.2	-	5	2053	c.1580T>G	c.(1579-1581)aTt>aGt	p.I527S	UPF2_ENST00000357604.5_Missense_Mutation_p.I527S|UPF2_ENST00000397053.2_Missense_Mutation_p.I527S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	527					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTCATCATTAATTTCTAGATT	0.353000													66	248					0	0	0.014410	0	0
HERC5	51191	broad.mit.edu	37	4	89384699	89384699	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:89384699C>T	ENST00000264350.3	+	5	858	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	235					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATGATCCATCCCTTATTGAAG	0.438000													9	63					0	0	0.008291	0	0
C6orf10	10665	broad.mit.edu	37	6	32261093	32261093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:32261093C>T	ENST00000375015.4	-	26	1554	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	C6orf10_ENST00000533191.1_Missense_Mutation_p.G451R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G451R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G444R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G437R|C6orf10_ENST00000447241.2_Missense_Mutation_p.G453R			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	453						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GATTCTGGTCCTTTCAGTACA	0.463000													44	200					0	0	0.013114	0	0
KPTN	11133	broad.mit.edu	37	19	47986621	47986621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:47986621C>T	ENST00000338134.3	-	3	432	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	109					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AAGGGGCTGCCCTTGTCCCCT	0.622000											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	52					0	0	0.003080	0	0
CHIA	27159	broad.mit.edu	37	1	111857977	111857977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:111857977G>A	ENST00000369740.1	+	6	503	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.G134R|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_Missense_Mutation_p.G26R	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	134					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGAGTTTGACGGGCTGGACTT	0.547000													24	34					0	0	0.004656	0	0
CD69	969	broad.mit.edu	37	12	9907752	9907752	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9907752A>G	ENST00000228434.3	-	3	373	c.293T>C	c.(292-294)tTt>tCt	p.F98S	CD69_ENST00000536709.1_Missense_Mutation_p.F98S	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	98	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						AGTAGAAATAAAGTAGCATTT	0.438000													38	51					0	0	0.004878	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382810	56382810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:56382810G>A	ENST00000355701.3	-	29	6241	c.5371C>T	c.(5371-5373)Ccc>Tcc	p.P1791S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1731S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1791S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1791	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCGGAAGGGCAGCTCTGCC	0.577000													33	28					0	0	0.003755	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158576414C>T	ENST00000361284.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000													22	146					0	0	0.003330	0	0
ZNF385B	151126	broad.mit.edu	37	2	180409647	180409647	+	Silent	SNP	G	G	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:180409647G>T	ENST00000410066.1	-	4	906	c.303C>A	c.(301-303)acC>acA	p.T101T	ZNF385B_ENST00000336917.5_5'UTR|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.T25T|ZNF385B_ENST00000409692.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	101						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCATCATCAGGGTAGGTGTGC	0.433000													21	68					1.00905e-13	2.12893e-13	0.008871	1	0
MUC16	94025	broad.mit.edu	37	19	9048855	9048855	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9048855C>G	ENST00000397910.4	-	5	32979	c.32776G>C	c.(32776-32778)Gtt>Ctt	p.V10926L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10928	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						CCAGGTGAAACAGTTGGAGTT	0.478000													7	62					0	0	0.003080	0	0
UNC45B	146862	broad.mit.edu	37	17	33507649	33507649	+	Missense_Mutation	SNP	G	G	A	rs34242925	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:33507649G>A	ENST00000268876.5	+	18	2430	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC45B_ENST00000433649.1_Missense_Mutation_p.R776Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.R776Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.R697Q|UNC45B_ENST00000591048.1_Missense_Mutation_p.R697Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	778					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATCAGCTGCGGCAGGCGGCC	0.572000													6	44					0	0	0.001168	0	0
PARM1	25849	broad.mit.edu	37	4	75937662	75937662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:75937662C>T	ENST00000307428.7	+	2	283	c.71C>T	c.(70-72)tCa>tTa	p.S24L	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	24					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTGCCTACATCAGCTCCTTTG	0.463000													24	26					0	0	0.005443	0	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:247836167G>A	ENST00000359688.2	-	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418000													4	23					0	0	0.009096	0	0
ZNF560	147741	broad.mit.edu	37	19	9578502	9578502	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9578502T>C	ENST00000301480.4	-	10	1334	c.1121A>G	c.(1120-1122)aAa>aGa	p.K374R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTATAAGGTTTTATCCCAAT	0.403000													14	46					0	0	0.004990	0	0
UBR4	23352	broad.mit.edu	37	1	19437238	19437238	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:19437238G>A	ENST00000375267.2	-	79	11893	c.11890C>T	c.(11890-11892)Ctg>Ttg	p.L3964L	UBR4_ENST00000375254.3_Silent_p.L3964L|UBR4_ENST00000375217.2_Silent_p.L3957L|UBR4_ENST00000375226.2_Silent_p.L3940L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3964					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGGCTCACCAGATCGGGGTTG	0.587000													13	77					0	0	0.004007	0	0
UTP14C	9724	broad.mit.edu	37	13	52604412	52604412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:52604412C>T	ENST00000521776.2	+	2	2205	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	491					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGAACCTGCCCCAGAAGAA	0.463000													28	104					0	0	0.007291	0	0
GPR98	84059	broad.mit.edu	37	5	89990343	89990343	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:89990343C>T	ENST00000405460.2	+	33	7866	c.7770C>T	c.(7768-7770)tcC>tcT	p.S2590S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2590					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATACTTCCGAAGATGGCT	0.453000													16	160					0	0	0.004007	0	0
FSTL5	56884	broad.mit.edu	37	4	162508617	162508617	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:162508617G>A	ENST00000306100.5	-	8	1441	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Silent_p.F334F|FSTL5_ENST00000536695.1_Silent_p.F334F|FSTL5_ENST00000379164.4_Silent_p.F334F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	335	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCACTTGGAAGATGTGAG	0.373000													25	35					0	0	0.006320	0	0
TENM2	57451	broad.mit.edu	37	5	167631411	167631411	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:167631411C>T	ENST00000519204.1	+	18	3364	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F	TENM2_ENST00000520394.1_Silent_p.F971F|TENM2_ENST00000403607.2_Silent_p.F1027F|TENM2_ENST00000518659.1_Silent_p.F1203F|TENM2_ENST00000545108.1_Silent_p.F1203F					teneurin transmembrane protein 2																		AAAACCAGTTCCTGACCCAGC	0.572000													7	8					0	0	0.001984	0	0
C5AR2	27202	broad.mit.edu	37	19	47844445	47844445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:47844445C>T	ENST00000595464.1	+	2	607	c.389C>T	c.(388-390)gCc>gTc	p.A130V	C5AR2_ENST00000257267.2_Missense_Mutation_p.A130V|C5AR2_ENST00000600626.1_Missense_Mutation_p.A130V	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GCTCTCAGTGCCGACCTCTGC	0.677000													24	58					0	0	0.003954	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184070	19184070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:19184070C>T	ENST00000375371.3	-	2	259	c.238G>A	c.(238-240)Gag>Aag	p.E80K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	80					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TTGATCTCCTCCACCGCAAAG	0.542000													17	26					0	0	0.007413	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689791	83689791	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:83689791G>A	ENST00000265362.3	-	5	851	c.537C>T	c.(535-537)tcC>tcT	p.S179S	SEMA3A_ENST00000436949.1_Silent_p.S179S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	179	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTATTAAAAGGGATGCTGTCA	0.348000													60	92					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240370323	240370323	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:240370323G>A	ENST00000319653.9	+	5	2441	c.2211G>A	c.(2209-2211)agG>agA	p.R737R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	737					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATCATAGGATTTTAGAGG	0.567000													6	20					0	0	0.001984	0	0
DCC	1630	broad.mit.edu	37	18	50705432	50705432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:50705432G>A	ENST00000442544.2	+	9	2135	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	DCC_ENST00000412726.1_Missense_Mutation_p.E355K|DCC_ENST00000581580.1_Missense_Mutation_p.E162K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	507	Fibronectin type-III 1.				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)		GGCTTACAATGAATGGGGACC	0.483000													10	25					0	0	0.006214	0	0
MYH11	4629	broad.mit.edu	37	16	15835634	15835634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:15835634C>T	ENST00000338282.6	-	21	2741	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K	MYH11_ENST00000452625.2_Missense_Mutation_p.E886K|MYH11_ENST00000396324.3_Missense_Mutation_p.E886K|MYH11_ENST00000300036.5_Missense_Mutation_p.E879K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.E879K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	879					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCTTCTGTTCCAGCTCCTTA	0.612000			T	CBFB	AML								31	95					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179542556C>T	ENST00000589042.1	-	146	34307	c.34083G>A	c.(34081-34083)gaG>gaA	p.E11361E	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.E10117E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E11044E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11044	Glu-rich.|Pro-rich.						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)			GTAGAACTTCCTCTTCAGGAA	0.428000													20	66					0	0	0.007413	0	0
OR4D10	390197	broad.mit.edu	37	11	59245552	59245552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:59245552C>T	ENST00000530162.1	+	1	707	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGGTGTCCTACATAGTC	0.483000													13	28					0	0	0.001855	0	0
HECTD4	283450	broad.mit.edu	37	12	112622448	112622448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:112622448G>A	ENST00000550722.1	-	61	10279	c.9884C>T	c.(9883-9885)aCc>aTc	p.T3295I	HECTD4_ENST00000377560.5_Missense_Mutation_p.T3269I|HECTD4_ENST00000430131.2_Missense_Mutation_p.T3019I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGCTTCTTGGTGTCTTCTTC	0.622000													24	48					0	0	0.002780	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516577	140516577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140516577G>A	ENST00000231134.5	+	1	1778	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCA	0.701000													9	51					0	0	0.006214	0	0
CACNA1A	773	broad.mit.edu	37	19	13418658	13418658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:13418658C>T	ENST00000360228.5	-	15	1923	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D643N	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	643					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)	GTCCCTTCATCGAAATTAAAC	0.547000													19	63					0	0	0.012319	0	0
CNST	163882	broad.mit.edu	37	1	246811154	246811154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:246811154C>T	ENST00000366513.4	+	9	1920	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L551F	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	551					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTGAACAGCCTTTTAGAAGG	0.428000													15	70					0	0	0.004990	0	0
COL11A1	1301	broad.mit.edu	37	1	103345354	103345354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:103345354C>T	ENST00000358392.2	-	66	5512	c.5195G>A	c.(5194-5196)tGg>tAg	p.W1732*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.W1604*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.W1681*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.W1720*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1720	Fibrillar collagen NC1.				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)		CACATCATACCAGGCTGCTGA	0.423000													14	32					0	0	0.001855	0	0
ZBED2	79413	broad.mit.edu	37	3	111312497	111312497	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:111312497C>T	ENST00000317012.4	-	2	1560	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	184							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TGGCCCTTTCCACCTCCTCCA	0.582000													14	25					0	0	0.002450	0	0
FCGR1B	2210	broad.mit.edu	37	1	120927157	120927157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:120927157C>T	ENST00000369384.4	-	5	865	c.823G>A	c.(823-825)Gag>Aag	p.E275K	RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E183K|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	275					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCTGGGGCTCCTTCCGGTGC	0.547000													8	39					0	0	0.010729	0	0
ULBP3	79465	broad.mit.edu	37	6	150385816	150385816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:150385816G>A	ENST00000367339.1	-	4	690	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ULBP3_ENST00000438272.2_Missense_Mutation_p.P221L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	221					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TATGGCTTTGGGTTGAGCTAA	0.527000													31	22					0	0	0.013726	0	0
RHOU	58480	broad.mit.edu	37	1	228879481	228879481	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:228879481C>T	ENST00000366691.3	+	3	1437	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	257					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACTGCTGTTTCGTATGATGCT	0.408000													9	29					0	0	0.006214	0	0
MGAM	8972	broad.mit.edu	37	7	141736006	141736006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:141736006C>T	ENST00000475668.2	+	17	2051	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	MGAM_ENST00000549489.2_Missense_Mutation_p.P666L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	666	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGACACCCCTGAGGAGCTC	0.498000													3	17					0	0	0.009096	0	0
PCSK6	5046	broad.mit.edu	37	15	101906451	101906451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:101906451G>A	ENST00000348070.1	-	14	1804	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	PCSK6_ENST00000398181.2_Missense_Mutation_p.T602I|PCSK6_ENST00000358417.3_Missense_Mutation_p.T602I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.T602I|PCSK6_ENST00000331826.7_Missense_Mutation_p.T437I	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	603	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATTTCCAAGGTCCACTGCCC	0.502000													8	15					0	0	0.004482	0	0
IL36G	56300	broad.mit.edu	37	2	113737642	113737642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113737642G>A	ENST00000259205.4	+	4	286	c.217G>A	c.(217-219)Gat>Aat	p.D73N	IL36G_ENST00000376489.2_Missense_Mutation_p.D38N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	73					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGAGGGGATCCCATTTA	0.418000													4	27					0	0	0.009096	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674773	25674773	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:25674773C>T	ENST00000382051.3	+	10	1163	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	SLC34A2_ENST00000504570.1_Silent_p.L370L|SLC34A2_ENST00000503434.1_Silent_p.L370L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	371					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGCTCATACTCTCCCTGCTGG	0.517000			T	ROS1	NSCLC								36	78					0	0	0.004289	0	0
ZNF160	90338	broad.mit.edu	37	19	53571608	53571608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:53571608G>A	ENST00000601421.1	-	3	2947	c.2071C>T	c.(2071-2073)Cat>Tat	p.H691Y	ZNF160_ENST00000599056.1_Missense_Mutation_p.H727Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H727Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H727Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	727					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCCCAGTATGGATTGCCTGA	0.443000													14	55					0	0	0.004007	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811688	5811688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:5811688G>A	ENST00000381095.3	-	6	2248	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	NLGN4X_ENST00000538097.1_Missense_Mutation_p.P541S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P561S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P541S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P541S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	541					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			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTATCCTGAGGAACTGGTTGA	0.403000													25	30					0	0	0.005443	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418538	105418538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:105418538C>T	ENST00000333244.5	-	7	3369	c.3250G>A	c.(3250-3252)Gtg>Atg	p.V1084M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1084						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCATCTCCACCTTGGGCAAG	0.617000													53	125					0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9317861	9317861	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9317861A>G	ENST00000261336.2	-	19	2389	c.2361T>C	c.(2359-2361)tcT>tcC	p.S787S	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.S656S	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						AGGCAGTGGAAGAGATACCAA	0.562000													13	42					0	0	0.002450	0	0
COL4A6	1288	broad.mit.edu	37	X	107431209	107431209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:107431209C>T	ENST00000334504.7	-	22	1869	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	COL4A6_ENST00000538570.1_Missense_Mutation_p.E546K|COL4A6_ENST00000372216.4_Missense_Mutation_p.E547K|COL4A6_ENST00000394872.2_Missense_Mutation_p.E547K|COL4A6_ENST00000545689.1_Missense_Mutation_p.E546K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	547	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAATTGGTTCCCCCTTCTTT	0.512000									Alport syndrome with Diffuse Leiomyomatosis				22	38					0	0	0.003330	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524240	26524240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:26524240G>A	ENST00000456354.2	+	4	590	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	175					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATTAATGAAATCAATAT	0.522000													7	28					0	0	0.003080	0	0
NEK5	341676	broad.mit.edu	37	13	52660478	52660478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:52660478C>T	ENST00000355568.4	-	16	1553	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	472							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGCGTATTTCCTCTAACTGC	0.358000													17	28					0	0	0.010504	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096368	36096368	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:36096368T>G	ENST00000258840.6	-	34	5798	c.5408A>C	c.(5407-5409)cAa>cCa	p.Q1803P	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q1756P|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.Q1756P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q1769P			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1756	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGAGGTTTTTGAGGTATTGG	0.338000													13	32					0	0	0.008871	0	0
TCHH	7062	broad.mit.edu	37	1	152081564	152081564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:152081564G>A	ENST00000368804.1	-	2	4128	c.4129C>T	c.(4129-4131)Ctc>Ttc	p.L1377F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1377	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCGAGGAATTTTCTC	0.597000													60	55					0	0	0.014410	0	0
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:121740439C>T	ENST00000452319.1	+	11	1726	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	GLI2_ENST00000314490.11_Missense_Mutation_p.R228C|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R556C			P10070	GLI2_HUMAN	GLI family zinc finger 2	556					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627000													4	31					0	0	0.000602	0	0
RBM25	58517	broad.mit.edu	37	14	73566103	73566103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:73566103C>T	ENST00000261973.7	+	8	1030	c.745C>T	c.(745-747)Cca>Tca	p.P249S	RBM25_ENST00000540173.1_Missense_Mutation_p.P249S|RBM25_ENST00000525321.1_Missense_Mutation_p.P249S|RBM25_ENST00000527432.1_Missense_Mutation_p.P249S|RBM25_ENST00000526754.1_Missense_Mutation_p.P249S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	249					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCGCAGATTTCCAGTGGCCCC	0.358000													25	38					0	0	0.007291	0	0
DSG2	1829	broad.mit.edu	37	18	29101112	29101112	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:29101112A>C	ENST00000261590.8	+	5	638	c.429A>C	c.(427-429)ttA>ttC	p.L143F	DSG2_ENST00000585206.1_Missense_Mutation_p.L143F	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	143	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACCCTTAGAGCTACGCA	0.378000													6	38					0	0	0.001168	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040934	184040934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:184040934G>A	ENST00000342981.4	+	13	2407	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	EIF4G1_ENST00000346169.2_Missense_Mutation_p.D665N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D469N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D501N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D625N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D625N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D672N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D501N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D672N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D578N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D469N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D665N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D578N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D672N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	665	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGCCCAGACTTCACTCC	0.597000													14	58					0	0	0.002450	0	0
HEATR1	55127	broad.mit.edu	37	1	236749560	236749560	+	Silent	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:236749560T>C	ENST00000366582.3	-	15	2022	c.1908A>G	c.(1906-1908)ctA>ctG	p.L636L	HEATR1_ENST00000366581.2_Silent_p.L636L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	636					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCTCTTAATAGAGGGTGCA	0.318000													17	17					0	0	0.004990	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								7	45					0	0	0.006214	0	0
HLTF	6596	broad.mit.edu	37	3	148793736	148793736	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:148793736G>A	ENST00000310053.5	-	3	520	c.327C>T	c.(325-327)ggC>ggT	p.G109G	HLTF_ENST00000465259.1_Silent_p.G109G|HLTF_ENST00000494055.1_Silent_p.G109G|HLTF_ENST00000392912.2_Silent_p.G109G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	109					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTTAAATGGCCAACTTGAT	0.318000													18	20					0	0	0.004990	0	0
CD4	920	broad.mit.edu	37	12	6927668	6927668	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:6927668G>C	ENST00000011653.4	+	8	1496	c.1238G>C	c.(1237-1239)gGg>gCg	p.G413A		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	413					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTTTCATTGGGCTAGGCATC	0.607000													5	40					0	0	0.001168	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307670	88307670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:88307670C>T	ENST00000357081.3	-	3	235	c.91G>A	c.(91-93)Gag>Aag	p.E31K	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.E31K|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E83K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E31K|AGTPBP1_ENST00000376080.1_5'UTR|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	31					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TCTGAAGGCTCAGCATTGATC	0.393000													12	34					0	0	0.010729	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													18	119					0	0	0.012319	0	0
KCNK13	56659	broad.mit.edu	37	14	90651046	90651046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:90651046C>T	ENST00000282146.4	+	2	1367	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	309						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCTTGCGATCACGCAGGAAC	0.577000													29	34					0	0	0.010818	0	0
CD4	920	broad.mit.edu	37	12	6925279	6925279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:6925279C>T	ENST00000011653.4	+	6	923	c.665C>T	c.(664-666)tCc>tTc	p.S222F	CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	222	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GTGGAGTTCTCCTTCCCACTC	0.562000													28	43					0	0	0.005443	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964105	7964105	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:7964105C>A	ENST00000306708.6	+	3	799	c.698C>A	c.(697-699)gCc>gAc	p.A233D	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	233						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CAAGCCAAAGCCCTGTTTGAG	0.547000													8	26					0.000157383	0.00032979	0.003080	1	0
FAM134A	79137	broad.mit.edu	37	2	220047114	220047114	+	Silent	SNP	C	C	T	rs139810951		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:220047114C>T	ENST00000430297.2	+	9	1531	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	465						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCCCTTCCATTCTCCCAC	0.627000													12	50					0	0	0.003163	0	0
NID2	22795	broad.mit.edu	37	14	52481898	52481898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:52481898G>A	ENST00000216286.5	-	15	3123	c.3124C>T	c.(3124-3126)Cag>Tag	p.Q1042*	NID2_ENST00000541773.1_Nonsense_Mutation_p.Q941*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1042	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCATCGCACTGGGGCACGTAC	0.642000													7	35					0	0	0.004482	0	0
TNXB	7148	broad.mit.edu	37	6	32037516	32037516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:32037516C>T	ENST00000375244.3	-	15	5602	c.5401G>A	c.(5401-5403)Ggc>Agc	p.G1801S	TNXB_ENST00000375247.2_Missense_Mutation_p.G1801S			P22105	TENX_HUMAN	tenascin XB	1883	Fibronectin type-III 10.				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						TCAAACTGGCCCTCAGGGACT	0.647000													134	173					0	0	0.014410	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:19378035C>T	ENST00000550708.1	+	1	514	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000													8	189					0	0	0.002780	0	0
DLG2	1740	broad.mit.edu	37	11	83810091	83810091	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:83810091C>T	ENST00000398309.2	-	5	780		c.e5-1		DLG2_ENST00000524982.1_Splice_Site|DLG2_ENST00000531015.1_Splice_Site|DLG2_ENST00000418306.2_Splice_Site|DLG2_ENST00000543673.1_Splice_Site|DLG2_ENST00000376104.2_Splice_Site|DLG2_ENST00000376106.3_Splice_Site|DLG2_ENST00000280241.8_Splice_Site|DLG2_ENST00000398301.2_Splice_Site|DLG2_ENST00000330014.6_Splice_Site|DLG2_ENST00000537455.1_Splice_Site|DLG2_ENST00000532653.1_Splice_Site	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGAATTCCCCTATAGAAACA	0.413000													10	12					0	0	0.010729	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542991	182542991	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:182542991C>T	ENST00000295108.3	-	2	1054	c.597G>A	c.(595-597)caG>caA	p.Q199Q	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	199					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCCTGGTTCTGCTCAGGCA	0.612000											OREG0005603	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	40	172					0	0	0.011902	0	0
OR4C13	283092	broad.mit.edu	37	11	49974376	49974376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:49974376G>A	ENST00000555099.1	+	1	434	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCACCGTCATGAAGCAGCATG	0.463000													22	25					0	0	0.003954	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913112	131913112	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:131913112T>A	ENST00000359827.3	-	6	2683	c.1721A>T	c.(1720-1722)aAc>aTc	p.N574I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.N574I			Q9HCM2	PLXA4_HUMAN	plexin A4	574						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TACCAGCACGTTGTACTGAGA	0.592000													4	35					0	0	0.000602	0	0
AOC4P	90586	broad.mit.edu	37	17	41020359	41020359	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:41020359G>A	ENST00000585538.1	+	0	1198					NR_002773.1																						CCCTTCCAAGGGGAGAGGGTG	0.547000													6	9					0	0	0.001168	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143909	142143909	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:142143909G>A	ENST00000390373.2	-	0	86																											TCAGGACGTGGAATTTTGGGG	0.522000													13	52					0	0	0.013537	0	0
TRBC2	28638	broad.mit.edu	37	7	142499826	142499826	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:142499826C>T	ENST00000466254.1	+	0	443																											CCACCATCCTCTATGAGATCT	0.567000													19	39					0	0	0.010504	0	0
COL4A1	1282	broad.mit.edu	37	13	110839489	110839489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:110839489G>A	ENST00000375820.4	-	25	1845	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	575	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACATACCGGCGAGCCCTTGGG	0.488000													29	82					0	0	0.013726	0	0
NXPE4	54827	broad.mit.edu	37	11	114453715	114453715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:114453715G>A	ENST00000375478.3	-	3	305	c.125C>T	c.(124-126)tCc>tTc	p.S42F	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		GTAATGGAGGGAGATGGATAA	0.383000													16	78					0	0	0.004990	0	0
RAVER1	125950	broad.mit.edu	37	19	10432267	10432267	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:10432267G>A	ENST00000293677.6	-	7	1333	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	401	Pro-rich.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGGGCGCCCAGGGGTGAGTCT	0.682000													9	28					0	0	0.008291	0	0
SELL	6402	broad.mit.edu	37	1	169672429	169672429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:169672429C>T	ENST00000236147.4	-	6	1118	c.958G>A	c.(958-960)Gga>Aga	p.G320R	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	307					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GACCAGATTCCAGATGATTCA	0.428000													5	25					0	0	0.001168	0	0
CCR7	1236	broad.mit.edu	37	17	38712014	38712014	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:38712014C>T	ENST00000246657.2	-	3	179	c.117G>A	c.(115-117)gtG>gtA	p.V39V	CCR7_ENST00000579344.1_Silent_p.V33V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	39					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAGTGTAGTCCACTGTGGTGT	0.498000													6	50					0	0	0.001168	0	0
INPP5B	3633	broad.mit.edu	37	1	38351420	38351420	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:38351420G>A	ENST00000373023.2	-	13	1542	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	INPP5B_ENST00000373024.3_Silent_p.A403A|INPP5B_ENST00000373026.1_Silent_p.A483A|INPP5B_ENST00000458109.2_Intron|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Silent_p.A239A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTCAATGTGGGCTGCCAAGT	0.507000													36	69					0	0	0.004878	0	0
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:73730438C>T	ENST00000427855.1	+	20	2911	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	PAPLN_ENST00000381166.3_Missense_Mutation_p.P937S|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937S|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.P910S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	937	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642000													10	18					0	0	0.006214	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382809	56382809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:56382809G>A	ENST00000355701.3	-	29	6242	c.5372C>T	c.(5371-5373)cCc>cTc	p.P1791L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1731L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1791L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1791	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCGGAAGGGCAGCTCTGC	0.577000													34	29					0	0	0.004289	0	0
RYR1	6261	broad.mit.edu	37	19	38991538	38991538	+	Missense_Mutation	SNP	C	C	T	rs118192178		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:38991538C>T	ENST00000355481.4	+	47	7653	c.7522C>T	c.(7522-7524)Cgt>Tgt	p.R2508C	RYR1_ENST00000359596.3_Missense_Mutation_p.R2508C|RYR1_ENST00000360985.3_Missense_Mutation_p.R2508C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2508	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	CTTCCTGGACCGTGTGTATGG	0.622000													12	16					0	0	0.013537	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573667	140573667	+	Silent	SNP	C	C	T	rs17844573		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140573667C>T	ENST00000239446.4	+	1	1726	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCCCTCAGGT	0.701000													14	96					0	0	0.010504	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:170028181G>A	ENST00000284637.9	-	11	2656	c.2315C>T	c.(2314-2316)tCc>tTc	p.S772F		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	772						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662000													4	27					0	0	0.009096	0	0
WDR49	151790	broad.mit.edu	37	3	167319957	167319957	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:167319957G>A	ENST00000308378.3	-	3	515	c.210C>T	c.(208-210)ttC>ttT	p.F70F	WDR49_ENST00000453925.2_Silent_p.F123F|WDR49_ENST00000479765.1_Silent_p.F411F	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTCCACAAAGAATTGGACGG	0.398000													7	48					0	0	0.001984	0	0
UTP6	55813	broad.mit.edu	37	17	30207772	30207772	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:30207772G>A	ENST00000261708.4	-	11	924	c.785_splice	c.e11-1	p.L263_splice	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	263					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGAGCCTGAAGGCTGAAAAAT	0.403000													8	53					0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:79399128G>A	ENST00000264895.6	+	55	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458000													4	15					0	0	0.009096	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546929	37546929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:37546929G>A	ENST00000299824.1	+	11	1513	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.G400R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	442					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCTGGCCAACGGGGATGTCTG	0.607000													54	90					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13776634	13776634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:13776634C>T	ENST00000265104.4	-	55	9391	c.9287G>A	c.(9286-9288)cGa>cAa	p.R3096Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTGTTTCGAAATTTCTC	0.478000									Kartagener syndrome				10	44					0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55539179	55539179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:55539179C>T	ENST00000220676.1	+	4	2885	c.2737C>T	c.(2737-2739)Caa>Taa	p.Q913*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	913					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCATTCAATTCAAAATTATAT	0.333000													13	37					0	0	0.003163	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669205	48669205	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:48669205G>A	ENST00000358747.6	-	6	967	c.717C>T	c.(715-717)ccC>ccT	p.P239P	SLC26A6_ENST00000395550.2_Silent_p.P260P|SLC26A6_ENST00000383733.3_Silent_p.P260P|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Silent_p.P153P|SLC26A6_ENST00000455886.2_Silent_p.P224P|SLC26A6_ENST00000420764.2_Silent_p.P260P	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCTTGCTCTGGGGCAGCTTCC	0.627000													11	46					0	0	0.010729	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546031	178546031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:178546031C>T	ENST00000432997.1	+	4	645	c.293C>T	c.(292-294)tCc>tTc	p.S98F	KCNMB2_ENST00000358316.3_Missense_Mutation_p.S98F|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.S98F|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.S98F|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	98					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TTTAATTGCTCCTTCAGCTGT	0.522000													5	37					0	0	0.001168	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	47					0	0	0.004007	0	0
SYCE1	93426	broad.mit.edu	37	10	135372393	135372393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:135372393C>T	ENST00000368517.3	-	4	289	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.E51K|SYCE1_ENST00000343131.5_Missense_Mutation_p.E87K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	87					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GAGTCCAGTTCCTTCTGCAGG	0.522000													6	11					0	0	0.003080	0	0
IPO11	51194	broad.mit.edu	37	5	61779893	61779893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:61779893C>T	ENST00000325324.6	+	11	1247	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.P400S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	360						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTCACATATCCTACTTTGAC	0.353000													6	46					0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157494241	157494241	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:157494241G>A	ENST00000361835.3	-	10	2224	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	FCRL5_ENST00000356953.4_Silent_p.I689I|FCRL5_ENST00000368190.3_Silent_p.I689I|FCRL5_ENST00000368191.3_Silent_p.I604I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	689	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTACAGGATTGGGGAGG	0.577000													26	29					0	0	0.004656	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724535	38724535	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:38724535G>A	ENST00000342213.2	-	1	1039	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	231						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCGAGCGCCGATTTCGTCCG	0.632000													21	98					0	0	0.002780	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813728	100813728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:100813728G>A	ENST00000323346.5	+	12	1874	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.G471R	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	521					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGAAATGTGGAATCATTGA	0.483000													17	24					0	0	0.004990	0	0
IGSF10	285313	broad.mit.edu	37	3	151164727	151164727	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:151164727C>T	ENST00000282466.3	-	4	3041	c.3042G>A	c.(3040-3042)agG>agA	p.R1014R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1014					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCCAATTTTCCTCTGCCTCC	0.493000													19	36					0	0	0.007413	0	0
NBPF12	149013	broad.mit.edu	37	1	146466070	146466070	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:146466070G>A	ENST00000442909.2	+	82	10781	c.9945G>A	c.(9943-9945)acG>acA	p.T3315T	NBPF12_ENST00000309471.8_3'UTR|NBPF12_ENST00000446760.2_3'UTR					neuroblastoma breakpoint family, member 12											ovary(2)	2						TTACTTTGACGGTGACAAGTC	0.463000													7	87					0	0	0.004007	0	0
SPDYA	245711	broad.mit.edu	37	2	29072765	29072765	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:29072765G>A	ENST00000334056.5	+	8	1089	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SPDYA_ENST00000379579.4_Silent_p.K300K|TRMT61B_ENST00000306108.5_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	300					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTGAAGAAAGACAAAT	0.294000													5	24					0	0	0.001984	0	0
IQCF3	401067	broad.mit.edu	37	3	51864710	51864710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:51864710C>T	ENST00000456080.1	+	8	1523	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	IQCF3_ENST00000440739.2_Nonsense_Mutation_p.Q120*|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.Q120*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.Q120*|IQCF3_ENST00000444293.1_Missense_Mutation_p.P83L|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	120										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCTTGTTCCAGGTCCCAGA	0.532000													15	30					0	0	0.002450	0	0
TBATA	219793	broad.mit.edu	37	10	72537079	72537079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:72537079C>T	ENST00000299290.1	-	7	909	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TBATA_ENST00000456372.2_Missense_Mutation_p.E174K	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		AGAGGCTCCTCCTTCTGCTCC	0.657000													14	13					0	0	0.004007	0	0
MARCH10	162333	broad.mit.edu	37	17	60802403	60802403	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:60802403C>A	ENST00000544856.2	-	8	2375	c.1997G>T	c.(1996-1998)gGt>gTt	p.G666V	RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.G667V|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.G705V|MARCH10_ENST00000456609.2_Missense_Mutation_p.G667V|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	667							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTTGGGGAACCCCCGGCTAT	0.542000													20	27					2.89027e-11	6.08408e-11	0.014323	1	0
ATG7	10533	broad.mit.edu	37	3	11389359	11389359	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:11389359C>T	ENST00000354449.3	+	12	1159	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G	ATG7_ENST00000446450.2_Silent_p.G339G|ATG7_ENST00000354956.5_Silent_p.G378G	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	378					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.G378G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGGTTGGGGCGTGAGACACA	0.463000													17	16					0	0	0.007413	0	0
G6PD	2539	broad.mit.edu	37	X	153760655	153760655	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:153760655T>A	ENST00000393562.2	-	11	1783	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	G6PD_ENST00000369620.2_Missense_Mutation_p.Y483F|G6PD_ENST00000393564.2_Missense_Mutation_p.Y437F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	437					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGCGCTCGTAGGCGTCAGG	0.662000													12	14					0	0	0.010729	0	0
ALPK2	115701	broad.mit.edu	37	18	56202246	56202246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:56202246C>T	ENST00000361673.3	-	5	5386	c.5173G>A	c.(5173-5175)Gag>Aag	p.E1725K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1725							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTACTCCCTCAGCTAAATGT	0.502000													11	32					0	0	0.008291	0	0
UNC79	57578	broad.mit.edu	37	14	94079186	94079186	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:94079186C>T	ENST00000553484.1	+	28	4018	c.3864C>T	c.(3862-3864)ctC>ctT	p.L1288L	UNC79_ENST00000256339.4_Silent_p.L1089L|UNC79_ENST00000393151.2_Silent_p.L1266L|UNC79_ENST00000555664.1_Silent_p.L1266L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1266						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGACCTGCTCCCAGAAGACG	0.502000													4	46					0	0	0.009096	0	0
NHS	4810	broad.mit.edu	37	X	17710501	17710501	+	Silent	SNP	C	C	T	rs143119491	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:17710501C>T	ENST00000380060.3	+	3	1103	c.765C>T	c.(763-765)ccC>ccT	p.P255P	NHS_ENST00000398097.3_Silent_p.P78P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	255						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCTGCCCCCCTTTCCATTG	0.517000													15	37					0	0	0.004007	0	0
IFNW1	3467	broad.mit.edu	37	9	21141108	21141108	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:21141108C>T	ENST00000380229.2	-	1	1036	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	154					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473000													11	25					0	0	0.008291	0	0
MUT	4594	broad.mit.edu	37	6	49408038	49408038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:49408038G>A	ENST00000274813.3	-	11	1964	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	613					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAGGTCTGCGACCTTCACGT	0.353000													18	65					0	0	0.007413	0	0
RIMS2	9699	broad.mit.edu	37	8	104922429	104922429	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr8:104922429G>A	ENST00000507740.1	+	3	1352	c.1116_splice	c.e3+1	p.L372_splice	RIMS2_ENST00000436393.2_Splice_Site_p.L342_splice|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Splice_Site_p.L564_splice	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	642					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAATGTCTTTGGTGAGACATG	0.368000										HNSCC(12;0.0054)			23	58					0	0	0.014323	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:117311214C>T	ENST00000369478.3	+	5	973	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	289	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000													8	23					0	0	0.003080	0	0
ASH1L	55870	broad.mit.edu	37	1	155491015	155491015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:155491015G>A	ENST00000368346.3	-	2	935	c.296C>T	c.(295-297)cCt>cTt	p.P99L	ASH1L_ENST00000392403.3_Missense_Mutation_p.P99L|ASH1L_ENST00000548830.1_Missense_Mutation_p.P99L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	99					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTCTTTGGAGGTTTTTTAGT	0.373000													18	118					0	0	0.006122	0	0
AE000661.37	0	broad.mit.edu	37	14	22932732	22932732	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:22932732C>T	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							CTCTTCATTCCCAATGTAACC	0.453000													4	3					0	0	0.000602	0	0
VSTM1	284415	broad.mit.edu	37	19	54545422	54545422	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:54545422C>T	ENST00000338372.2	-	6	691		c.e6+1		VSTM1_ENST00000376626.1_Splice_Site|VSTM1_ENST00000366170.2_Splice_Site|VSTM1_ENST00000425006.2_Splice_Site	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1							integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAAGCATCTACCTCTTGGTGG	0.512000													22	68					0	0	0.004656	0	0
DGKK	139189	broad.mit.edu	37	X	50129463	50129463	+	RNA	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:50129463G>A	ENST00000376025.2	-	0	2299							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGAATGAAGGGCTTCCTATC	0.473000													20	28					0	0	0.007413	0	0
ACSM1	116285	broad.mit.edu	37	16	20648710	20648710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:20648710G>A	ENST00000219151.4	-	8	1247	c.37C>T	c.(37-39)Cca>Tca	p.P13S	ACSM1_ENST00000307493.4_Missense_Mutation_p.P394S|ACSM1_ENST00000520010.1_Missense_Mutation_p.P394S			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	394					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCGTAGGGTGGAGTGGCCTTC	0.537000													26	84					0	0	0.009535	0	0
SERINC3	10955	broad.mit.edu	37	20	43139984	43139984	+	Missense_Mutation	SNP	G	G	A	rs11559232		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:43139984G>A	ENST00000342374.4	-	4	578	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	SERINC3_ENST00000541235.1_Missense_Mutation_p.L86F|SERINC3_ENST00000255175.1_Missense_Mutation_p.L141F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	141						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATTCCAATAAGGGCAGCAATT	0.348000													9	32					0	0	0.008291	0	0
C19orf18	147685	broad.mit.edu	37	19	58485503	58485503	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:58485503A>G	ENST00000314391.3	-	2	291	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	64						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATCCCAGGCAACTGGGTTTTA	0.468000													18	49					0	0	0.010504	0	0
HCAR1	27198	broad.mit.edu	37	12	123214635	123214635	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:123214635C>T	ENST00000432564.1	-	1	494	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HCAR1_ENST00000436083.2_Silent_p.G84G|HCAR1_ENST00000356987.2_Silent_p.G84G	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	84					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AGGGAATGTCCCCAAAAGCCC	0.532000													4	16					0	0	0.009096	0	0
UGP2	7360	broad.mit.edu	37	2	64118256	64118256	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:64118256A>G	ENST00000337130.5	+	10	1898	c.1422A>G	c.(1420-1422)ggA>ggG	p.G474G	UGP2_ENST00000445915.2_Silent_p.G483G|UGP2_ENST00000467648.2_Silent_p.G463G|UGP2_ENST00000394417.2_Silent_p.G463G	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	474	Oligomerization (By similarity).				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TCACTTAGGGAACGGTTATCA	0.368000													8	27					0	0	0.003080	0	0
PDE4D	5144	broad.mit.edu	37	5	58489357	58489357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:58489357C>T	ENST00000340635.6	-	3	828	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PDE4D_ENST00000360047.5_Missense_Mutation_p.G82E|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154E|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157E|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96E|PDE4D_ENST00000507116.1_Missense_Mutation_p.G154E|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157E|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88E	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CAAGTCATCTCCGTGTCTGAA	0.398000													5	16					0	0	0.001984	0	0
GDF5	8200	broad.mit.edu	37	20	34022112	34022112	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:34022112C>T	ENST00000374372.1	-	4	1604	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	GDF5_ENST00000374369.3_Silent_p.K367K|GDF5OS_ENST00000374375.1_Silent_p.V52V			P43026	GDF5_HUMAN	growth differentiation factor 5	367					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.K367N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CATACACGGTCTTATCGTCCT	0.597000													23	100					0	0	0.007291	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:107049684C>T	ENST00000409886.3	-	16	2350	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E755K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000													31	220					0	0	0.003755	0	0
DGKG	1608	broad.mit.edu	37	3	186015888	186015888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:186015888G>A	ENST00000265022.3	-	4	814	c.275C>T	c.(274-276)aCg>aTg	p.T92M	DGKG_ENST00000382164.4_Missense_Mutation_p.T92M|DGKG_ENST00000344484.4_Missense_Mutation_p.T92M|DGKG_ENST00000544847.1_Missense_Mutation_p.T92M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	92					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.T92M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GGCTCCCTCCGTCGGGTGGTC	0.617000													16	46					0	0	0.008871	0	0
BVES	11149	broad.mit.edu	37	6	105563561	105563561	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:105563561G>A	ENST00000314641.5	-	7	1174	c.958_splice	c.e7+1	p.H320_splice	BVES_ENST00000446408.2_Splice_Site_p.H320_splice|BVES_ENST00000336775.5_Splice_Site_p.H320_splice	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	320					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATAACTTACGAAGAGAGGAC	0.443000													43	25					0	0	0.014410	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618277	28618277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:28618277C>T	ENST00000395609.1	-	7	1252	c.494G>A	c.(493-495)gGa>gAa	p.G165E	SULT1A1_ENST00000569554.1_Missense_Mutation_p.G165E|SULT1A1_ENST00000395607.1_Missense_Mutation_p.G165E|SULT1A1_ENST00000314752.7_Missense_Mutation_p.G165E|SULT1A1_ENST00000350842.4_Missense_Mutation_p.G87E			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	165					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCCACCTTCTCCGACCATGAA	0.567000													8	59					0	0	0.004482	0	0
SETDB2	83852	broad.mit.edu	37	13	50055134	50055134	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:50055134C>T	ENST00000354234.4	+	8	1944	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	SETDB2_ENST00000317257.8_Silent_p.N358N|SETDB2_ENST00000258672.5_Silent_p.N346N	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	358	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGTGTCAAAACCGAGTTGTCC	0.413000													12	50					0	0	0.001855	0	0
ASIC2	40	broad.mit.edu	37	17	31350947	31350947	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:31350947C>T	ENST00000225823.2	-	6	2153	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ASIC2_ENST00000359872.6_Silent_p.V376V|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	376					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGGGATCTTCACCATGGAGA	0.478000													31	34					0	0	0.013726	0	0
ZNF98	148198	broad.mit.edu	37	19	22605023	22605023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:22605023G>A	ENST00000357774.5	-	1	125	c.4C>T	c.(4-6)Cca>Tca	p.P2S	ZNF98_ENST00000601553.1_Missense_Mutation_p.P2S	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGGGTCCTGGCATCTTAGCT	0.597000													11	60					0	0	0.003163	0	0
USP26	83844	broad.mit.edu	37	X	132162238	132162238	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:132162238A>C	ENST00000511190.1	-	6	480	c.11T>G	c.(10-12)cTa>cGa	p.L4R	USP26_ENST00000406273.1_Missense_Mutation_p.L4R|USP26_ENST00000370832.1_Missense_Mutation_p.L4R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	4					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACGTAGGAATAGGGCAGCCAT	0.363000													11	33					0	0	0.008291	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701699	150701699	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:150701699T>C	ENST00000335244.4	-	9	1217	c.1088A>G	c.(1087-1089)gAa>gGa	p.E363G	SLC36A2_ENST00000450886.1_Missense_Mutation_p.E87G|SLC36A2_ENST00000521967.1_Missense_Mutation_p.E363G	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	363					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGATGATTTCTGCAGGGAC	0.552000													12	19					0	0	0.010729	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967308	142967308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:142967308C>T	ENST00000370494.1	+	1	136	c.106C>T	c.(106-108)Cat>Tat	p.H36Y		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	36							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTATTTTCATGTGGTCAT	0.498000													28	45					0	0	0.006320	0	0
MYH8	4626	broad.mit.edu	37	17	10312747	10312747	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:10312747C>T	ENST00000403437.2	-	16	1840	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	582	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATAGTGAATCAGAGAGAAGT	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	38					0	0	0.014410	0	0
UCP1	7350	broad.mit.edu	37	4	141489767	141489767	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:141489767G>A	ENST00000262999.3	-	1	192	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	39					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CCTGGAGCCGGACTTTGGCCG	0.597000													14	20					0	0	0.004990	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	14					0	0	0.000602	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424676	89424676	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:89424676C>T	ENST00000532352.1	+	0	1839							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCGAGAGACTCCAGGACTTTG	0.274000													8	32					0	0	0.003080	0	0
OCEL1	79629	broad.mit.edu	37	19	17338717	17338717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:17338717G>A	ENST00000215061.4	+	4	565	c.521G>A	c.(520-522)gGa>gAa	p.G174E	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Missense_Mutation_p.G118E|OCEL1_ENST00000601529.1_Intron	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	174										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GACCAGTACGGAGAGTTCTTG	0.612000													20	42					0	0	0.012319	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175685	143175685	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:143175685C>T	ENST00000408916.1	+	1	720	c.720C>T	c.(718-720)ctC>ctT	p.L240L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	240					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTCCTTCCTCATTCTTTATG	0.512000													18	54					0	0	0.006122	0	0
A2M	2	broad.mit.edu	37	12	9243923	9243923	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:9243923A>G	ENST00000318602.7	-	19	2650	c.2343T>C	c.(2341-2343)tcT>tcC	p.S781S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	781					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGCAGTGGAAGAGATACCAA	0.567000													5	108					0	0	0.003080	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904811	73904811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:73904811G>A	ENST00000342056.2	+	15	2928	c.2530G>A	c.(2530-2532)Gac>Aac	p.D844N	KCNQ5_ENST00000414165.2_Missense_Mutation_p.D715N|KCNQ5_ENST00000403813.2_Missense_Mutation_p.D816N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D835N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D825N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D826N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D825N	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	825					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGTGCCGAAGGACTTGGGCAA	0.493000													22	28					0	0	0.014323	0	0
HECTD1	25831	broad.mit.edu	37	14	31614085	31614085	+	Silent	SNP	A	A	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:31614085A>T	ENST00000399332.1	-	16	3047	c.2559T>A	c.(2557-2559)cgT>cgA	p.R853R	HECTD1_ENST00000553700.1_Silent_p.R853R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCACTACTCCACGAGGCATGC	0.353000													4	25					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82546172	82546172	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:82546172G>A	ENST00000423517.2	-	7	11467	c.11130C>T	c.(11128-11130)acC>acT	p.T3710T	PCLO_ENST00000437081.1_Silent_p.T430T|PCLO_ENST00000333891.8_Silent_p.T3710T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3641					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGATGTCATGGTTTGAGAAC	0.333000													39	67					0	0	0.009718	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616102	13616102	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:13616102T>A	ENST00000040738.5	-	4	1027	c.892A>T	c.(892-894)Aat>Tat	p.N298Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	298							DNA binding										ATTAAATTATTATGCTCTTTT	0.393000													12	26					0	0	0.001855	0	0
ADC	113451	broad.mit.edu	37	1	33583707	33583707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:33583707C>T	ENST00000294517.6	+	11	1821	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.R432W|ADC_ENST00000398167.1_Missense_Mutation_p.R432W|ADC_ENST00000373443.3_Missense_Mutation_p.R412W	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	412					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TGCCATGTCCCGGGTGGCCTG	0.572000													12	19					0	0	0.013537	0	0
STAB2	55576	broad.mit.edu	37	12	104056642	104056642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:104056642G>A	ENST00000388887.2	+	18	2092	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	630	FAS1 2.				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						TCTGGCAAATGATGTGGCAAT	0.453000													30	34					0	0	0.010818	0	0
RASAL3	64926	broad.mit.edu	37	19	15564263	15564263	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:15564263G>A	ENST00000343625.6	-	15	2405	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	775					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGCTTGGGGAGGTCCCGGG	0.687000													5	8					0	0	0.000602	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265799	3265799	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:3265799C>T	ENST00000576468.1	+	0	418																											ACTTCTTCCTCAGCAACATGT	0.542000													8	27					0	0	0.006214	0	0
MECOM	2122	broad.mit.edu	37	3	168833529	168833529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:168833529G>A	ENST00000464456.1	-	7	2767	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	MECOM_ENST00000264674.3_Missense_Mutation_p.P588S|MECOM_ENST00000392736.3_Missense_Mutation_p.P523S|MECOM_ENST00000433243.2_Missense_Mutation_p.P524S|MECOM_ENST00000472280.1_Missense_Mutation_p.P524S|MECOM_ENST00000494292.1_Missense_Mutation_p.P711S|MECOM_ENST00000468789.1_Missense_Mutation_p.P523S|MECOM_ENST00000460814.1_Missense_Mutation_p.P523S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTCTATCAGGAAATGGGTAC	0.453000													7	35					0	0	0.001984	0	0
OR2M2	391194	broad.mit.edu	37	1	248343737	248343737	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:248343737C>T	ENST00000359682.2	+	1	450	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTCCTGGATCCTGGGCTCTA	0.438000													92	78					0	0	0.014410	0	0
NFKBID	84807	broad.mit.edu	37	19	36387124	36387124	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:36387124G>A	ENST00000396901.1	-	8	1026	c.453C>T	c.(451-453)ttC>ttT	p.F151F	NFKBID_ENST00000606253.1_Silent_p.F151F|NFKBID_ENST00000352614.2_Silent_p.F303F	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	151					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACTTACCCTCGAAGTCTCTGG	0.617000													21	48					0	0	0.002780	0	0
CFAP221	200373	broad.mit.edu	37	2	120373205	120373205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:120373205C>T	ENST00000602047.1	+	15	1584	c.472C>T	c.(472-474)Cct>Tct	p.P158S	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.P444S			Q4G0U5	PCDP1_HUMAN		444						cilium	calmodulin binding					Colorectal(110;0.196)					GGAATTTCATCCTACTTTTGA	0.353000													4	9					0	0	0.009096	0	0
TECPR2	9895	broad.mit.edu	37	14	102918804	102918804	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:102918804C>T	ENST00000359520.7	+	16	3706	c.3480C>T	c.(3478-3480)ccC>ccT	p.P1160P	TECPR2_ENST00000558678.1_Silent_p.P1160P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1160							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGTCGCGGCCCTCCACGGTGC	0.652000													9	11					0	0	0.008291	0	0
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:56466505G>A	ENST00000291971.3	+	3	1152	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E361K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463000													18	43					0	0	0.008871	0	0
DSCAM	1826	broad.mit.edu	37	21	41684189	41684189	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr21:41684189C>T	ENST00000400454.1	-	9	2358	c.1881G>A	c.(1879-1881)acG>acA	p.T627T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	627	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCAGGTGATCGTGATGGGTA	0.532000													7	18					0	0	0.001984	0	0
MAP1B	4131	broad.mit.edu	37	5	71411610	71411610	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:71411610C>T	ENST00000296755.7	+	2	568	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	90						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGCAAGATTCTCTCCTGAAG	0.468000													4	57					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168101641	168101641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:168101641C>T	ENST00000409195.1	+	9	3828	c.3739C>T	c.(3739-3741)Cca>Tca	p.P1247S	XIRP2_ENST00000409273.1_Missense_Mutation_p.P1025S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1247S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1072					actin cytoskeleton organization	cell junction	actin binding			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						TGAAAACCAACCAATTGATAA	0.343000													8	22					0	0	0.003080	0	0
LOC440040	440040	broad.mit.edu	37	11	49831670	49831670	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:49831670C>T	ENST00000527477.1	+	0	1895																											TAGGATTATTCCTGGATTGTG	0.458000													20	31					0	0	0.010504	0	0
SNAP91	9892	broad.mit.edu	37	6	84366578	84366578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:84366578G>A	ENST00000428679.2	-	7	1146	c.553C>T	c.(553-555)Cca>Tca	p.P185S	SNAP91_ENST00000520213.1_Missense_Mutation_p.P185S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P185S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P185S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P185S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P185S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P185S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P185S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P185S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	185					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTCATTTGGATGCACCTAG	0.284000													11	6					0	0	0.010729	0	0
GALNT3	2591	broad.mit.edu	37	2	166616016	166616016	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:166616016G>A	ENST00000392701.3	-	5	1678	c.903C>T	c.(901-903)gtC>gtT	p.V301V	GALNT3_ENST00000409882.1_Silent_p.V39V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	301					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGGACTTACGACAGCCGTGT	0.398000													11	24					0	0	0.013537	0	0
LARP1	23367	broad.mit.edu	37	5	154173508	154173508	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:154173508C>T	ENST00000336314.4	+	6	810	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	339							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTCCGTGGCCGTGGACGGG	0.682000													24	21					0	0	0.003330	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167204	81167204	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:81167204C>T	ENST00000533478.1	-	0	3876				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTTTCTGTTCCTTGAGGTGG	0.542000													9	16					0	0	0.004482	0	0
MIXL1	83881	broad.mit.edu	37	1	226413370	226413370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:226413370G>A	ENST00000366810.5	+	2	620	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.E194K			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	186					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CTGCCTGCCCGAACCAAACGG	0.527000													8	39					0	0	0.003080	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721290	66721290	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:66721290C>T	ENST00000360242.5	+	8	1575	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	CCDC102B_ENST00000319445.6_Silent_p.I486I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	486										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAATCAGATCCGTAAGCTCC	0.363000													15	47					0	0	0.004007	0	0
MPPED2	744	broad.mit.edu	37	11	30439175	30439175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:30439175G>A	ENST00000448418.2	-	5	902	c.542C>T	c.(541-543)cCg>cTg	p.P181L	MPPED2_ENST00000358117.5_Missense_Mutation_p.P181L|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	181					nervous system development		hydrolase activity|metal ion binding	p.P181Q(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTAAACCACGGGGTCCTTTG	0.527000													14	18					0	0	0.003163	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390336	8390336	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:8390336C>T	ENST00000471889.1	+	5	1168	c.783C>T	c.(781-783)gcC>gcT	p.A261A	SLC45A1_ENST00000377479.2_Silent_p.A295A|SLC45A1_ENST00000289877.8_Silent_p.A261A			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	261					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGAGGGCCCTGGGGGGAC	0.617000													6	44					0	0	0.003080	0	0
OR5P3	120066	broad.mit.edu	37	11	7847265	7847265	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:7847265G>A	ENST00000328375.1	-	1	254	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTCCTTAGGAAGCTCATGA	0.507000													28	31					0	0	0.005443	0	0
COL4A1	1282	broad.mit.edu	37	13	110845189	110845189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:110845189G>A	ENST00000375820.4	-	23	1574	c.1453C>T	c.(1453-1455)Ccg>Tcg	p.P485S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P485S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	485	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ATTTCTCCCGGGGGTCCCTGT	0.488000													21	48					0	0	0.003954	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351041	50351041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:50351041G>A	ENST00000376020.2	-	6	3126	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S1034L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S918L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1034					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTTCCTCTGATTTTTTCAA	0.522000													13	11					0	0	0.013537	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430903	37430903	+	Missense_Mutation	SNP	G	G	A	rs77379875		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:37430903G>A	ENST00000374660.1	+	7	1009	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E304K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E304K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACACCTAGGGAAATTACGAG	0.443000													21	17					0	0	0.012319	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932900	153932900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:153932900G>A	ENST00000368623.3	-	3	1408	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	SLC39A1_ENST00000310483.6_Missense_Mutation_p.H217Y|SLC39A1_ENST00000368621.1_Missense_Mutation_p.H217Y|SLC39A1_ENST00000537590.1_Missense_Mutation_p.H115Y|SLC39A1_ENST00000356205.4_Missense_Mutation_p.H217Y			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	217						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ATGCCCTTGTGGAGCAGCAAA	0.652000													8	30					0	0	0.003080	0	0
WFIKKN1	117166	broad.mit.edu	37	16	683960	683960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:683960G>A	ENST00000319070.2	+	2	1872	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	517	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CTGGACGCCGGCAGCTACGTC	0.687000													4	5					0	0	0.009096	0	0
CD5L	922	broad.mit.edu	37	1	157804505	157804505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:157804505C>T	ENST00000368174.4	-	4	506	c.410G>A	c.(409-411)gGt>gAt	p.G137D		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	137					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCTGACACCCTCTGGGAC	0.597000													17	25					0	0	0.004990	0	0
PAX8	7849	broad.mit.edu	37	2	113999231	113999231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:113999231G>A	ENST00000429538.3	-	7	868	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.T225M|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.T225M|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.T225M|PAX8_ENST00000263335.7_Missense_Mutation_p.T225M	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	225					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GAAGGCATCCGTGCGAAGGTG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	30					0	0	0.003080	0	0
TRANK1	9881	broad.mit.edu	37	3	36898673	36898673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:36898673G>A	ENST00000301807.6	-	12	2655	c.758C>T	c.(757-759)tCt>tTt	p.S253F	TRANK1_ENST00000429976.2_Missense_Mutation_p.S803F|TRANK1_ENST00000428977.2_Missense_Mutation_p.S253F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	803					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCTTACTAGACAGCTTCTT	0.517000													45	115					0	0	0.014410	0	0
IGSF1	3547	broad.mit.edu	37	X	130416470	130416470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:130416470C>T	ENST00000370904.1	-	13	2077	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W398*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W389*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	398	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGGTCTTCCAGGTGAGAA	0.408000													23	29					0	0	0.003330	0	0
TPTE2	93492	broad.mit.edu	37	13	20000571	20000571	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr13:20000571G>A	ENST00000400230.2	-	18	1433	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	TPTE2_ENST00000382975.4_Silent_p.F423F|TPTE2_ENST00000255310.6_Silent_p.F386F|TPTE2_ENST00000457266.2_Silent_p.F352F|TPTE2_ENST00000390680.2_Silent_p.F386F|TPTE2_ENST00000400103.2_Silent_p.F352F|TPTE2_ENST00000382977.4_Silent_p.F463F|TPTE2_ENST00000382978.1_Silent_p.F423F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	463	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCACCGAAGAGAAAAACTGCA	0.358000													4	74					0	0	0.001168	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:83400549C>T	ENST00000262752.2	-	6	445	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_ENST00000543399.1_Silent_p.G146G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000													4	13					0	0	0.000602	0	0
CCR7	1236	broad.mit.edu	37	17	38712013	38712013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:38712013C>T	ENST00000246657.2	-	3	180	c.118G>A	c.(118-120)Gac>Aac	p.D40N	CCR7_ENST00000579344.1_Missense_Mutation_p.D34N	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	40					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAAGTGTAGTCCACTGTGGTG	0.498000													5	51					0	0	0.000602	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504997	70504997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:70504997C>T	ENST00000457664.2	-	1	361	c.362G>A	c.(361-363)gGa>gAa	p.G121E	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					TAGAAGTTTTCCTAGTTCTTT	0.363000													27	40					0	0	0.006320	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869151	47869151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:47869151G>A	ENST00000289672.2	-	44	6657	c.6607C>T	c.(6607-6609)Cac>Tac	p.H2203Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2203					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAAAAAAGTGGTTGTCAGCT	0.488000													39	144					0	0	0.006999	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268535	16268535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:16268535C>T	ENST00000375733.2	-	16	2600	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G699R|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G781R			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	781	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCAGCCCCGTCGCGAGGG	0.657000													12	49					0	0	0.010729	0	0
FILIP1L	11259	broad.mit.edu	37	3	99643115	99643115	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:99643115C>T	ENST00000331335.5	-	4	1034	c.564G>A	c.(562-564)aaG>aaA	p.K188K	FILIP1L_ENST00000398326.2_Silent_p.K188K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Silent_p.K188K|CMSS1_ENST00000496116.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	188						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						ATTCATCACTCTTCTCCATGT	0.428000													7	81					0	0	0.001984	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751506	140751506	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140751506C>T	ENST00000576222.1	+	1	1676	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGAG	0.672000													10	27					0	0	0.006214	0	0
OR4M1	441670	broad.mit.edu	37	14	20249141	20249141	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:20249141C>T	ENST00000315957.4	+	1	741	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTATGCCTTCCTTCTGGCCT	0.473000													37	73					0	0	0.008740	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524938	10524938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr16:10524938C>T	ENST00000396560.2	+	3	688	c.461C>T	c.(460-462)tCc>tTc	p.S154F	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S154F|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S154F|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S154F	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GTAACAAGATCCCTTTTTGAG	0.448000													14	49					0	0	0.002450	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433746	22433746	+	RNA	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:22433746C>T	ENST00000390442.3	+	0	67																											ATGATGAAATCCTTGAGAGTT	0.348000													12	34					0	0	0.006122	0	0
IFNA16	3449	broad.mit.edu	37	9	21217122	21217122	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:21217122G>A	ENST00000380216.1	-	1	188	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	61					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTCCTGGGGGAATCCGAAAT	0.498000													29	42					0	0	0.013726	0	0
ULK3	25989	broad.mit.edu	37	15	75131034	75131034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:75131034G>A	ENST00000440863.2	-	10	1143	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	ULK3_ENST00000569437.1_Missense_Mutation_p.S351F|ULK3_ENST00000568667.1_Missense_Mutation_p.S362F	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	351						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GGCCTGATTGGAAGAGGAGAC	0.647000													7	8					0	0	0.006214	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913184	131913184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:131913184C>T	ENST00000359827.3	-	6	2611	c.1649G>A	c.(1648-1650)aGg>aAg	p.R550K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R550K			Q9HCM2	PLXA4_HUMAN	plexin A4	550	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGAGGCAAACCTGCGGGGCTC	0.607000													8	34					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55566539	55566539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:55566539G>A	ENST00000373965.2	-	36	5249	c.4855C>T	c.(4855-4857)Cct>Tct	p.P1619S	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1616S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAGGGCAAGGGGCAAATGTA	0.453000										HNSCC(58;0.16)			63	83					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	G	A	rs146496197	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:179640923G>A	ENST00000589042.1	-	28	5892	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_ENST00000342175.6_Missense_Mutation_p.R1844C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000360870.5_Missense_Mutation_p.R1890C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1605	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1844C(3)|p.R1890C(2)		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)			CCATCATAGCGAACTCTGAAC	0.498000													21	104					0	0	0.012319	0	0
WDR88	126248	broad.mit.edu	37	19	33623137	33623137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:33623137C>T	ENST00000361680.2	+	1	140	c.62C>T	c.(61-63)cCc>cTc	p.P21L	WDR88_ENST00000592765.1_Missense_Mutation_p.P21L|WDR88_ENST00000355868.3_Missense_Mutation_p.P21L			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	21										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGCCGCCACCCTCCGCCCCC	0.701000													6	30					0	0	0.001984	0	0
CD93	22918	broad.mit.edu	37	20	23065358	23065358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:23065358C>T	ENST00000246006.4	-	1	1619	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	491					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CACGGTGCTCCCTTCTTTCTC	0.632000													7	44					0	0	0.008291	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459295	92459295	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:92459295T>C	ENST00000318445.6	+	2	467	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F85L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	85					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTAGCAGCTTCGAGATCGG	0.647000													9	25					0	0	0.004482	0	0
TMEM168	64418	broad.mit.edu	37	7	112424596	112424596	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:112424596G>A	ENST00000312814.5	-	2	845	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TMEM168_ENST00000454074.1_Silent_p.S95S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	95						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACCAAAGATTGGAGAGACTTA	0.318000													19	39					0	0	0.012319	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:28542663C>T	ENST00000452236.2	-	3	2436	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	607					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATTCTTTTTCACAAACTACA	0.418000													19	25					0	0	0.006122	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350574	41350574	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:41350574T>C	ENST00000301141.5	-	8	1285	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	422					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTTCTTAAACTGCCCCTTCTC	0.557000													27	89					0	0	0.004656	0	0
SLC3A1	6519	broad.mit.edu	37	2	44528276	44528276	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:44528276G>A	ENST00000410056.3	+	6	1146	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409229.3_Intron|SLC3A1_ENST00000409380.1_Intron			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	384					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGTTGACCACGGCATATGCTC	0.512000													7	14					0	0	0.001984	0	0
VWA5A	4013	broad.mit.edu	37	11	123993680	123993680	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:123993680A>G	ENST00000456829.2	+	8	1025	c.774A>G	c.(772-774)ggA>ggG	p.G258G	VWA5A_ENST00000392744.4_Silent_p.G274G|VWA5A_ENST00000361352.5_Silent_p.G258G|VWA5A_ENST00000449321.1_Silent_p.G258G|VWA5A_ENST00000392748.1_Silent_p.G258G|VWA5A_ENST00000360334.4_Silent_p.G258G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	258										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATTTGATGGGAGATCCATCTG	0.393000													9	26					0	0	0.008291	0	0
MOG	4340	broad.mit.edu	37	6	29627428	29627428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:29627428G>A	ENST00000376894.4	+	2	539	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.E141K|MOG_ENST00000431798.2_Missense_Mutation_p.E141K|MOG_ENST00000494692.1_Missense_Mutation_p.E141K|MOG_ENST00000396701.2_Missense_Mutation_p.E141K|MOG_ENST00000376891.4_Missense_Mutation_p.E141K|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Missense_Mutation_p.E141K|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.E141K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.E141K|MOG_ENST00000376902.3_Missense_Mutation_p.E141K|MOG_ENST00000416766.2_Missense_Mutation_p.E141K			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	141	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.E141K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGCAGCAATGGAATTGAAAGT	0.438000													8	16					0	0	0.003080	0	0
ZNF366	167465	broad.mit.edu	37	5	71756238	71756238	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:71756238C>T	ENST00000318442.5	-	2	1576	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTTCTCGCGCCCACTGGCGT	0.657000													5	23					0	0	0.001168	0	0
OR4A5	81318	broad.mit.edu	37	11	51412063	51412063	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:51412063G>A	ENST00000319760.6	-	1	385	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F111L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACCAGAAGGAAGACCTCAG	0.453000													6	37					0	0	0.001168	0	0
UNC79	57578	broad.mit.edu	37	14	94048633	94048633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:94048633C>T	ENST00000553484.1	+	20	2900	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	UNC79_ENST00000256339.4_Missense_Mutation_p.P739S|UNC79_ENST00000393151.2_Missense_Mutation_p.P916S|UNC79_ENST00000555664.1_Missense_Mutation_p.P916S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	916						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGGAGAATCCTGCAAGCAA	0.572000													6	28					0	0	0.001168	0	0
SAMD9	54809	broad.mit.edu	37	7	92734749	92734749	+	Missense_Mutation	SNP	C	C	G	rs148603551		TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:92734749C>G	ENST00000379958.2	-	3	931	c.662G>C	c.(661-663)cGa>cCa	p.R221P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAGCAAATCGGAAAACCTC	0.398000													11	105					0	0	0.010729	0	0
EHHADH	1962	broad.mit.edu	37	3	184922264	184922264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:184922264G>A	ENST00000231887.3	-	6	925	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	EHHADH_ENST00000456310.1_Missense_Mutation_p.P188S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	284	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCTCCGGAGGGAGTTGACCAC	0.493000													24	58					0	0	0.003954	0	0
GNL3	26354	broad.mit.edu	37	3	52721361	52721361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:52721361G>A	ENST00000394799.2	+	3	346	c.136G>A	c.(136-138)Gag>Aag	p.E46K	GNL3_ENST00000418458.1_Missense_Mutation_p.E58K|GNL3_ENST00000460073.1_3'UTR	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	58	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TCCCTTTAAGGAGGCTCTTCT	0.428000													18	65					0	0	0.008871	0	0
TENM1	10178	broad.mit.edu	37	X	123870877	123870877	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:123870877T>C	ENST00000422452.2	-	4	769	c.706A>G	c.(706-708)Acc>Gcc	p.T236A	TENM1_ENST00000371130.3_Missense_Mutation_p.T236A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGCGTGCTGGTTGGGGGAGCT	0.562000													12	92					0	0	0.001855	0	0
GH2	2689	broad.mit.edu	37	17	61958457	61958457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:61958457G>A	ENST00000332800.7	-	3	356	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	GH2_ENST00000449787.2_Nonsense_Mutation_p.Q60*|GH2_ENST00000456543.2_Nonsense_Mutation_p.Q75*|GH2_ENST00000423893.2_Nonsense_Mutation_p.Q75*	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	75						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGGAGGTCTGGGGGTTCTGC	0.532000													13	170					0	0	0.003163	0	0
CADM4	199731	broad.mit.edu	37	19	44130962	44130962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:44130962C>T	ENST00000222374.2	-	4	521	c.473G>A	c.(472-474)tGg>tAg	p.W158*		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	158	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTCCCGGTACCAGCGCAGGGT	0.647000													26	59					0	0	0.005443	0	0
GP5	2814	broad.mit.edu	37	3	194118415	194118415	+	Silent	SNP	A	A	G			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:194118415A>G	ENST00000401815.1	-	1	668	c.597T>C	c.(595-597)ctT>ctC	p.L199L	GP5_ENST00000323007.3_Silent_p.L199L			P40197	GPV_HUMAN	glycoprotein V (platelet)	199					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGTGGAGCAGAAGTCTCTCGA	0.557000													15	36					0	0	0.002450	0	0
TNK2	10188	broad.mit.edu	37	3	195610038	195610038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:195610038G>A	ENST00000333602.6	-	5	1216	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TNK2_ENST00000316664.3_Missense_Mutation_p.P200L|TNK2_ENST00000428187.1_Missense_Mutation_p.P232L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.P200L|TNK2_ENST00000381916.2_Missense_Mutation_p.P263L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	200	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATCTTCATGGGCGGCGTGAG	0.627000													4	18					0	0	0.009096	0	0
KCNH5	27133	broad.mit.edu	37	14	63417236	63417236	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:63417236G>A	ENST00000322893.7	-	7	1252	c.984C>T	c.(982-984)ctC>ctT	p.L328L	KCNH5_ENST00000394964.2_Silent_p.L270L|KCNH5_ENST00000394968.1_Silent_p.L270L|KCNH5_ENST00000420622.2_Silent_p.L328L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	328					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCAGTCGTAAGAGACGCACCA	0.453000													16	25					0	0	0.006122	0	0
PRKCA	5578	broad.mit.edu	37	17	64299125	64299125	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:64299125C>T	ENST00000413366.3	+	1	182	c.156C>T	c.(154-156)caC>caT	p.H52H	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	52					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCTGCAGCCACTGCACCGACT	0.697000													4	64					0	0	0.000602	0	0
GJA8	2703	broad.mit.edu	37	1	147380190	147380190	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:147380190C>T	ENST00000240986.4	+	2	161	c.108C>T	c.(106-108)atC>atT	p.I36I	GJA8_ENST00000369235.1_Silent_p.I36I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	36					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGATCCTCATCCTTGGCACGG	0.587000													18	37					0	0	0.008871	0	0
SV2C	22987	broad.mit.edu	37	5	75587119	75587119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:75587119G>A	ENST00000502798.2	+	7	1653	c.1211G>A	c.(1210-1212)aGg>aAg	p.R404K	SV2C_ENST00000322285.7_Missense_Mutation_p.R404K|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	404					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACATGGTATAGGAGGTGTTTT	0.403000													4	17					0	0	0.000602	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952497	120952497	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr3:120952497G>A	ENST00000273666.6	+	12	1417	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	STXBP5L_ENST00000492541.1_Silent_p.L382L|STXBP5L_ENST00000472879.1_Silent_p.L382L|STXBP5L_ENST00000471454.1_Silent_p.L382L|STXBP5L_ENST00000497029.1_Silent_p.L382L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	382					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGTACTTCTGGAGAAAGATC	0.284000													5	18					0	0	0.001984	0	0
GJA8	2703	broad.mit.edu	37	1	147380191	147380191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:147380191C>T	ENST00000240986.4	+	2	162	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	GJA8_ENST00000369235.1_Missense_Mutation_p.L37F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	37					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCCTCATCCTTGGCACGGC	0.587000													18	37					0	0	0.008871	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696144	222696144	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:222696144C>T	ENST00000343410.6	-	9	2032	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	658					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGACAAACCCTGGGCTGGGC	0.488000													120	195					0	0	0.014410	0	0
HELLS	3070	broad.mit.edu	37	10	96333840	96333840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:96333840C>T	ENST00000348459.5	+	8	706	c.601C>T	c.(601-603)Cca>Tca	p.P201S	HELLS_ENST00000371332.4_Missense_Mutation_p.P201S|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.P201S|HELLS_ENST00000394045.1_Missense_Mutation_p.P201S|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	201					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTTTTTTGACCCAGTCCGGAA	0.398000													23	43					0	0	0.004656	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672000													5	19					0	0	0.001168	0	0
ZNF274	10782	broad.mit.edu	37	19	58718259	58718259	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:58718259C>T	ENST00000326804.4	+	5	888	c.429C>T	c.(427-429)ccC>ccT	p.P143P	ZNF274_ENST00000424679.2_Silent_p.P38P|ZNF274_ENST00000345813.3_Silent_p.P111P|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	143					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CAGATGCCCCCAGTGAGCAGG	0.607000													4	10					0	0	0.009096	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	157008	157008	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr5:157008C>T	ENST00000283426.6	+	9	1451	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	467					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGCGTCACTCCTGGAAGGGA	0.632000													6	14					0	0	0.001168	0	0
ZNF185	7739	broad.mit.edu	37	X	152100265	152100265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chrX:152100265C>T	ENST00000535861.1	+	13	1012	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	ZNF185_ENST00000370268.4_Nonsense_Mutation_p.Q322*|ZNF185_ENST00000449285.2_Nonsense_Mutation_p.Q323*|ZNF185_ENST00000318504.7_Nonsense_Mutation_p.Q263*|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000539731.1_Nonsense_Mutation_p.Q293*|ZNF185_ENST00000370270.1_Intron|ZNF185_ENST00000318529.8_Nonsense_Mutation_p.Q101*	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	322						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGAGCTCCAGAGGGACTT	0.547000													7	12					0	0	0.001984	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834404	125834404	+	Silent	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr12:125834404G>A	ENST00000299308.3	+	2	467	c.459G>A	c.(457-459)acG>acA	p.T153T	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	153						integral to membrane		p.T153T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGACCTTACGGAAGATCTAC	0.552000													20	80					0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	40735467	40735467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:40735467G>A	ENST00000373198.3	-	25	3650	c.3415C>T	c.(3415-3417)Cgt>Tgt	p.R1139C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1107C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1117C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1126C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1127C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1116C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1120C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1117	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGAGCTCACGCACGCAGTTG	0.582000													16	51					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9000207	9000207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:9000207G>A	ENST00000397910.4	-	55	40753	c.40550C>T	c.(40549-40551)cCt>cTt	p.P13517L	MUC16_ENST00000380951.5_Missense_Mutation_p.P158L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13519	SEA 10.				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						CTTGAACACAGGCCTGAGCTG	0.577000													10	24					0	0	0.013537	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215555	21215555	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:21215555C>T	ENST00000342679.4	+	10	1125	c.876C>T	c.(874-876)gaC>gaT	p.D292D	MAP2K3_ENST00000316920.6_Silent_p.D263D|MAP2K3_ENST00000361818.5_Silent_p.D263D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	292	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCCAGCCGACCGTTTCTCCC	0.642000													6	15					0	0	0.001168	0	0
UBE4A	9354	broad.mit.edu	37	11	118239488	118239488	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:118239488C>T	ENST00000252108.3	+	3	395	c.264C>T	c.(262-264)atC>atT	p.I88I	UBE4A_ENST00000431736.2_Silent_p.I88I	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	88					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)		ATCACATGATCCAAAGGATCT	0.433000													16	90					0	0	0.004990	0	0
SPTA1	6708	broad.mit.edu	37	1	158581126	158581126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:158581126C>T	ENST00000368148.3	-	52	7368	c.7188G>A	c.(7186-7188)atG>atA	p.M2396I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M2393I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2396					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)					CCCGTGGGTCCATATATTGCT	0.433000													11	44					0	0	0.001855	0	0
RIT1	6016	broad.mit.edu	37	1	155870363	155870363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:155870363G>A	ENST00000368323.3	-	6	680	c.476C>T	c.(475-477)cCc>cTc	p.P159L	RIT1_ENST00000539040.1_Missense_Mutation_p.P123L|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.P176L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	159					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCAAAAAAGGGACAGCTGAA	0.433000													11	78					0	0	0.010729	0	0
LRRC61	65999	broad.mit.edu	37	7	150034155	150034155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr7:150034155G>A	ENST00000359623.4	+	3	793	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	LRRC61_ENST00000493307.1_Missense_Mutation_p.G69S|LRRC61_ENST00000323078.7_Missense_Mutation_p.G69S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	69										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACCCACCTGGGCCCGCTGGC	0.642000													7	67					0	0	0.004482	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600559	1600559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr20:1600559G>A	ENST00000381605.4	-	1	96	c.32C>T	c.(31-33)cCt>cTt	p.P11L	SIRPB1_ENST00000381603.3_Missense_Mutation_p.P11L|SIRPB1_ENST00000568365.1_Missense_Mutation_p.P11L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Missense_Mutation_p.P11L|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P11L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	11					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAGGACTAGGAAGGTGGGG	0.572000													5	30					0	0	0.003080	0	0
CCDC178	374864	broad.mit.edu	37	18	30969504	30969504	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr18:30969504C>T	ENST00000383096.3	-	5	390	c.208_splice	c.e5+1	p.G70_splice	CCDC178_ENST00000579916.1_Splice_Site_p.G70_splice|CCDC178_ENST00000579947.1_Splice_Site_p.G70_splice|CCDC178_ENST00000406524.2_Splice_Site_p.G70_splice|CCDC178_ENST00000403303.1_Splice_Site_p.G70_splice|CCDC178_ENST00000402325.1_Splice_Site_p.G70_splice|CCDC178_ENST00000583930.1_Splice_Site_p.G70_splice|CCDC178_ENST00000300227.8_Splice_Site_p.G70_splice					coiled-coil domain containing 178																		CAGTCCTCACCTTCAGTATTT	0.284000													5	46					0	0	0.000602	0	0
PID1	55022	broad.mit.edu	37	2	229890460	229890460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:229890460G>A	ENST00000392054.3	-	4	974	c.635C>T	c.(634-636)gCc>gTc	p.A212V	PID1_ENST00000354069.6_Missense_Mutation_p.A214V|PID1_ENST00000409462.1_Missense_Mutation_p.A132V|PID1_ENST00000392055.3_Missense_Mutation_p.A181V|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	214	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCCATCATGGCGTGGGCCAG	0.572000													11	37					0	0	0.008291	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418539	105418539	+	Silent	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr14:105418539C>T	ENST00000333244.5	-	7	3368	c.3249G>A	c.(3247-3249)aaG>aaA	p.K1083K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1083						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTCCACCTTGGGCAAGT	0.622000													53	126					0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563998	176563998	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:176563998C>A	ENST00000367662.3	+	3	2422	c.1258C>A	c.(1258-1260)Cgt>Agt	p.R420S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R420S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	420					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTATTTCCGTGGACACCT	0.567000													12	70					9.31168e-06	1.95566e-05	0.001855	1	0
TRMT11	60487	broad.mit.edu	37	6	126332563	126332563	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr6:126332563C>T	ENST00000334379.5	+	9	1046	c.925_splice	c.e9+1	p.P309_splice	TRMT11_ENST00000368332.3_Splice_Site_p.P309_splice	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	309					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CATTACTGATCGTAAGTTTAT	0.328000													7	11					0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75038026	75038026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr1:75038026C>T	ENST00000326665.5	-	14	3586	c.3368G>A	c.(3367-3369)gGa>gAa	p.G1123E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1123	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCATCAGATCCCATTTCATT	0.448000													16	37					0	0	0.003163	0	0
INPP4A	3631	broad.mit.edu	37	2	99189310	99189310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr2:99189310delC	ENST00000074304.5	+	24	2959	c.2566delC	c.(2566-2568)cafs	p.P856fs	INPP4A_ENST00000409463.1_Frame_Shift_Del_p.P185fs|INPP4A_ENST00000409016.3_Frame_Shift_Del_p.P817fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.P817fs|INPP4A_ENST00000523221.1_Frame_Shift_Del_p.P856fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.P817fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.P851fs	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	856					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GACGTGCCTGCCAGAGCTGCT	0.592													2	4	---	---	---	---					
MTTP	4547	broad.mit.edu	37	4	100516025	100516025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr4:100516025delT	ENST00000457717.1	+	8	1150	c.894delT	c.(892-894)tgfs	p.C298fs	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Frame_Shift_Del_p.C298fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.C325fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	298	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAGCCACTGTAAAGGATGTC	0.433													29	64	---	---	---	---					
UBQLN1	29979	broad.mit.edu	37	9	86322554	86322554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr9:86322554delT	ENST00000376395.4	-	1	564	c.41delA	c.(40-42)cgfs	p.Q14fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.Q14fs|RP11-522I20.3_ENST00000524818.1_RNA	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	14					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GGCGCTATCCTGGGAGCCCGG	0.692													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720711	89720712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr10:89720711_89720712insA	ENST00000371953.3	+	8	2219_2220	c.862_863insA	c.(862-864)aaafs	p.K288fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	288	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.E288fs*3(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E288*(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.E288K(1)|p.E288fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAACCTCAGAAAAAGTAGAA	0.312		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			12	30	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62293194	62293205	+	In_Frame_Del	DEL	TTTTCATCTTGG	TTTTCATCTTGG	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr11:62293194_62293205delTTTTCATCTTGG	ENST00000378024.4	-	5	8958_8969	c.8684_8695delCCAAGATGAAAA	c.(8683-8697)ctg>c	p.PKMKM2895del	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2895					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)				AACTTGGGCATTTTCATCTTGGGCATCTTCAG	0.524													20	156	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													2	4	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640	byFrequency	TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr17:7606722delC	ENST00000316024.5	+	10	3913	c.1565delC	c.(1564-1566)ggfs	p.A522fs	WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	522			A -> G (in dbSNP:rs7640).		positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.A522G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582													7	86	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36215596	36215596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:36215596delT	ENST00000222270.7	+	9	3393	c.3393delT	c.(3391-3393)ccfs	p.P1131fs	WBP7_ENST00000420124.1_Frame_Shift_Del_p.P1131fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CCCTGCAGCCTGTGTTGCAGC	0.637													2	4	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52034107	52034107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29P-06A-11D-A197-08	TCGA-EE-A29P-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98b44a0e-5965-447c-bf28-ae643c4f476e	654f57e9-da2d-4b7c-9506-82e0be22cec2	g.chr19:52034107delG	ENST00000346477.3	-	3	602	c.534delC	c.(532-534)ccfs	p.P178fs	SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P178fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	178	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGAGAAGATGGGGGGCGTCC	0.662													15	56	---	---	---	---