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
PSME4	23198	broad.mit.edu	37	2	54147455	54147455	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:54147455C>A	ENST00000404125.1	-	19	2350	c.2295G>T	c.(2293-2295)ctG>ctT	p.L765L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	765					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGGATTCCCAGATTCCACA	0.443000													9	258					0.0477658	0.0503798	0.307466	1	0
MAP1B	4131	broad.mit.edu	37	5	71493770	71493770	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:71493770T>A	ENST00000296755.7	+	5	4886	c.4588T>A	c.(4588-4590)Tca>Aca	p.S1530T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1530						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)		CTCAGACAAGTCAGCTACTCC	0.463000													10	145					0	0	0.361761	0	0
HRNR	388697	broad.mit.edu	37	1	152193345	152193345	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:152193345A>G	ENST00000368801.2	-	3	835	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	254					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCCAGAGGAGTGACCTGAG	0.542000													40	764					0	0	0.853193	0	0
PSMD3	5709	broad.mit.edu	37	17	38146346	38146346	+	Splice_Site	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:38146346G>A	ENST00000264639.4	+	6	1051		c.e6-1		PSMD3_ENST00000541736.1_Splice_Site	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCACTCCCAGGGCGAATCAA	0.587000													12	121					0	0	0.435327	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363195	22363195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:22363195C>A	ENST00000263160.3	+	2	645	c.208C>A	c.(208-210)Cgc>Agc	p.R70S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	70					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTGCCCCGCCGCTACATTAT	0.632000													8	83					0.0381472	0.0403352	0.278610	1	0
LYST	1130	broad.mit.edu	37	1	235956906	235956906	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:235956906T>G	ENST00000389794.3	-	11	4187	c.4013A>C	c.(4012-4014)cAg>cCg	p.Q1338P	LYST_ENST00000536965.1_Missense_Mutation_p.Q1338P|LYST_ENST00000389793.2_Missense_Mutation_p.Q1338P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1338					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATACTCTCTGGCATGCTAA	0.338000													8	97					0	0	0.278610	0	0
TTLL7	79739	broad.mit.edu	37	1	84399357	84399357	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:84399357A>T	ENST00000260505.8	-	9	1358	c.981T>A	c.(979-981)agT>agA	p.S327R	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	327	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAAAGCAGACACTTTCGCTTC	0.418000													6	208					0	0	0.278610	0	0
DGKI	9162	broad.mit.edu	37	7	137170120	137170120	+	Splice_Site	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:137170120C>T	ENST00000453654.1	-	24	2066	c.1527_splice	c.e24+1	p.Q509_splice	DGKI_ENST00000424189.2_Splice_Site_p.Q812_splice|DGKI_ENST00000288490.5_Splice_Site_p.Q809_splice|DGKI_ENST00000446122.1_Splice_Site_p.Q791_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	809					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TATTTGTTACCTGGTAATGAA	0.348000													5	37					0	0	0.217242	0	0
MAP7	9053	broad.mit.edu	37	6	136687481	136687481	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:136687481C>G	ENST00000354570.3	-	9	1383	c.973G>C	c.(973-975)Gct>Cct	p.A325P	MAP7_ENST00000454590.1_Missense_Mutation_p.A347P|MAP7_ENST00000544465.1_Missense_Mutation_p.A310P|MAP7_ENST00000438100.2_Missense_Mutation_p.A310P|MAP7_ENST00000432797.2_Missense_Mutation_p.A179P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	325	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CGGGAGCGAGCTGGTTGTCTT	0.433000													7	120					0	0	0.307466	0	0
TENM1	10178	broad.mit.edu	37	X	124097566	124097566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:124097566G>T	ENST00000422452.2	-	1	100	c.37C>A	c.(37-39)Cca>Aca	p.P13T	TENM1_ENST00000371130.3_Missense_Mutation_p.P13T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGACTTTTGGTAGAGGCTGG	0.433000													22	376					2.89027e-11	4.78701e-11	0.624587	1	0
TLR10	81793	broad.mit.edu	37	4	38774783	38774783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:38774783C>A	ENST00000308973.4	-	4	3034	c.2429G>T	c.(2428-2430)tGt>tTt	p.C810F	TLR10_ENST00000361424.2_Missense_Mutation_p.C810F|TLR10_ENST00000506111.1_Missense_Mutation_p.C810F|TLR10_ENST00000508334.1_Missense_Mutation_p.C810F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	810					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTTTATAGACAATCTGTTCT	0.378000													10	136					7.03913e-09	1.07359e-08	0.411799	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													8	64					0	0	0.307466	0	0
SHANK1	50944	broad.mit.edu	37	19	51219652	51219652	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:51219652A>G	ENST00000293441.1	-	2	357	c.339T>C	c.(337-339)gaT>gaC	p.D113D	SHANK1_ENST00000359082.3_Silent_p.D113D|SHANK1_ENST00000391814.1_Silent_p.D113D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	113					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTTGAGCACATCCTGCAGGC	0.612000													6	119					0	0	0.217242	0	0
ALMS1	7840	broad.mit.edu	37	2	73679094	73679094	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:73679094G>A	ENST00000264448.6	+	8	5548	c.5437G>A	c.(5437-5439)Gtt>Att	p.V1813I	ALMS1_ENST00000409009.1_Missense_Mutation_p.V1771I|ALMS1_ENST00000377715.1_Missense_Mutation_p.V1813I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1813	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGCCCATTGTTTCCTACCA	0.463000													10	363					0	0	0.361761	0	0
PCDH17	27253	broad.mit.edu	37	13	58298893	58298893	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:58298893T>C	ENST00000377918.3	+	4	2971	c.2945T>C	c.(2944-2946)gTt>gCt	p.V982A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	982					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGCTAATGTTGAGACTGAG	0.438000													5	112					0	0	0.184627	0	0
GPR156	165829	broad.mit.edu	37	3	119886715	119886715	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:119886715G>T	ENST00000464295.1	-	10	2054	c.1609C>A	c.(1609-1611)Cgg>Agg	p.R537R	GPR156_ENST00000315843.3_Silent_p.R537R|GPR156_ENST00000461057.1_Silent_p.R533R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	537						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CGTGACCGCCGCTCTGGGGGC	0.597000													32	459					2.20474e-14	3.83118e-14	0.788014	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587497	43587497	+	RNA	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:43587497T>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							ttgaacctggtaagtggaggt	0.483000													3	18					0	0	0.115264	0	0
ZNF438	220929	broad.mit.edu	37	10	31134354	31134354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:31134354C>A	ENST00000538351.1	-	8	2630	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	ZNF438_ENST00000452305.1_Nonsense_Mutation_p.E665*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.E239*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.E675*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.E665*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.E665*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.E675*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.E675*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.E675*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGCCTGCCCTCAATTTCCTCT	0.468000													8	246					2.17888e-05	2.79953e-05	0.335167	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	53					3.59834e-05	4.59547e-05	0.217242	1	0
ATRX	546	broad.mit.edu	37	X	76939420	76939420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:76939420G>T	ENST00000373344.5	-	9	1542	c.1328C>A	c.(1327-1329)gCa>gAa	p.A443E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A405E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	443					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTTTTCGTGCTTTTGTTTC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	371					1.58986e-06	2.18156e-06	0.361761	1	0
MBTPS2	51360	broad.mit.edu	37	X	21887738	21887738	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:21887738C>T	ENST00000365779.2	+	7	993	c.912C>T	c.(910-912)ccC>ccT	p.P304P	MBTPS2_ENST00000379484.5_Silent_p.P304P			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	304	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCTATGAGCCCCAAATTGGTT	0.398000													11	205					0	0	0.411799	0	0
BAGE2	85319	broad.mit.edu	37	21	11038784	11038784	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr21:11038784C>A	ENST00000470054.1	-	0	1419									B melanoma antigen family, member 2															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)		GCTGGTTTACCCATGCCAGTT	0.408000													6	301					0.00116845	0.00138773	0.217242	1	0
GFAP	2670	broad.mit.edu	37	17	42992452	42992452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:42992452C>A	ENST00000253408.5	-	1	468	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A135S|GFAP_ENST00000435360.2_Missense_Mutation_p.A135S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	135	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCCAGCCGGGCGCTGTTGGCG	0.652000													6	91					0.00116845	0.00138773	0.217242	1	0
RSBN1	54665	broad.mit.edu	37	1	114354882	114354882	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:114354882C>A	ENST00000261441.5	-	1	216	c.153G>T	c.(151-153)gcG>gcT	p.A51A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	51						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCGACCTGCGCAGCCATTT	0.687000													22	279					1.04121e-07	1.52759e-07	0.693898	1	0
GABRG2	2566	broad.mit.edu	37	5	161520952	161520952	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:161520952G>A	ENST00000356592.3	+	2	686	c.226G>A	c.(226-228)Gga>Aga	p.G76R	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.G76R|GABRG2_ENST00000361925.4_Missense_Mutation_p.G76R	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	76					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTGCTGGAAGGATATGACAA	0.373000													5	221					0	0	0.217242	0	0
PTPRT	11122	broad.mit.edu	37	20	40739110	40739110	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr20:40739110G>T	ENST00000373198.3	-	24	3418	c.3183C>A	c.(3181-3183)atC>atA	p.I1061I	PTPRT_ENST00000373184.1_Silent_p.I1049I|PTPRT_ENST00000373190.1_Silent_p.I1038I|PTPRT_ENST00000373187.1_Silent_p.I1039I|PTPRT_ENST00000373193.3_Silent_p.I1042I|PTPRT_ENST00000356100.2_Silent_p.I1048I|PTPRT_ENST00000373201.1_Silent_p.I1029I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1039	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)				GGAGCTCCCGGATCTCATGGT	0.607000													4	115					0.150653	0.156179	0.150653	1	0
ARPC5	10092	broad.mit.edu	37	1	183596670	183596670	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:183596670C>T	ENST00000359856.6	-	4	519	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000294742.6_Silent_p.V154V|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	151					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TGCCAGACTACACAGTTTTTC	0.458000													14	356					0	0	0.500413	0	0
AMER1	139285	broad.mit.edu	37	X	63411911	63411911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:63411911G>T	ENST00000330258.3	-	2	1528	c.1256C>A	c.(1255-1257)cCc>cAc	p.P419H	AMER1_ENST00000403336.1_Missense_Mutation_p.P419H|AMER1_ENST00000374869.3_Missense_Mutation_p.P419H	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GTTCATATTGGGCCGTGGATA	0.522000													10	161					2.17888e-05	2.79953e-05	0.335167	1	0
TRIO	7204	broad.mit.edu	37	5	14463026	14463026	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:14463026G>A	ENST00000344204.4	+	36	5683	c.5659G>A	c.(5659-5661)Gat>Aat	p.D1887N	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.D1887N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1887					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACTCACAGGATGACAAGGT	0.647000													5	89					0	0	0.184627	0	0
SNW1	22938	broad.mit.edu	37	14	78184788	78184788	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:78184788T>C	ENST00000261531.7	-	13	1396	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.Q445R|SNW1_ENST00000554775.1_Missense_Mutation_p.Q283R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	445					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATAAATACTCTGGGCCATATC	0.418000													8	130					0	0	0.278610	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121864	90121864	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:90121864C>A	ENST00000483379.1	+	0	263																											CCAGATGACCCAGTCTCCATC	0.438000													30	441					1.30988e-24	2.35334e-24	0.750413	1	0
AMHR2	269	broad.mit.edu	37	12	53819286	53819286	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:53819286G>A	ENST00000257863.4	+	5	630	c.550G>A	c.(550-552)Gag>Aag	p.E184K	AMHR2_ENST00000550311.1_Missense_Mutation_p.E184K|AMHR2_ENST00000379791.3_Missense_Mutation_p.E184K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	184					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCAGTGCCAGAGCCAAGGCC	0.592000													10	132					0	0	0.361761	0	0
UTRN	7402	broad.mit.edu	37	6	144795842	144795842	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:144795842G>T	ENST00000367545.3	+	24	3283	c.3283G>T	c.(3283-3285)Gtg>Ttg	p.V1095L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1095					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAAACTTGGGTGCAGACAAG	0.373000													9	141					0.000442599	0.000537714	0.335167	1	0
FAM49B	51571	broad.mit.edu	37	8	130867918	130867918	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:130867918T>A	ENST00000519824.2	-	6	650	c.377A>T	c.(376-378)cAg>cTg	p.Q126L	FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000519110.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000517654.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000519540.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000401979.2_Missense_Mutation_p.Q126L|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.Q126L	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	126										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AGCAAGAGCCTGCTCTCGCTC	0.398000													4	130					0	0	0.150653	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558493	140558493	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:140558493T>C	ENST00000239444.2	+	1	1123	c.878T>C	c.(877-879)tTt>tCt	p.F293S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		293	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAAAACTTTTAAGGTCGAT	0.408000													10	368					0	0	0.361761	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969364	140969364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:140969364G>T	ENST00000298296.1	+	4	691	c.691G>T	c.(691-693)Gag>Tag	p.E231*	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGCCCGTGAGTTCATAGA	0.443000													14	376					9.31168e-06	1.24156e-05	0.435327	1	0
WNK3	65267	broad.mit.edu	37	X	54263729	54263729	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:54263729C>T	ENST00000354646.2	-	20	4708	c.4270G>A	c.(4270-4272)Gca>Aca	p.A1424T	WNK3_ENST00000375159.2_Missense_Mutation_p.A1424T|WNK3_ENST00000375169.3_Missense_Mutation_p.A1377T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1377					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCACAAGCTGCGCTGAAAGAT	0.403000													4	110					0	0	0.150653	0	0
POLA1	5422	broad.mit.edu	37	X	24948614	24948614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:24948614C>A	ENST00000379068.3	+	36	4252	c.4209C>A	c.(4207-4209)taC>taA	p.Y1403*	POLA1_ENST00000379059.3_Nonsense_Mutation_p.Y1397*			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1397					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTTACCGGTACATTTTTGATG	0.403000													7	93					0.00307968	0.00355799	0.278610	1	0
IGSF10	285313	broad.mit.edu	37	3	151163918	151163918	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:151163918G>A	ENST00000282466.3	-	4	3850	c.3851C>T	c.(3850-3852)cCa>cTa	p.P1284L		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	1284					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)			CTTCTTTGTTGGAAGACTTCC	0.423000													11	220					0	0	0.361761	0	0
PANK1	53354	broad.mit.edu	37	10	91353634	91353634	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:91353634C>A	ENST00000307534.4	-	4	1578	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	PANK1_ENST00000371774.2_Missense_Mutation_p.V277L|PANK1_ENST00000342512.3_Missense_Mutation_p.V250L|PANK1_ENST00000322191.6_Intron	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	475					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	ATGTCCTTCACCAGTTTATCA	0.443000													10	368					1.08611e-07	1.57709e-07	0.387290	1	0
ZNF831	128611	broad.mit.edu	37	20	57766108	57766108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr20:57766108C>A	ENST00000371030.2	+	1	34	c.34C>A	c.(34-36)Cct>Act	p.P12T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	12	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTGCCCCTCCTGCGAGGGA	0.637000													8	108					1.06961e-07	1.55847e-07	0.278610	1	0
WISP2	8839	broad.mit.edu	37	20	43355750	43355750	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr20:43355750C>G	ENST00000372865.4	+	3	816	c.308C>G	c.(307-309)tCt>tGt	p.S103C	WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.V185V|WISP2_ENST00000372868.2_Silent_p.V185V			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	98	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGGCCTTGTCTCTTCCCTGC	0.647000													9	195					0	0	0.361761	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518346	27518346	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:27518346C>A	ENST00000356183.4	-	9	1389	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	GTF3C1_ENST00000561623.1_Silent_p.L458L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCATAGACGCCAGGCTCACGG	0.597000													5	96					0.217242	0.22142	0.217242	1	0
L1CAM	3897	broad.mit.edu	37	X	153129866	153129866	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153129866C>A	ENST00000370060.1	-	25	3422	c.3233G>T	c.(3232-3234)tGg>tTg	p.W1078L	L1CAM_ENST00000370057.3_Missense_Mutation_p.W1078L|L1CAM_ENST00000543994.1_Missense_Mutation_p.W1080L|L1CAM_ENST00000361981.3_Missense_Mutation_p.W1073L|L1CAM_ENST00000361699.4_Missense_Mutation_p.W1078L|L1CAM_ENST00000538883.1_Missense_Mutation_p.W1080L|L1CAM_ENST00000370055.1_Missense_Mutation_p.W1073L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1078	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGGTCCCACTGCGTGTA	0.577000													18	375					1.96292e-10	3.18881e-10	0.592651	1	0
OR4C12	283093	broad.mit.edu	37	11	50003969	50003969	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:50003969T>A	ENST00000335238.4	-	1	102	c.69A>T	c.(67-69)aaA>aaT	p.K23N		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CAAACGTGACTTTCTCCATTA	0.413000													9	125					0	0	0.335167	0	0
CPNE8	144402	broad.mit.edu	37	12	39079407	39079407	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:39079407G>T	ENST00000331366.5	-	16	1252	c.1156C>A	c.(1156-1158)Caa>Aaa	p.Q386K	CPNE8_ENST00000360449.3_Missense_Mutation_p.Q374K|CPNE8_ENST00000538596.2_Missense_Mutation_p.Q55K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	386	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TAGGGGTTTTGAGGATTCCCA	0.378000													11	167					7.03913e-09	1.07359e-08	0.411799	1	0
CREB3L3	84699	broad.mit.edu	37	19	4171661	4171661	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:4171661A>T	ENST00000078445.2	+	10	1228	c.1081A>T	c.(1081-1083)Aga>Tga	p.R361*	CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R360*|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R359*|CREB3L3_ENST00000252587.3_Silent_p.P249P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.Q325L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	361					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGTTCTCCAGAACTTTGCA	0.642000													15	255					0	0	0.500413	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047002	55047002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:55047002G>T	ENST00000335056.3	+	4	585	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CTTTTCCATGGGTCCTGTAAC	0.537000													16	133					0.146539	0.153036	0.500413	1	0
SPNS1	83985	broad.mit.edu	37	16	28995230	28995230	+	Missense_Mutation	SNP	G	G	A	rs138506930		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:28995230G>A	ENST00000311008.11	+	11	1821	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A430T|SPNS1_ENST00000323081.8_Missense_Mutation_p.A409T|SPNS1_ENST00000565975.1_Missense_Mutation_p.A527T|SPNS1_ENST00000352260.7_Missense_Mutation_p.A408T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	482					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTGGGCACCGCCATCTTCAT	0.652000													10	170					0	0	0.361761	0	0
TRPV3	162514	broad.mit.edu	37	17	3424291	3424291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:3424291C>A	ENST00000301365.4	-	14	1917	c.1786G>T	c.(1786-1788)Gtg>Ttg	p.V596L	TRPV3_ENST00000576742.1_Missense_Mutation_p.V596L|TRPV3_ENST00000572519.1_Missense_Mutation_p.V596L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	596						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCAAAAACACGATATATACA	0.328000													5	85					4.096e-09	6.38494e-09	0.217242	1	0
SMOC1	64093	broad.mit.edu	37	14	70477560	70477560	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:70477560G>T	ENST00000381280.4	+	8	1007	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	SMOC1_ENST00000361956.3_Missense_Mutation_p.A252S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	252	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCCTGAATGTGCCCCTGGGGG	0.592000													14	222					7.93312e-07	1.11379e-06	0.457914	1	0
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:17728564G>T	ENST00000428389.2	-	42	4768	c.4769C>A	c.(4768-4770)aCg>aAg	p.T1590K	UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502K|UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607000													14	225					1.5842e-08	2.39039e-08	0.435327	1	0
MUC17	140453	broad.mit.edu	37	7	100676134	100676134	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:100676134C>T	ENST00000306151.4	+	3	1501	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	479	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAAAACTCAGG	0.488000													52	806					0	0	0.870114	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858788	149858788	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:149858788C>T	ENST00000331380.2	+	1	264	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	88					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCTGGCCATCCGCAACGACG	0.602000													6	258					0	0	0.248553	0	0
C8orf33	65265	broad.mit.edu	37	8	146278688	146278688	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:146278688C>A	ENST00000331434.6	+	4	523	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	137										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CGCAGAAGAGCAGGCTATTGG	0.522000													6	297					5.68852e-11	9.38496e-11	0.307466	1	0
TRPM1	4308	broad.mit.edu	37	15	31324990	31324990	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:31324990T>C	ENST00000542188.1	-	21	3218	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V	TRPM1_ENST00000397795.2_Missense_Mutation_p.I930V|TRPM1_ENST00000256552.6_Missense_Mutation_p.I952V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	930					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACACAGTAGATCACCCGGCCA	0.483000													8	157					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617770	77617770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:77617770G>C	ENST00000521891.2	+	2	1895	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D483H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D483H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D483H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAATGAACTTGATGACGAGGA	0.433000										HNSCC(33;0.089)			3	59					0	0	0.115264	0	0
PARP14	54625	broad.mit.edu	37	3	122422688	122422688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:122422688G>A	ENST00000474629.2	+	7	3447	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1061	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCTCCAGGAGGAATTGGACAC	0.532000													5	141					0	0	0.184627	0	0
LACE1	246269	broad.mit.edu	37	6	108843559	108843559	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:108843559C>T	ENST00000368977.4	+	13	1563	c.1377C>T	c.(1375-1377)cgC>cgT	p.R459R		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	459							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CATTTCAGCGCACAATTTCCC	0.388000													5	104					0	0	0.217242	0	0
DHX38	9785	broad.mit.edu	37	16	72133735	72133735	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:72133735G>T	ENST00000268482.3	+	8	1574	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	355					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCAGCACCTGCATAAACAGA	0.567000											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					1.23904e-05	1.63661e-05	0.184627	1	0
SHROOM2	357	broad.mit.edu	37	X	9905204	9905204	+	Silent	SNP	G	G	T	rs150051019		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:9905204G>T	ENST00000380913.3	+	7	3708	c.3618G>T	c.(3616-3618)acG>acT	p.T1206T	SHROOM2_ENST00000418909.2_Silent_p.T41T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1206					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACAACACCACGGTGAAGATGG	0.597000													3	22					6.4e-05	8.07797e-05	0.115264	1	0
DHCR7	1717	broad.mit.edu	37	11	71152274	71152274	+	Splice_Site	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:71152274A>T	ENST00000355527.3	-	6	901	c.626_splice	c.e6+1	p.C209_splice	DHCR7_ENST00000407721.2_Splice_Site_p.C209_splice	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGAACATACCAGTCTCTGGCG	0.572000									Smith-Lemli-Opitz syndrome				5	126					0	0	0.248553	0	0
CARD6	84674	broad.mit.edu	37	5	40843362	40843362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:40843362C>T	ENST00000254691.5	+	2	591	c.392C>T	c.(391-393)aCa>aTa	p.T131I	CARD6_ENST00000381677.3_Missense_Mutation_p.T131I	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	131					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTGAGATCACAGTGTTCTTC	0.428000													7	117					0	0	0.248553	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018847	245018847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:245018847C>A	ENST00000444376.2	-	12	2408	c.2174G>T	c.(2173-2175)gGa>gTa	p.G725V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G744V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	744	Gly-rich.|RNA-binding RGG-box.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ACCACTTCCTCCACCGCCACC	0.507000													16	167					0.00498961	0.00567183	0.520397	1	0
OR4S2	219431	broad.mit.edu	37	11	55418853	55418853	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:55418853G>T	ENST00000312422.2	+	1	474	c.474G>T	c.(472-474)gtG>gtT	p.V158V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTATCCAAGTGGCTCTGGTAG	0.433000													10	389					4.68919e-08	6.95181e-08	0.361761	1	0
PROL1	58503	broad.mit.edu	37	4	71275371	71275371	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:71275371T>C	ENST00000399575.2	+	3	500	c.326T>C	c.(325-327)cTa>cCa	p.L109P	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	109	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATTTCCCACTAAGACCTTAC	0.403000													11	385					0	0	0.387290	0	0
DCAF8	50717	broad.mit.edu	37	1	160213786	160213786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:160213786C>A	ENST00000368073.3	-	3	447	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.G159W|DCAF8_ENST00000368074.1_Missense_Mutation_p.G5W|DCAF8_ENST00000326837.2_Missense_Mutation_p.G5W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	5						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTGCTGCTCCCTTTGCTGGAC	0.458000													6	313					5.18039e-06	6.9509e-06	0.278610	1	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	524					0	0	0.184627	0	0
GABRA3	2556	broad.mit.edu	37	X	151358389	151358389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:151358389G>T	ENST00000370314.4	-	9	1194	c.956C>A	c.(955-957)aCc>aAc	p.T319N	GABRA3_ENST00000535043.1_Missense_Mutation_p.T319N|GABRA3_ENST00000370311.1_Missense_Mutation_p.T319N|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	319					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCAAGGTGGTCATGGTAAG	0.448000													5	97					0.0293803	0.0312997	0.248553	1	0
NDRG1	10397	broad.mit.edu	37	8	134274312	134274312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:134274312C>A	ENST00000414097.2	-	5	1171	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.G36C|NDRG1_ENST00000537882.1_Missense_Mutation_p.G21C|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G102C|NDRG1_ENST00000354944.5_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	102					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGGCTGCGCCGTCCTGCTGG	0.602000			T	ERG	prostate								9	191					4.68919e-08	6.95181e-08	0.361761	1	0
TRPM8	79054	broad.mit.edu	37	2	234851343	234851343	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:234851343G>T	ENST00000324695.4	+	6	690	c.650G>T	c.(649-651)tGg>tTg	p.W217L	TRPM8_ENST00000409625.1_Missense_Mutation_p.W140L|TRPM8_ENST00000355722.4_Missense_Mutation_p.W167L|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	217						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATAGCAGCTTGGGGCATGGTC	0.532000													5	191					0.00116845	0.00138773	0.217242	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395904	101395904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:101395904G>T	ENST00000372774.3	-	3	649	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	TCEAL6_ENST00000372773.1_Missense_Mutation_p.L134M	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCACTGCTCAGATGCCTTTCC	0.498000													16	213					1.56452e-12	2.64286e-12	0.557998	1	0
CUBN	8029	broad.mit.edu	37	10	16930566	16930566	+	Splice_Site	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:16930566C>T	ENST00000377833.4	-	56	8821		c.e56-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCACATCCTATGTGGGAA	0.358000													17	196					0	0	0.592651	0	0
BBS10	79738	broad.mit.edu	37	12	76741438	76741438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:76741438C>A	ENST00000393262.3	-	2	410	c.327G>T	c.(325-327)atG>atT	p.M109I		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	109					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGTTTTCACACATCAAAGGAT	0.373000									Bardet-Biedl syndrome				10	175					4.36969e-10	7.01799e-10	0.435327	1	0
OR4C11	219429	broad.mit.edu	37	11	55371392	55371392	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:55371392T>A	ENST00000302231.4	-	1	482	c.458A>T	c.(457-459)cAc>cTc	p.H153L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGCTGTAGAGTGTATTAAAGA	0.463000													5	157					0	0	0.184627	0	0
USP28	57646	broad.mit.edu	37	11	113704163	113704163	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:113704163G>C	ENST00000003302.4	-	7	806	c.738C>G	c.(736-738)ttC>ttG	p.F246L	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Missense_Mutation_p.F246L|USP28_ENST00000537706.1_Missense_Mutation_p.F246L|USP28_ENST00000545540.1_Missense_Mutation_p.F121L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	246					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGATGATCGGAATGCTCCCT	0.418000													6	212					0	0	0.217242	0	0
OR4C13	283092	broad.mit.edu	37	11	49974148	49974148	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:49974148C>G	ENST00000555099.1	+	1	206	c.174C>G	c.(172-174)taC>taG	p.Y58*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	58					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						CCCCCATGTACTTTTTCCTGG	0.423000													16	420					0	0	0.575678	0	0
TOP3A	7156	broad.mit.edu	37	17	18188778	18188778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:18188778C>A	ENST00000321105.5	-	14	1868	c.1654G>T	c.(1654-1656)Ggc>Tgc	p.G552C	TOP3A_ENST00000542570.1_Missense_Mutation_p.G457C|TOP3A_ENST00000540524.1_Missense_Mutation_p.G82C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	552					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGTGAGGCCCACGTACATC	0.582000													7	84					0.000274275	0.000336106	0.307466	1	0
STK11	6794	broad.mit.edu	37	19	1220649	1220649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:1220649G>T	ENST00000326873.7	+	5	1840	c.667G>T	c.(667-669)Gag>Tag	p.E223*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	223	Protein kinase.		E -> V (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.E223*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCGCCCGAGATTGCCAA	0.697000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	50					0.0215528	0.0234317	0.217242	1	0
HCFC1	3054	broad.mit.edu	37	X	153222928	153222928	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153222928G>T	ENST00000310441.7	-	13	3156	c.2190C>A	c.(2188-2190)ggC>ggA	p.G730G	HCFC1_ENST00000354233.3_Silent_p.G661G|HCFC1_ENST00000369984.4_Silent_p.G730G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	730					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGGCTTGCCATCTGCTG	0.637000													6	205					5.9392e-07	8.45041e-07	0.217242	1	0
RANBP6	26953	broad.mit.edu	37	9	6015088	6015088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:6015088C>A	ENST00000259569.5	-	1	530	c.520G>T	c.(520-522)Gag>Tag	p.E174*	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	174					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATGCCGCTCTTGGGTCCCA	0.433000													4	92					0.0215528	0.0234317	0.217242	1	0
TCN1	6947	broad.mit.edu	37	11	59629097	59629097	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:59629097G>T	ENST00000257264.3	-	4	563	c.459C>A	c.(457-459)gcC>gcA	p.A153A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	153					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)	ACAGACACAAGGCCAAAACGT	0.443000													22	218					1.10923e-09	1.76148e-09	0.639603	1	0
FAN1	22909	broad.mit.edu	37	15	31206216	31206216	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:31206216A>T	ENST00000362065.4	+	5	2024	c.1733A>T	c.(1732-1734)aAc>aTc	p.N578I		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	578					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGTTGGTCAACCTCGGCCGA	0.468000								Direct reversal of damage					6	129					0	0	0.248553	0	0
KCNA4	3739	broad.mit.edu	37	11	30033415	30033415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:30033415C>T	ENST00000328224.6	-	2	2044	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	271						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCTCGTCCTCCCGAAACTTC	0.517000													6	172					0	0	0.217242	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342281	60342281	+	RNA	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:60342281T>A	ENST00000581291.1	-	0	1872																				breast(2)|kidney(1)|lung(2)	5						TAATACATTCTCATAAGTTTA	0.488000													12	175					0	0	0.387290	0	0
ZFX	7543	broad.mit.edu	37	X	24229383	24229383	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:24229383C>G	ENST00000379177.1	+	11	2735	c.2308C>G	c.(2308-2310)Cac>Gac	p.H770D	ZFX_ENST00000539115.1_Missense_Mutation_p.H541D|ZFX_ENST00000379188.3_Missense_Mutation_p.H770D|ZFX_ENST00000338565.3_Missense_Mutation_p.H720D|ZFX_ENST00000304543.5_Missense_Mutation_p.H770D|ZFX_ENST00000540034.1_Missense_Mutation_p.H809D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TATTTCCATTCACACGAAAGA	0.448000													19	293					0	0	0.539581	0	0
CACNA1D	776	broad.mit.edu	37	3	53699686	53699686	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:53699686G>T	ENST00000288139.3	+	6	884		c.e6-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTCTTTCCTAGGTTTACAAGT	0.353000													10	175					4.68919e-08	6.95181e-08	0.361761	1	0
DNAH9	1770	broad.mit.edu	37	17	11592915	11592915	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:11592915A>G	ENST00000262442.3	+	20	3844	c.3776A>G	c.(3775-3777)gAt>gGt	p.D1259G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1259G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1259	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGCTGGATGCCAGGCAC	0.483000													6	237					0	0	0.217242	0	0
DCLK1	9201	broad.mit.edu	37	13	36401848	36401848	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:36401848T>G	ENST00000255448.4	-	10	1542	c.1331A>C	c.(1330-1332)aAg>aCg	p.K444T	DCLK1_ENST00000360631.3_Missense_Mutation_p.K444T|DCLK1_ENST00000379893.1_Missense_Mutation_p.K137T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	444	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATTGGGATGCTTCACTCTTCT	0.383000													6	180					0	0	0.217242	0	0
PCDH15	65217	broad.mit.edu	37	10	55582432	55582432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:55582432G>T	ENST00000361849.3	-	34	5454	c.5060C>A	c.(5059-5061)tCa>tAa	p.S1687*	PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S1662*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S1645*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.S1685*|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S1682*|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S1616*	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1685					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)				ATTAGGTTCTGATTTGAGTTC	0.433000										HNSCC(58;0.16)			5	160					0.217242	0.22142	0.217242	1	0
OR4F6	390648	broad.mit.edu	37	15	102346217	102346217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:102346217G>T	ENST00000328882.4	+	1	316	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGGCTGTGTAGTTCAGATCTT	0.453000													12	379					7.03913e-09	1.07359e-08	0.411799	1	0
VIPR2	7434	broad.mit.edu	37	7	158827313	158827313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:158827313G>T	ENST00000262178.2	-	9	1023	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	VIPR2_ENST00000402066.1_Missense_Mutation_p.P421T|VIPR2_ENST00000377633.3_Missense_Mutation_p.P264T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	280					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ACCCACCAGGGCACACTGTGG	0.478000													6	81					3.09899e-07	4.46928e-07	0.307466	1	0
TNS3	64759	broad.mit.edu	37	7	47342631	47342631	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:47342631T>A	ENST00000398879.1	-	22	3740	c.3374A>T	c.(3373-3375)cAc>cTc	p.H1125L	TNS3_ENST00000355730.3_Missense_Mutation_p.H885L|TNS3_ENST00000311160.9_Missense_Mutation_p.H1125L			Q68CZ2	TENS3_HUMAN	tensin 3	1125						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTCCCGCTGTGCGGGCTGGA	0.622000													4	165					0	0	0.150653	0	0
HPR	3250	broad.mit.edu	37	16	72110738	72110738	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:72110738C>G	ENST00000540303.2	+	5	837	c.805C>G	c.(805-807)Cct>Gct	p.P269A	HPR_ENST00000228226.8_Missense_Mutation_p.P306A|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.P269A	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	269	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ACCGAAGAGCCCTGTAGGGGT	0.532000													9	165					0	0	0.387290	0	0
PINX1	54984	broad.mit.edu	37	8	10623272	10623272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:10623272C>A	ENST00000314787.3	-	7	745	c.626G>T	c.(625-627)cGt>cTt	p.R209L	SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000426190.2_3'UTR	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CCCCCTTTTACGTTCCACCTG	0.522000													14	441					1.49906e-05	1.96781e-05	0.457914	1	0
PDE6C	5146	broad.mit.edu	37	10	95399926	95399926	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:95399926C>G	ENST00000371447.3	+	12	1720	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	528					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGAATACGACTGTTTTTTGA	0.423000													12	208					0	0	0.387290	0	0
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													4	317					0	0	0.278610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564301	176564301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:176564301G>T	ENST00000367662.3	+	3	2725	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.G521*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	521	Metalloprotease.				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						GCCCCTTCGGGGAGAGAAGGT	0.537000													9	91					0.000442599	0.000537714	0.335167	1	0
OR4L1	122742	broad.mit.edu	37	14	20528678	20528678	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:20528678C>A	ENST00000315683.1	+	1	475	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTCCATAAGCCAGATAGTTTT	0.393000													14	254					0.0285812	0.0309934	0.500413	1	0
TRBV19	28568	broad.mit.edu	37	7	142326854	142326854	+	RNA	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:142326854T>C	ENST00000390393.3	+	0	360																											CACGATGCCATGTACTGGTAC	0.473000													18	337					0	0	0.557998	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966915	41966915	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:41966915C>T	ENST00000298919.7	+	10	1942	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A	PDZRN4_ENST00000539469.2_Silent_p.A520A|PDZRN4_ENST00000402685.2_Silent_p.A778A			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	778							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATGGCAGCCACCCAGTCCT	0.512000													12	294					0	0	0.435327	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994823	140994823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:140994823C>G	ENST00000285879.4	+	4	1919	c.1633C>G	c.(1633-1635)Cct>Gct	p.P545A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	545							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGTCTCCTCACTACTT	0.562000										HNSCC(15;0.026)			41	790					0	0	0.853193	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	92					0	0	0.150653	0	0
LPHN2	23266	broad.mit.edu	37	1	82434975	82434975	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:82434975A>G	ENST00000370728.1	+	17	3270	c.2625A>G	c.(2623-2625)ctA>ctG	p.L875L	LPHN2_ENST00000370721.1_Silent_p.L800L|LPHN2_ENST00000319517.6_Silent_p.L862L|LPHN2_ENST00000370715.1_Silent_p.L862L|LPHN2_ENST00000370723.1_Silent_p.L862L|LPHN2_ENST00000370725.1_Silent_p.L875L|LPHN2_ENST00000394879.1_Silent_p.L862L|LPHN2_ENST00000359929.3_Silent_p.L862L|LPHN2_ENST00000335786.5_Silent_p.L875L|LPHN2_ENST00000370730.1_Silent_p.L875L|LPHN2_ENST00000370717.2_Silent_p.L875L|LPHN2_ENST00000271029.4_Silent_p.L875L|LPHN2_ENST00000370713.1_Silent_p.L862L|LPHN2_ENST00000370727.1_Silent_p.L875L|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	875					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)		TCCGTGGCCTACAGAGTGACC	0.388000													14	287					0	0	0.500413	0	0
CPSF3	51692	broad.mit.edu	37	2	9593040	9593040	+	Splice_Site	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:9593040A>G	ENST00000460593.1	+	12	2422		c.e12-1		CPSF3_ENST00000238112.3_Splice_Site			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTTTTTTACAGGTTATGGGA	0.333000													5	63					0	0	0.217242	0	0
GP6	51206	broad.mit.edu	37	19	55530019	55530019	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:55530019C>A	ENST00000310373.3	-	6	752		c.e6+1		CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Splice_Site|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000417454.1_Splice_Site	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGGTTACTCACCAGTTGTGAA	0.463000													12	142					2.61681e-11	4.36823e-11	0.457914	1	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:88123744G>T	ENST00000327946.7	-	2	274	c.189C>A	c.(187-189)tcC>tcA	p.S63S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)			7	155					1.06961e-07	1.55847e-07	0.278610	1	0
OR2G2	81470	broad.mit.edu	37	1	247752595	247752595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:247752595C>A	ENST00000320065.1	+	1	934	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			AGCAAAGGCTCTGGGAGtaaa	0.323000													8	120					1.12685e-05	1.49308e-05	0.307466	1	0
KDM5B	10765	broad.mit.edu	37	1	202699041	202699041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:202699041G>A	ENST00000367265.3	-	26	5455	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1431					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTGGGGGTCCGCATTTTCTTA	0.463000													5	313					0	0	0.184627	0	0
MYH2	4620	broad.mit.edu	37	17	10436617	10436617	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:10436617C>T	ENST00000245503.5	-	21	2810	c.2426G>A	c.(2425-2427)aGg>aAg	p.R809K	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R809K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	809	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCACCATCCTCTGGTACTC	0.453000													8	224					0	0	0.361761	0	0
ATOH7	220202	broad.mit.edu	37	10	69991035	69991035	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:69991035C>T	ENST00000373673.3	-	1	836	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	134					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CTGTACAGCTCGCTCTCGCCC	0.711000													5	55					0	0	0.217242	0	0
FAM199X	139231	broad.mit.edu	37	X	103431140	103431140	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:103431140G>T	ENST00000493442.1	+	4	733		c.e4-1		FAM199X_ENST00000299906.5_Splice_Site	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCATCACATAGGTGGAATATA	0.328000													5	125					0.014758	0.016169	0.184627	1	0
NEB	4703	broad.mit.edu	37	2	152467042	152467042	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:152467042G>A	ENST00000427231.2	-	80	12208	c.12006C>T	c.(12004-12006)gaC>gaT	p.D4002D	NEB_ENST00000409198.1_Silent_p.D3759D|NEB_ENST00000172853.10_Silent_p.D3759D|NEB_ENST00000603639.1_Silent_p.D4002D|NEB_ENST00000604864.1_Silent_p.D4002D|NEB_ENST00000397345.3_Silent_p.D4002D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4001					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTGGCGATGTCCCTGGAGG	0.483000													15	191					0	0	0.457914	0	0
KCNA4	3739	broad.mit.edu	37	11	30032904	30032904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:30032904G>T	ENST00000328224.6	-	2	2555	c.1322C>A	c.(1321-1323)gCc>gAc	p.A441D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	441						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCTGAGGATGGCAAAGGACAT	0.562000													11	158					6.31663e-08	9.29948e-08	0.479597	1	0
ZNF12	7559	broad.mit.edu	37	7	6730890	6730890	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:6730890C>T	ENST00000405858.1	-	5	2224	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	ZNF12_ENST00000404360.1_Missense_Mutation_p.M487I|ZNF12_ENST00000342651.5_Missense_Mutation_p.M523I|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	561					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAGGTATGACATCTGAGAGA	0.408000													4	76					0	0	0.150653	0	0
IDS	3423	broad.mit.edu	37	X	148568579	148568579	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:148568579C>T	ENST00000340855.6	-	8	1266	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	IDS_ENST00000541269.1_Missense_Mutation_p.V142I|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000537071.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	353						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGGTAGCAACATCAAAATTG	0.448000													9	143					0	0	0.361761	0	0
STAM	8027	broad.mit.edu	37	10	17750775	17750775	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:17750775G>T	ENST00000377524.3	+	13	1425	c.1209_splice	c.e13-1	p.V404_splice	STAM_ENST00000540523.1_Splice_Site_p.V293_splice	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	404					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCATCGCAGGTGTATGCAGG	0.448000													7	126					8.12818e-05	0.000101963	0.248553	1	0
OR10J3	441911	broad.mit.edu	37	1	159283825	159283825	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:159283825C>T	ENST00000332217.5	-	1	624	c.625G>A	c.(625-627)Gtt>Att	p.V209I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATAGGTAGAACAAGGACACAG	0.488000													6	211					0	0	0.217242	0	0
OR4S2	219431	broad.mit.edu	37	11	55418854	55418854	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:55418854G>T	ENST00000312422.2	+	1	475	c.475G>T	c.(475-477)Gct>Tct	p.A159S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATCCAAGTGGCTCTGGTAGT	0.428000													10	384					2.80697e-09	4.39172e-09	0.387290	1	0
TRIM69	140691	broad.mit.edu	37	15	45047475	45047475	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:45047475A>G	ENST00000559390.1	+	3	1312	c.384A>G	c.(382-384)ccA>ccG	p.P128P	TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Silent_p.P128P|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	128	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCAGTAAACCAGATGGGAAAC	0.473000													8	146					0	0	0.307466	0	0
OR2T11	127077	broad.mit.edu	37	1	248789973	248789973	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:248789973C>A	ENST00000330803.2	-	1	518	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAGAAAGCCATCGAGGGAG	0.527000													8	66					0.00307968	0.00355799	0.278610	1	0
GLI3	2737	broad.mit.edu	37	7	42007403	42007403	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:42007403A>T	ENST00000395925.3	-	14	2306	c.2222T>A	c.(2221-2223)cTc>cAc	p.L741H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	741					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGGCACTGAGGTCTCCTAT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				13	222					0	0	0.411799	0	0
S1PR2	9294	broad.mit.edu	37	19	10334604	10334604	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:10334604C>A	ENST00000590320.1	-	2	1088	c.978G>T	c.(976-978)ctG>ctT	p.L326L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	326					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCGGAGTGGCAGGAGGTGGT	0.721000													6	55					0.00198382	0.00232359	0.248553	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834799	94834799	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:94834799C>A	ENST00000371531.1	+	3	849	c.471C>A	c.(469-471)atC>atA	p.I157I	CYP26A1_ENST00000224356.4_Silent_p.I226I|CYP26A1_ENST00000394139.1_Silent_p.I157I	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	226					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCTGCCCATCGACGTGCCCT	0.682000													29	204					3.70037e-05	4.71159e-05	0.740014	1	0
FLG2	388698	broad.mit.edu	37	1	152323159	152323159	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:152323159C>T	ENST00000388718.5	-	3	7175	c.7103G>A	c.(7102-7104)aGa>aAa	p.R2368K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2368							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGCTTTTTCTGCTGCCACC	0.448000													20	225					0	0	0.592651	0	0
OVOL1	5017	broad.mit.edu	37	11	65561549	65561549	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:65561549T>A	ENST00000532448.1	+	0	370				OVOL1_ENST00000531907.1_3'UTR|OVOL1_ENST00000335987.3_Missense_Mutation_p.S50T			O14753	OVOL1_HUMAN	ovo-like zinc finger 1						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCCGGAACCCTCTGTGGCCGA	0.652000													15	172					0	0	0.500413	0	0
PLOD1	5351	broad.mit.edu	37	1	12025546	12025546	+	Missense_Mutation	SNP	A	A	G	rs144007935		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:12025546A>G	ENST00000196061.4	+	14	1507	c.1480A>G	c.(1480-1482)Atg>Gtg	p.M494V	PLOD1_ENST00000376369.3_Missense_Mutation_p.M541V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	494					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGATGTGTTCATGTTCCTGAC	0.657000													18	147					0	0	0.520397	0	0
FLNA	2316	broad.mit.edu	37	X	153596104	153596104	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153596104G>T	ENST00000422373.1	-	4	873	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	FLNA_ENST00000344736.4_Missense_Mutation_p.L209M|FLNA_ENST00000360319.4_Missense_Mutation_p.L209M|FLNA_ENST00000369850.3_Missense_Mutation_p.L209M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	209	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGGACACAGGCCTGTGGCG	0.672000													12	225					4.36969e-10	7.01799e-10	0.435327	1	0
OR5D18	219438	broad.mit.edu	37	11	55587946	55587946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:55587946G>T	ENST00000333976.4	+	1	861	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTTTACACCGTGGTGATCCC	0.473000													9	136					0.00448238	0.00512272	0.307466	1	0
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622000													5	349					0	0	0.278610	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587526	43587526	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:43587526C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							gccgagatcgcgtcattgcac	0.488000													3	28					0	0	0.150653	0	0
NAV1	89796	broad.mit.edu	37	1	201618284	201618284	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:201618284C>T	ENST00000367296.4	+	1	908	c.488C>T	c.(487-489)cCg>cTg	p.P163L	NAV1_ENST00000367297.4_Missense_Mutation_p.P163L|NAV1_ENST00000367300.3_Missense_Mutation_p.P163L|NAV1_ENST00000295624.6_Missense_Mutation_p.P163L|NAV1_ENST00000367302.1_Missense_Mutation_p.P176L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	163					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCTGGCTCCGCTCGCGCCC	0.682000													4	60					0	0	0.184627	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837589	12837589	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:12837589G>T	ENST00000357726.4	+	3	1326	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	433										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAACTTGGGGCTGAGCTGA	0.567000													17	258					4.7546e-09	7.33073e-09	0.500413	1	0
NFATC1	4772	broad.mit.edu	37	18	77246650	77246650	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr18:77246650G>C	ENST00000329101.4	+	9	2512	c.2456G>C	c.(2455-2457)aGt>aCt	p.S819T	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.S360T|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.S832T|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000397790.2_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	832	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTCCAAGCAGTAGCTGCCCC	0.731000													4	42					0	0	0.184627	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725295	106725295	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:106725295C>A	ENST00000390609.2	-	0	335																											GATGGTGAACCGGCCCTTCAC	0.547000													39	1058					2.81731e-10	4.55932e-10	0.750413	1	0
OPRL1	4987	broad.mit.edu	37	20	62729936	62729936	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr20:62729936C>T	ENST00000349451.3	+	6	1309	c.897C>T	c.(895-897)gcC>gcT	p.A299A	OPRL1_ENST00000336866.2_Silent_p.A299A|OPRL1_ENST00000355631.4_Silent_p.A299A	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	299					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTGCCGTGGCCATTCTGCGCT	0.627000													12	121					0	0	0.411799	0	0
SLC25A5	292	broad.mit.edu	37	X	118604441	118604441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:118604441G>A	ENST00000317881.8	+	3	820	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	235					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACACTGTTCGCCGCCGCATG	0.517000													5	144					0	0	0.184627	0	0
TRPM1	4308	broad.mit.edu	37	15	31324991	31324991	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:31324991C>T	ENST00000542188.1	-	21	3217	c.2904G>A	c.(2902-2904)gtG>gtA	p.V968V	TRPM1_ENST00000397795.2_Silent_p.V929V|TRPM1_ENST00000256552.6_Silent_p.V951V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	929					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACAGTAGATCACCCGGCCAT	0.483000													9	154					0	0	0.387290	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566762	20566762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:20566762G>T	ENST00000329697.6	-	4	593	c.425C>A	c.(424-426)tCc>tAc	p.S142Y	ACSM2B_ENST00000565322.1_Missense_Mutation_p.S63Y|ACSM2B_ENST00000414188.2_Missense_Mutation_p.S142Y|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S142Y|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S142Y	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	142					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TATGTCAGTGGATTTCATCTG	0.438000													5	141					0.014758	0.016169	0.184627	1	0
SEMA5A	9037	broad.mit.edu	37	5	9238003	9238003	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:9238003C>A	ENST00000382496.5	-	6	936		c.e6-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCCACAGCCTGTAGAAAAC	0.393000													5	119					0.0215528	0.0234317	0.217242	1	0
PIRT	644139	broad.mit.edu	37	17	10728617	10728617	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:10728617T>C	ENST00000580256.1	-	2	984	c.346A>G	c.(346-348)Aag>Gag	p.K116E		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	116						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TTCTGTTTCTTTTTGATGATG	0.532000													8	153					0	0	0.307466	0	0
CD163L1	283316	broad.mit.edu	37	12	7510056	7510056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:7510056C>A	ENST00000313599.3	-	19	4363	c.4306G>T	c.(4306-4308)Gat>Tat	p.D1436Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1404Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1446Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1436						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCGCTAGCATCTTCACAACCA	0.448000													4	86					0.014758	0.016169	0.184627	1	0
PLCB2	5330	broad.mit.edu	37	15	40590523	40590523	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:40590523G>A	ENST00000260402.3	-	11	1305	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PLCB2_ENST00000557821.1_Silent_p.G352G|PLCB2_ENST00000456256.2_Silent_p.G352G	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	352	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGCAACGGCAGCCAGAGAGCA	0.592000													5	148					0	0	0.248553	0	0
C1orf110	339512	broad.mit.edu	37	1	162825463	162825463	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:162825463C>T	ENST00000367912.1	-	3	444	c.270G>A	c.(268-270)caG>caA	p.Q90Q	C1orf110_ENST00000367910.1_Silent_p.Q91Q|C1orf110_ENST00000367911.2_Silent_p.Q86Q|C1orf110_ENST00000524691.1_5'UTR			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	91										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCTGCCTTCCCTGTGGTGAGA	0.418000													5	66					0	0	0.217242	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505008	151505008	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:151505008C>T	ENST00000317605.4	+	1	1932	c.827C>T	c.(826-828)aCg>aTg	p.T276M	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	276					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CACATGAAGACGCTGCTGCTG	0.622000													5	162					0	0	0.217242	0	0
ALPP	250	broad.mit.edu	37	2	233244495	233244495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:233244495C>T	ENST00000392027.2	+	5	775	c.506C>T	c.(505-507)aCc>aTc	p.T169I	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	169						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGAGTGGTAACCACCACACGA	0.652000													7	118					0	0	0.248553	0	0
OR51M1	390059	broad.mit.edu	37	11	5411021	5411021	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:5411021C>A	ENST00000328611.3	+	1	415	c.393C>A	c.(391-393)tcC>tcA	p.S131S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	131						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGATGTCCTTTGACCGCC	0.502000													20	476					3.65163e-15	6.37157e-15	0.706142	1	0
ZNF248	57209	broad.mit.edu	37	10	38127039	38127039	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:38127039C>A	ENST00000395867.3	-	4	566	c.15_splice	c.e4-1	p.E6_splice	ZNF248_ENST00000357328.4_Splice_Site_p.E6_splice|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Splice_Site_p.E6_splice	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GACACTTGTTCCTGTAATAGT	0.368000													9	187					2.17888e-05	2.79953e-05	0.335167	1	0
ASB15	142685	broad.mit.edu	37	7	123257754	123257754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:123257754C>A	ENST00000451558.1	+	9	935	c.414C>A	c.(412-414)aaC>aaA	p.N138K	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.N138K|ASB15_ENST00000275699.3_Missense_Mutation_p.N138K|ASB15_ENST00000434204.1_Missense_Mutation_p.N138K|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.N138K			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	138					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGTGGCCCAACACAAAAAATG	0.363000													9	106					9.70103e-10	1.54633e-09	0.361761	1	0
DSG1	1828	broad.mit.edu	37	18	28919787	28919787	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr18:28919787C>G	ENST00000257192.4	+	11	1698	c.1486C>G	c.(1486-1488)Ccg>Gcg	p.P496A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	496	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAATACAGAGCCGAACACTAA	0.348000													8	153					0	0	0.278610	0	0
LGR6	59352	broad.mit.edu	37	1	202270345	202270345	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:202270345T>A	ENST00000367278.3	+	9	1000	c.911T>A	c.(910-912)cTg>cAg	p.L304Q	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.L252Q|LGR6_ENST00000439764.2_Missense_Mutation_p.L165Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	304						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTCCAGTACCTGCCTAAACTC	0.498000													10	75					0	0	0.361761	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825788	135825788	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:135825788G>C	ENST00000250617.6	-	5	1822	c.617C>G	c.(616-618)aCa>aGa	p.T206R	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T52R|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T52R|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T52R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	206	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAACCAGCCTGTTCTCCCATT	0.413000													21	278					0	0	0.639603	0	0
OPRL1	4987	broad.mit.edu	37	20	62729935	62729935	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr20:62729935C>A	ENST00000349451.3	+	6	1308	c.896C>A	c.(895-897)gCc>gAc	p.A299D	OPRL1_ENST00000336866.2_Missense_Mutation_p.A299D|OPRL1_ENST00000355631.4_Missense_Mutation_p.A299D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	299					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ACTGCCGTGGCCATTCTGCGC	0.632000													10	118					2.17888e-05	2.79953e-05	0.335167	1	0
GRIK1	2897	broad.mit.edu	37	21	31027160	31027160	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr21:31027160G>T	ENST00000399914.1	-	5	1271	c.750C>A	c.(748-750)acC>acA	p.T250T	GRIK1_ENST00000399913.1_Silent_p.T250T|GRIK1_ENST00000535441.1_Silent_p.T250T|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Silent_p.T250T|GRIK1_ENST00000309434.7_Silent_p.T250T|GRIK1_ENST00000399909.1_Silent_p.T250T|GRIK1_ENST00000327783.4_Silent_p.T250T|GRIK1_ENST00000389124.2_Silent_p.T250T|GRIK1_ENST00000399907.1_Silent_p.T250T			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	250					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATAGTACTCGGTCATCATGC	0.403000													16	304					1.99824e-07	2.89165e-07	0.520397	1	0
SLC17A6	57084	broad.mit.edu	37	11	22363194	22363194	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:22363194C>A	ENST00000263160.3	+	2	644	c.207C>A	c.(205-207)cgC>cgA	p.R69R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	69					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCCTGCCCCGCCGCTACATTA	0.627000													7	85					0.0293803	0.0312997	0.248553	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900580	151900580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:151900580G>T	ENST00000393900.3	-	3	574	c.221C>A	c.(220-222)aCc>aAc	p.T74N	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.T74N|MAGEA12_ENST00000357916.4_Missense_Mutation_p.T74N	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	74										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGTTGATGGTAGTGGGGAG	0.577000													9	260					9.70103e-10	1.54633e-09	0.361761	1	0
TRBV7-6	28592	broad.mit.edu	37	7	142139495	142139495	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:142139495G>C	ENST00000390374.3	-	0	174																											CCCGAAATTGGATCACACCTG	0.493000													7	142					0	0	0.307466	0	0
KCNA4	3739	broad.mit.edu	37	11	30032903	30032903	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:30032903G>T	ENST00000328224.6	-	2	2556	c.1323C>A	c.(1321-1323)gcC>gcA	p.A441A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	441						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTCTGAGGATGGCAAAGGACA	0.557000													10	160					6.31663e-08	9.29948e-08	0.479597	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944820	43944820	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:43944820C>A	ENST00000389420.3	-	2	344	c.345G>T	c.(343-345)ggG>ggT	p.G115G	ADAMTS20_ENST00000553158.1_Silent_p.G115G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	115						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCCCAGGCCCCGCGCTCCG	0.657000													6	65					0.0293803	0.0312997	0.248553	1	0
IQUB	154865	broad.mit.edu	37	7	123101555	123101555	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:123101555G>T	ENST00000466202.1	-	11	2439	c.1863C>A	c.(1861-1863)cgC>cgA	p.R621R	IQUB_ENST00000324698.6_Silent_p.R621R			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	621										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCGGTATATGCGGCGTGAGG	0.378000													5	109					0.00116845	0.00138773	0.217242	1	0
FN1	2335	broad.mit.edu	37	2	216289837	216289837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:216289837C>T	ENST00000354785.4	-	7	1385	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	FN1_ENST00000336916.4_Missense_Mutation_p.G339E|FN1_ENST00000443816.1_Missense_Mutation_p.G339E|FN1_ENST00000432072.2_Missense_Mutation_p.G339E|FN1_ENST00000421182.1_Missense_Mutation_p.G339E|FN1_ENST00000359671.1_Missense_Mutation_p.G339E|FN1_ENST00000357867.4_Missense_Mutation_p.G339E|FN1_ENST00000356005.4_Missense_Mutation_p.G339E|FN1_ENST00000346544.3_Missense_Mutation_p.G339E|FN1_ENST00000345488.5_Missense_Mutation_p.G339E|FN1_ENST00000357009.2_Missense_Mutation_p.G339E|FN1_ENST00000446046.1_Missense_Mutation_p.G339E|FN1_ENST00000323926.6_Missense_Mutation_p.G339E|FN1_ENST00000426059.1_Missense_Mutation_p.G339E			P02751	FINC_HUMAN	fibronectin 1	339	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGCTGACTCCGTTGCCCAG	0.433000													6	563					0	0	0.278610	0	0
L1CAM	3897	broad.mit.edu	37	X	153133883	153133883	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153133883C>T	ENST00000370060.1	-	14	1766	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	L1CAM_ENST00000370057.3_Missense_Mutation_p.S526N|L1CAM_ENST00000543994.1_Missense_Mutation_p.S528N|L1CAM_ENST00000361981.3_Missense_Mutation_p.S521N|L1CAM_ENST00000361699.4_Missense_Mutation_p.S526N|L1CAM_ENST00000538883.1_Missense_Mutation_p.S528N|L1CAM_ENST00000370055.1_Missense_Mutation_p.S521N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	526	Ig-like C2-type 6.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGATTGTGCTGCGGGGCCC	0.617000													11	435					0	0	0.361761	0	0
DAAM2	23500	broad.mit.edu	37	6	39869751	39869751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:39869751C>T	ENST00000538976.1	+	25	3324	c.3142C>T	c.(3142-3144)Cga>Tga	p.R1048*	DAAM2_ENST00000274867.4_Nonsense_Mutation_p.R1049*|DAAM2_ENST00000398904.2_Nonsense_Mutation_p.R1049*	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1049	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCCGCAAGCGATCAGGGAG	0.612000													4	113					0	0	0.150653	0	0
GINS3	64785	broad.mit.edu	37	16	58438632	58438632	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:58438632G>A	ENST00000318129.5	+	3	858	c.650G>A	c.(649-651)tGa>tAa	p.*217*	GINS3_ENST00000328514.7_Silent_p.*139*|GINS3_ENST00000426538.2_Silent_p.*256*	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	0					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ATGGAAGACTGAAAGCCGGAA	0.473000													3	41					0	0	0.115264	0	0
ACSL6	23305	broad.mit.edu	37	5	131303676	131303676	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:131303676T>C	ENST00000379264.2	-	16	1661	c.1553A>G	c.(1552-1554)gAt>gGt	p.D518G	ACSL6_ENST00000379246.1_Missense_Mutation_p.D504G|ACSL6_ENST00000296869.4_Missense_Mutation_p.D518G|ACSL6_ENST00000431707.1_Missense_Mutation_p.D473G|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000543479.1_Missense_Mutation_p.D493G|ACSL6_ENST00000379272.2_Missense_Mutation_p.D508G|ACSL6_ENST00000379240.1_Missense_Mutation_p.D493G|ACSL6_ENST00000379255.1_Missense_Mutation_p.D418G|ACSL6_ENST00000379249.3_Missense_Mutation_p.D493G|ACSL6_ENST00000357096.1_Missense_Mutation_p.D418G|ACSL6_ENST00000379244.1_Missense_Mutation_p.D493G|ACSL6_ENST00000544770.1_Missense_Mutation_p.D402G	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	493					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCAACATCAACGAGCTT	0.483000													14	264					0	0	0.539581	0	0
OR1L8	138881	broad.mit.edu	37	9	125330487	125330487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:125330487C>A	ENST00000304865.2	-	1	351	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATGGTCTTCTTTTCTGACA	0.458000													8	114					2.17888e-05	2.79953e-05	0.335167	1	0
MYEOV2	150678	broad.mit.edu	37	2	241069342	241069342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:241069342C>A	ENST00000307266.3	-	4	366	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCCGACACCACAGGCCGCTCT	0.612000													9	171					2.17888e-05	2.79953e-05	0.335167	1	0
ABCB1	5243	broad.mit.edu	37	7	87178745	87178745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:87178745G>T	ENST00000265724.3	-	15	2061	c.1644C>A	c.(1642-1644)aaC>aaA	p.N548K	ABCB1_ENST00000543898.1_Missense_Mutation_p.N484K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	548	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGATCTTGGGGTTGCGAACCA	0.557000													7	145					0.000442599	0.000537714	0.335167	1	0
ATG13	9776	broad.mit.edu	37	11	46693848	46693848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:46693848G>A	ENST00000434074.1	+	17	2209	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	ATG13_ENST00000524625.1_Missense_Mutation_p.R470H|ATG13_ENST00000526508.1_Missense_Mutation_p.R507H|ATG13_ENST00000451945.1_Missense_Mutation_p.R470H|ATG13_ENST00000530500.1_Missense_Mutation_p.R391H|ATG13_ENST00000528494.1_Missense_Mutation_p.R540H|ATG13_ENST00000312040.4_Missense_Mutation_p.R507H|ATG13_ENST00000529655.1_Missense_Mutation_p.R470H|ATG13_ENST00000359513.4_Missense_Mutation_p.R507H	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	507					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AAGAATGTCCGCGAGTTTGAT	0.542000													7	273					0	0	0.278610	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532404	84532404	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:84532404G>C	ENST00000527857.1	+	0	2426					NR_026851.1																						ATCTTCAGACGAGGATCTGAG	0.448000													6	125					0	0	0.248553	0	0
KCNS2	3788	broad.mit.edu	37	8	99440791	99440791	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:99440791T>C	ENST00000287042.4	+	2	934	c.584T>C	c.(583-585)cTg>cCg	p.L195P	KCNS2_ENST00000521839.1_Missense_Mutation_p.L195P	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	195						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTGTCCATCCTGGTGGTGATG	0.612000													4	139					0	0	0.150653	0	0
CCKAR	886	broad.mit.edu	37	4	26487448	26487448	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:26487448G>A	ENST00000295589.3	-	3	631	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGACTGTAAGGGTTTGCAAAT	0.468000													4	59					0	0	0.150653	0	0
C4orf21	55345	broad.mit.edu	37	4	113539658	113539658	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:113539658T>C	ENST00000505019.1	-	6	1665	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	C4orf21_ENST00000445203.2_Missense_Mutation_p.N483D|C4orf21_ENST00000309071.5_Missense_Mutation_p.N514D	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	514										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAATACTATTAAGACTTTCA	0.323000													8	134					0	0	0.307466	0	0
TRIM36	55521	broad.mit.edu	37	5	114499262	114499262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:114499262C>T	ENST00000513154.1	-	2	541	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R84Q			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	84						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)		GGAGGGGAGCCGAAGTCGAGG	0.443000													9	164					0	0	0.361761	0	0
RGS6	9628	broad.mit.edu	37	14	73029134	73029134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:73029134C>A	ENST00000553530.1	+	17	1585	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	RGS6_ENST00000343854.6_Missense_Mutation_p.L441M|RGS6_ENST00000553525.1_Missense_Mutation_p.L478M|RGS6_ENST00000556437.1_Missense_Mutation_p.L478M|RGS6_ENST00000555571.1_Missense_Mutation_p.L460M|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000554782.1_Intron|RGS6_ENST00000402788.2_Missense_Mutation_p.L460M	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	460					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGGAAAGTCGCTGGCGGGCAA	0.652000													9	162					1.76689e-08	2.65661e-08	0.335167	1	0
ADAM12	8038	broad.mit.edu	37	10	127806660	127806660	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:127806660T>A	ENST00000368679.4	-	6	868	c.559A>T	c.(559-561)Aac>Tac	p.N187Y	ADAM12_ENST00000368676.4_Missense_Mutation_p.N187Y	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	187					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCAGCGAGGTTTGGTGTGTTG	0.473000													10	292					0	0	0.361761	0	0
DDI1	414301	broad.mit.edu	37	11	103907619	103907619	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:103907619C>A	ENST00000302259.3	+	1	312	c.69C>A	c.(67-69)ccC>ccA	p.P23P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	23	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGGTCAGCCCCGACTTTGAGC	0.632000													41	361					3.76604e-16	6.65333e-16	0.853193	1	0
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:154574475C>A	ENST00000368474.4	-	2	842	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522000													6	211					0.00198382	0.00232359	0.248553	1	0
GLRA4	441509	broad.mit.edu	37	X	102977173	102977173	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:102977173G>A	ENST00000372617.4	-	6	1045	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	209						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGACAGCAGGAGCATCTTCC	0.527000													30	544					0	0	0.760397	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133942	21133942	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:21133942C>A	ENST00000215727.5	+	2	625	c.342C>A	c.(340-342)ctC>ctA	p.L114L	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L114L|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	114					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GGAACATCCTCCAGCTTTTTC	0.502000													4	133					0.014758	0.016169	0.184627	1	0
KCNA4	3739	broad.mit.edu	37	11	30032868	30032868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:30032868C>A	ENST00000328224.6	-	2	2591	c.1358G>T	c.(1357-1359)cGg>cTg	p.R453L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	453						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTTGAAGATCCGGAATACTCG	0.582000													9	155					3.07112e-06	4.18699e-06	0.387290	1	0
ALPK3	57538	broad.mit.edu	37	15	85411391	85411391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:85411391G>A	ENST00000258888.5	+	14	5595	c.5428G>A	c.(5428-5430)Gcc>Acc	p.A1810T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1810	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGACCGGTTCGCCTCCTCCCA	0.622000													14	437					0	0	0.520397	0	0
ASIC3	9311	broad.mit.edu	37	7	150748969	150748969	+	Silent	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:150748969T>C	ENST00000357922.4	+	7	1881	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	ASIC3_ENST00000349064.5_Silent_p.Y429Y|ASIC3_ENST00000297512.8_Silent_p.Y429Y	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	429					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGGCCTATGAGATGTCAG	0.587000													6	170					0	0	0.307466	0	0
DRP2	1821	broad.mit.edu	37	X	100496819	100496819	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:100496819A>T	ENST00000395209.3	+	7	1249	c.722A>T	c.(721-723)gAg>gTg	p.E241V	DRP2_ENST00000541709.1_Missense_Mutation_p.E163V|DRP2_ENST00000538510.1_Missense_Mutation_p.E241V|DRP2_ENST00000402866.1_Missense_Mutation_p.E241V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	241					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGGGCAATGGAGGAACTAAGC	0.562000													5	48					0	0	0.184627	0	0
OPN4	94233	broad.mit.edu	37	10	88418262	88418262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:88418262G>T	ENST00000372071.2	+	5	706	c.479G>T	c.(478-480)tGt>tTt	p.C160F	OPN4_ENST00000241891.5_Missense_Mutation_p.C149F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	149					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.C160Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TATGCCTTCTGTGGAGCTCTC	0.617000													7	89					0.000157383	0.000196266	0.278610	1	0
MED12	9968	broad.mit.edu	37	X	70345919	70345919	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:70345919G>T	ENST00000333646.6	+	18	2655	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	MED12_ENST00000374102.1_Missense_Mutation_p.R819L|MED12_ENST00000374080.3_Missense_Mutation_p.R819L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	819					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGACGCAACCGGCCTGAAGCC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						26	351					1.33986e-20	2.38698e-20	0.681144	1	0
OR13C4	138804	broad.mit.edu	37	9	107288781	107288781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:107288781G>T	ENST00000277216.3	-	1	709	c.710C>A	c.(709-711)gCa>gAa	p.A237E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAAAATGCCTTGTGTCT	0.433000													9	206					0.00829132	0.00937472	0.361761	1	0
OR4K14	122740	broad.mit.edu	37	14	20482527	20482527	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:20482527A>G	ENST00000305045.2	-	1	825	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAATGGTATAAAACACAGAC	0.433000													7	106					0	0	0.248553	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													6	120					0	0	0.217242	0	0
CACNA1B	774	broad.mit.edu	37	9	140952657	140952657	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:140952657G>A	ENST00000277549.5	+	29	4420	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CACNA1B_ENST00000371363.1_Silent_p.E1421E|CACNA1B_ENST00000277551.2_Silent_p.E1421E|CACNA1B_ENST00000371355.4_Silent_p.E1422E|CACNA1B_ENST00000371357.1_Silent_p.E1422E|CACNA1B_ENST00000371372.1_Silent_p.E1421E			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1421					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)	CCTTCCAGGAGCAGGGGGACA	0.537000													23	284					0	0	0.654019	0	0
RAP2C	57826	broad.mit.edu	37	X	131351115	131351115	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:131351115G>C	ENST00000342983.2	-	2	928	c.182C>G	c.(181-183)aCt>aGt	p.T61S	RAP2C_ENST00000370874.1_Missense_Mutation_p.T61S|RAP2C_ENST00000460462.1_5'UTR	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	61					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AAACTGCTCAGTTCCTGCGGT	0.453000													11	262					0	0	0.387290	0	0
PCDH9	5101	broad.mit.edu	37	13	67801313	67801313	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:67801313C>T	ENST00000544246.1	-	2	1951	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L	PCDH9_ENST00000328454.5_Silent_p.L420L|PCDH9_ENST00000377861.3_Silent_p.L420L|PCDH9_ENST00000456367.1_Silent_p.L420L|PCDH9_ENST00000377865.2_Silent_p.L420L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	420	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTCTCTAACAAATATTGGT	0.403000													4	135					0	0	0.150653	0	0
LINC01205	401082	broad.mit.edu	37	3	109128846	109128846	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:109128846C>T	ENST00000497996.1	+	0	10																											CAGTAGAGGGCGCACTCTTGT	0.517000													7	38					0	0	0.307466	0	0
COL4A6	1288	broad.mit.edu	37	X	107414632	107414632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:107414632C>T	ENST00000334504.7	-	33	3495	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	COL4A6_ENST00000545689.1_Missense_Mutation_p.E1088K|COL4A6_ENST00000538570.1_Missense_Mutation_p.E1088K|COL4A6_ENST00000372216.4_Missense_Mutation_p.E1089K|COL4A6_ENST00000394872.2_Missense_Mutation_p.E1089K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1089	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						AAACCAGATTCGCCAGGCTGT	0.458000									Alport syndrome with Diffuse Leiomyomatosis				9	125					0	0	0.411799	0	0
EIF3E	3646	broad.mit.edu	37	8	109215340	109215340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:109215340C>A	ENST00000220849.5	-	12	1233	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	EIF3E_ENST00000519030.1_Missense_Mutation_p.V298L	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	391	PCI.|Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCCATAACCACATGACCCTAA	0.378000													10	168					1.5842e-08	2.39039e-08	0.435327	1	0
USP19	10869	broad.mit.edu	37	3	49152399	49152399	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:49152399G>C	ENST00000453664.1	-	14	2456	c.2138C>G	c.(2137-2139)cCc>cGc	p.P713R	USP19_ENST00000398888.2_Missense_Mutation_p.P622R|USP19_ENST00000398892.3_Missense_Mutation_p.P662R|USP19_ENST00000398898.2_Missense_Mutation_p.P662R|USP19_ENST00000398896.1_Missense_Mutation_p.P430R|USP19_ENST00000417901.1_Missense_Mutation_p.P725R|USP19_ENST00000434032.2_Missense_Mutation_p.P723R	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	622					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCTCATCGGGCCGCCCATC	0.582000													5	191					0	0	0.217242	0	0
TRRAP	8295	broad.mit.edu	37	7	98557093	98557093	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:98557093G>T	ENST00000359863.4	+	44	6657	c.6448G>T	c.(6448-6450)Gac>Tac	p.D2150Y	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2132Y|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2131Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2150	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGTGGTTCGACAAGCTGCT	0.612000													4	120					3.59834e-05	4.59547e-05	0.217242	1	0
FAT3	120114	broad.mit.edu	37	11	92531937	92531937	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:92531937T>A	ENST00000298047.6	+	9	5775	c.5758T>A	c.(5758-5760)Tac>Aac	p.Y1920N	FAT3_ENST00000409404.2_Missense_Mutation_p.Y1920N|FAT3_ENST00000525166.1_Missense_Mutation_p.Y1770N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAACTGACATACAGCCTAAT	0.418000										TCGA Ovarian(4;0.039)			5	76					0	0	0.184627	0	0
DCLK1	9201	broad.mit.edu	37	13	36699947	36699947	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:36699947T>C	ENST00000255448.4	-	2	539	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	DCLK1_ENST00000379892.4_Missense_Mutation_p.T110A|DCLK1_ENST00000360631.3_Missense_Mutation_p.T110A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	110	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCATCAATGGTGTAGATTGTT	0.542000													4	121					0	0	0.184627	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	71					0	0	0.150653	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889937	23889937	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:23889937G>A	ENST00000532292.1	-	1	1238	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGCTCCCTGGGCTTTCAGAG	0.642000													8	90					0	0	0.278610	0	0
PXDN	7837	broad.mit.edu	37	2	1651960	1651960	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:1651960G>T	ENST00000252804.4	-	17	3642	c.3592C>A	c.(3592-3594)Cgg>Agg	p.R1198R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1198			R -> Q (in dbSNP:rs6723697).		extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTTTCTCCCGGATCTCAGGG	0.517000													22	347					2.89027e-11	4.78701e-11	0.624587	1	0
ANKRD11	29123	broad.mit.edu	37	16	89341284	89341284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:89341284G>T	ENST00000301030.4	-	11	8111	c.7651C>A	c.(7651-7653)Cca>Aca	p.P2551T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2551T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2551						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAATGGCACTGCCTGG	0.612000													12	139					1.61879e-10	2.65007e-10	0.411799	1	0
RHOQ	23433	broad.mit.edu	37	2	46770308	46770308	+	Silent	SNP	C	C	T	rs146259491		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:46770308C>T	ENST00000238738.4	+	1	442	c.123C>T	c.(121-123)acC>acT	p.T41T	RHOQ_ENST00000465198.1_Intron	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	41					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACGTGCCCACCGTCTTCGACC	0.652000													8	249					0	0	0.361761	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770554	31770554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:31770554C>A	ENST00000240587.4	-	2	472	c.145G>T	c.(145-147)Gag>Tag	p.E49*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	49					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTCCTTCTCCGGGCACATG	0.592000													5	91					0.00198382	0.00232359	0.248553	1	0
VPS13B	157680	broad.mit.edu	37	8	100127968	100127968	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:100127968A>G	ENST00000395996.1	+	7	914	c.803A>G	c.(802-804)gAt>gGt	p.D268G	VPS13B_ENST00000441350.2_Missense_Mutation_p.D268G|VPS13B_ENST00000358544.2_Missense_Mutation_p.D268G|VPS13B_ENST00000355155.1_Missense_Mutation_p.D268G|VPS13B_ENST00000357162.2_Missense_Mutation_p.D268G			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	268					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTATCACAGATCAACAACTG	0.318000													5	168					0	0	0.184627	0	0
MYH13	8735	broad.mit.edu	37	17	10247342	10247342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:10247342G>T	ENST00000418404.3	-	15	1832	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	MYH13_ENST00000252172.4_Missense_Mutation_p.Q557K|MYH13_ENST00000570743.1_Missense_Mutation_p.Q557K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	557	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCAAGATGCTGGTCATACAGC	0.527000													19	201					0.000175454	0.00021816	0.592651	1	0
TANC2	26115	broad.mit.edu	37	17	61466820	61466820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:61466820C>T	ENST00000424789.2	+	15	2748	c.2744C>T	c.(2743-2745)tCt>tTt	p.S915F	TANC2_ENST00000389520.4_Missense_Mutation_p.S915F|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	915							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GATGCCTCTTCTGAAAGTGGC	0.532000													4	50					0	0	0.150653	0	0
DSCAM	1826	broad.mit.edu	37	21	41561153	41561153	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr21:41561153A>G	ENST00000400454.1	-	12	2846	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	790	Ig-like C2-type 9.				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)				ATAGGATGTTATCATCGCAGG	0.488000													5	88					0	0	0.217242	0	0
HUWE1	10075	broad.mit.edu	37	X	53634598	53634598	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:53634598C>T	ENST00000342160.3	-	24	2839	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	HUWE1_ENST00000262854.6_Silent_p.V794V|HUWE1_ENST00000218328.8_Silent_p.V794V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	794					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTTCTGATTCACAAATTCCT	0.413000													5	82					0	0	0.217242	0	0
WWC2	80014	broad.mit.edu	37	4	184205471	184205471	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:184205471G>T	ENST00000403733.3	+	19	3175	c.2976G>T	c.(2974-2976)ccG>ccT	p.P992P	WWC2_ENST00000508747.1_Silent_p.P120P|WWC2_ENST00000504005.1_Silent_p.P674P|WWC2_ENST00000448232.2_Silent_p.P1016P|WWC2_ENST00000513834.1_Silent_p.P943P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	992										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GACAGCATCCGTTTGTGAGGA	0.527000													13	160					1.61879e-10	2.65007e-10	0.411799	1	0
NPY5R	4889	broad.mit.edu	37	4	164272533	164272533	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:164272533C>G	ENST00000515560.1	+	4	2630	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	NPY5R_ENST00000506953.1_Missense_Mutation_p.L370V|NPY5R_ENST00000338566.3_Missense_Mutation_p.L370V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	370					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)				TTTCTACAGACTGACCATACT	0.323000													5	148					0	0	0.184627	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121317	38121317	+	Silent	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:38121317T>A	ENST00000406386.3	+	7	3009	c.2754T>A	c.(2752-2754)ggT>ggA	p.G918G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	918					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGTGATGGTCCCCGAACCT	0.582000													10	274					0	0	0.335167	0	0
NOBOX	135935	broad.mit.edu	37	7	144098633	144098633	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:144098633C>A	ENST00000467773.1	-	4	349	c.350G>T	c.(349-351)cGg>cTg	p.R117L	NOBOX_ENST00000483238.1_Missense_Mutation_p.R117L|NOBOX_ENST00000223140.5_Missense_Mutation_p.R32L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	117			R -> W (in dbSNP:rs7800847).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCTGAGCCCCGGAGCAGTTC	0.622000													10	128					3.86212e-05	4.90281e-05	0.361761	1	0
ZNF699	374879	broad.mit.edu	37	19	9408633	9408633	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:9408633T>A	ENST00000591998.1	-	4	437	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	ZNF699_ENST00000308650.3_Missense_Mutation_p.Q70L			Q32M78	ZN699_HUMAN	zinc finger protein 699	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q70R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGTTCCCACTGGGAGATCAG	0.488000													8	140					0	0	0.278610	0	0
SETD7	80854	broad.mit.edu	37	4	140450217	140450217	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:140450217T>C	ENST00000274031.3	-	4	1166	c.530A>G	c.(529-531)gAa>gGa	p.E177G	SETD7_ENST00000506866.2_Missense_Mutation_p.E177G	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	177					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AGGCCTCCCTTCTTCAGTGGA	0.453000													15	180					0	0	0.500413	0	0
CYLC1	1538	broad.mit.edu	37	X	83129400	83129400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:83129400G>T	ENST00000329312.4	+	4	1721	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	562					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATGAATCAGATGGCACATC	0.363000													4	89					0.00024832	0.000305182	0.150653	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8219168	8219168	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:8219168T>C	ENST00000361926.3	+	8	1627	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.V506A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	506	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTTTCTCGGTGTATGTGGAT	0.592000													9	136					0	0	0.307466	0	0
ASMT	438	broad.mit.edu	37	X	1752120	1752120	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:1752120G>A	ENST00000381241.3	+	7	923	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000381229.4_Missense_Mutation_p.V214M|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	214					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCCCAGAAGTGGTGTGGAC	0.527000													21	397					0	0	0.624587	0	0
OR14C36	127066	broad.mit.edu	37	1	248512452	248512452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:248512452C>A	ENST00000317861.1	+	1	376	c.376C>A	c.(376-378)Cag>Aag	p.Q126K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q126K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCTGTCTGCCAGCCACTTCA	0.512000													4	99					0.00024832	0.000305182	0.150653	1	0
FGFR1OP2	26127	broad.mit.edu	37	12	27109512	27109512	+	Missense_Mutation	SNP	A	A	G	rs137858129		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:27109512A>G	ENST00000229395.3	+	3	514	c.172A>G	c.(172-174)Aga>Gga	p.R58G	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.R58G|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.R58G	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	58						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					TGAAGTCGCGAGACATCGGCC	0.358000													5	149					0	0	0.217242	0	0
FAM135B	51059	broad.mit.edu	37	8	139277945	139277945	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:139277945C>G	ENST00000395297.1	-	4	468		c.e4+1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B											NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCATGACTTACCCTTTCACCA	0.453000										HNSCC(54;0.14)			3	81					0	0	0.184627	0	0
TRPM8	79054	broad.mit.edu	37	2	234905057	234905057	+	Silent	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:234905057C>G	ENST00000324695.4	+	22	3067	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L	TRPM8_ENST00000433712.2_Silent_p.L587L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1009						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCAGCCGCCTCAATATCCCCT	0.522000													8	131					0	0	0.278610	0	0
DTX1	1840	broad.mit.edu	37	12	113532931	113532931	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:113532931C>A	ENST00000257600.3	+	7	1974	c.1471C>A	c.(1471-1473)Ctc>Atc	p.L491I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	491					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGTTCCACCTCATCCCCCA	0.647000													5	207					0.014758	0.016169	0.184627	1	0
SLC25A12	8604	broad.mit.edu	37	2	172641898	172641898	+	Silent	SNP	G	G	A	rs113486658		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:172641898G>A	ENST00000422440.2	-	18	1960	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	SLC25A12_ENST00000392592.4_Silent_p.L534L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	641					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGGCTGTGGCGAGTCTGTATC	0.502000													14	224					0	0	0.457914	0	0
LRP8	7804	broad.mit.edu	37	1	53720798	53720798	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:53720798C>A	ENST00000306052.6	-	16	2595	c.2494G>T	c.(2494-2496)Gtg>Ttg	p.V832L	LRP8_ENST00000354412.3_Missense_Mutation_p.V628L|LRP8_ENST00000371454.2_Missense_Mutation_p.V832L|LRP8_ENST00000465675.1_Missense_Mutation_p.V385L|LRP8_ENST00000347547.2_Missense_Mutation_p.V662L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	832					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTATGGGCACGATGATCCCG	0.512000													4	135					0.00909568	0.0102026	0.150653	1	0
MAP3K7	6885	broad.mit.edu	37	6	91233477	91233477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:91233477C>A	ENST00000369329.3	-	14	1543	c.1382G>T	c.(1381-1383)aGt>aTt	p.S461I	MAP3K7_ENST00000369320.1_Missense_Mutation_p.S115I|MAP3K7_ENST00000369327.3_Missense_Mutation_p.S434I|MAP3K7_ENST00000369325.3_Missense_Mutation_p.S461I|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.S434I	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	461					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CATTCTGACACTGGGACTGGA	0.423000													5	88					0.184627	0.190005	0.184627	1	0
AIM1	202	broad.mit.edu	37	6	106978148	106978148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:106978148G>T	ENST00000369066.3	+	6	3939	c.3452G>T	c.(3451-3453)gGt>gTt	p.G1151V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1151	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGGGATTTGGTGTAATGCAG	0.353000													15	211					8.81451e-21	1.57694e-20	0.575678	1	0
AOC2	314	broad.mit.edu	37	17	41001207	41001207	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:41001207C>T	ENST00000253799.3	+	2	1720	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	AOC2_ENST00000452774.2_Silent_p.L565L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	565					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGCAGGTCCTGGGAAAGGA	0.602000													10	151					0	0	0.361761	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95664931	95664931	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:95664931G>C	ENST00000324972.6	+	13	1475	c.1281_splice	c.e13-1	p.E428_splice	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Splice_Site_p.E408_splice|DYNC1I1_ENST00000359388.4_Splice_Site_p.E391_splice|DYNC1I1_ENST00000457059.1_Splice_Site_p.E411_splice|DYNC1I1_ENST00000537881.1_Splice_Site_p.E391_splice|DYNC1I1_ENST00000447467.2_Splice_Site_p.E411_splice	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	428					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTTTTGGTAGGAGAGCATGGA	0.468000													6	184					0	0	0.248553	0	0
CHD5	26038	broad.mit.edu	37	1	6189113	6189113	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:6189113T>G	ENST00000262450.3	-	23	3503	c.3404A>C	c.(3403-3405)cAc>cCc	p.H1135P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1135	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCGATGCGGTGGGCGCGGCT	0.627000													4	86					0	0	0.184627	0	0
TRPC5	7224	broad.mit.edu	37	X	111155754	111155754	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:111155754C>T	ENST00000262839.2	-	3	1583	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	222					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R222H(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGCCCAGACGGAAGGCAGT	0.557000													14	579					0	0	0.479597	0	0
TRPC7	57113	broad.mit.edu	37	5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:135693041C>T	ENST00000513104.1	-	2	317	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_ENST00000355180.3_Missense_Mutation_p.R12H|TRPC7_ENST00000426057.2_Missense_Mutation_p.R12H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	12					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572000													12	122					0	0	0.387290	0	0
PREX2	80243	broad.mit.edu	37	8	69021743	69021743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:69021743C>T	ENST00000288368.4	+	25	3308	c.3031C>T	c.(3031-3033)Ctc>Ttc	p.L1011F		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	1011					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						TGGCCATGGTCTCAGGTATCT	0.498000													5	164					0	0	0.278610	0	0
FBN2	2201	broad.mit.edu	37	5	127595459	127595459	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:127595459G>A	ENST00000508053.1	-	71	9401	c.8427C>T	c.(8425-8427)ctC>ctT	p.L2809L	FBN2_ENST00000262464.4_Silent_p.L2809L			P35556	FBN2_HUMAN	fibrillin 2	2809					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGAGGTGGGAGAGGTTGAACT	0.517000													8	207					0	0	0.307466	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858311	54858311	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:54858311G>T	ENST00000333896.5	+	15	3473	c.3088G>T	c.(3088-3090)Gtg>Ttg	p.V1030L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1043L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1043					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATCAGCGACGTGTGGGAGGA	0.627000													11	228					6.42651e-13	1.09873e-12	0.387290	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073300	17073300	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:17073300G>T	ENST00000359963.3	-	1	400	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	47					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCAAGGCCGGATGACACTGG	0.642000													11	191					2.80697e-09	4.39172e-09	0.387290	1	0
BCL6B	255877	broad.mit.edu	37	17	6927841	6927841	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:6927841C>G	ENST00000293805.5	+	4	615	c.523C>G	c.(523-525)Cga>Gga	p.R175G	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	175	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						TACTGAATCTCGAAGCTGCAG	0.622000													30	353					0	0	0.788014	0	0
MME	4311	broad.mit.edu	37	3	154878222	154878222	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:154878222G>A	ENST00000460393.1	+	17	1765	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	MME_ENST00000360490.2_Missense_Mutation_p.G549R|MME_ENST00000462745.1_Missense_Mutation_p.G549R|MME_ENST00000493237.1_Missense_Mutation_p.G549R|MME_ENST00000492661.1_Missense_Mutation_p.G549R|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	549					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTACTCTTCAGGAAGAAATCA	0.343000													19	305					0	0	0.608945	0	0
CCDC19	25790	broad.mit.edu	37	1	159862999	159862999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:159862999C>A	ENST00000368099.4	-	2	164	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	34						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTCTCATCCACCTCAGAGCTC	0.527000													10	265					7.48243e-07	1.05752e-06	0.335167	1	0
MMP15	4324	broad.mit.edu	37	16	58071482	58071482	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:58071482A>G	ENST00000219271.3	+	2	1054	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	90					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCGCTTCTACGGGATCCCA	0.622000													8	226					0	0	0.278610	0	0
OR8K3	219473	broad.mit.edu	37	11	56085826	56085826	+	Missense_Mutation	SNP	C	C	A	rs149952066		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:56085826C>A	ENST00000312711.1	+	1	44	c.44C>A	c.(43-45)aCg>aAg	p.T15K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423000													17	229					3.52763e-06	4.77864e-06	0.520397	1	0
ZP4	57829	broad.mit.edu	37	1	238053218	238053218	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:238053218G>C	ENST00000366570.4	-	3	507	c.349C>G	c.(349-351)Cac>Gac	p.H117D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	117					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCACCTTGTGTTCAGCCGCG	0.582000													39	574					0	0	0.819951	0	0
PELI1	57162	broad.mit.edu	37	2	64327576	64327576	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:64327576C>A	ENST00000358912.4	-	4	701	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	87					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCAACCACCACAGTCTGGGCC	0.328000													9	240					1.36491e-13	2.35253e-13	0.435327	1	0
CDH10	1008	broad.mit.edu	37	5	24511451	24511451	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:24511451G>A	ENST00000264463.4	-	6	1494	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCACAGTGATGATGCCTTCCT	0.408000										HNSCC(23;0.051)			8	298					0	0	0.335167	0	0
CCBE1	147372	broad.mit.edu	37	18	57122123	57122123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr18:57122123A>T	ENST00000439986.4	-	6	651	c.614T>A	c.(613-615)tTc>tAc	p.F205Y	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	205					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATCTGGTAGAACTCCTTGCA	0.562000													4	116					0	0	0.184627	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213043	43213043	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:43213043G>A	ENST00000236040.4	-	14	1995	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F	LEPRE1_ENST00000296388.5_Missense_Mutation_p.S652F|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.S652F	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	652	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTGCCTGAAGAGAATCCCAC	0.597000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	175					0	0	0.307466	0	0
OR10C1	442194	broad.mit.edu	37	6	29408301	29408301	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:29408301C>A	ENST00000444197.2	+	1	1219	c.509C>A	c.(508-510)cCc>cAc	p.P170H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTGCGGCCCCAATACCATC	0.592000													6	258					5.9392e-07	8.45041e-07	0.217242	1	0
NADK	65220	broad.mit.edu	37	1	1688592	1688592	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:1688592A>C	ENST00000344463.4	-	6	954	c.733T>G	c.(733-735)Tgg>Ggg	p.W245G	NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.W245G|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTC	0.627000													3	16					0	0	0.150653	0	0
OR5A2	219981	broad.mit.edu	37	11	59190251	59190251	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:59190251G>T	ENST00000302040.4	-	1	198	c.176C>A	c.(175-177)cCc>cAc	p.P59H		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGTACATGGGCATGTGCAG	0.488000													11	114					1.58986e-06	2.18156e-06	0.361761	1	0
LIN52	91750	broad.mit.edu	37	14	74665653	74665653	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:74665653C>T	ENST00000555028.1	+	6	491	c.324C>T	c.(322-324)ctC>ctT	p.L108L		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	108										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GGAAATTCCTCAATATTCTAG	0.448000													6	89					0	0	0.217242	0	0
ITGA7	3679	broad.mit.edu	37	12	56092259	56092259	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:56092259C>T	ENST00000257880.7	-	8	1451	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	ITGA7_ENST00000257879.6_Missense_Mutation_p.G367E|ITGA7_ENST00000555728.1_Missense_Mutation_p.G411E|ITGA7_ENST00000452168.2_Missense_Mutation_p.G274E|ITGA7_ENST00000394229.2_Missense_Mutation_p.G367E|ITGA7_ENST00000394230.2_Missense_Mutation_p.G371E|ITGA7_ENST00000553804.1_Missense_Mutation_p.G371E|ITGA7_ENST00000347027.6_Missense_Mutation_p.G367E			Q13683	ITA7_HUMAN	integrin, alpha 7	411					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGGGAGATCCCAGCCCAGTG	0.612000													10	159					0	0	0.387290	0	0
NEB	4703	broad.mit.edu	37	2	152423858	152423858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:152423858G>T	ENST00000427231.2	-	114	18182	c.17980C>A	c.(17980-17982)Cac>Aac	p.H5994N	NEB_ENST00000409198.1_Missense_Mutation_p.H4293N|NEB_ENST00000172853.10_Missense_Mutation_p.H4293N|NEB_ENST00000603639.1_Missense_Mutation_p.H5994N|NEB_ENST00000604864.1_Missense_Mutation_p.H5994N|NEB_ENST00000397345.3_Missense_Mutation_p.H5994N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6014					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTGTTTTGTGATAGTCCTCT	0.438000													6	120					0.00307968	0.00355799	0.278610	1	0
NPAS4	266743	broad.mit.edu	37	11	66190263	66190263	+	Silent	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:66190263A>C	ENST00000311034.2	+	4	725	c.549A>C	c.(547-549)gcA>gcC	p.A183A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	183					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTACTGGGCAGGAAATCCCG	0.627000													6	273					0	0	0.217242	0	0
DST	667	broad.mit.edu	37	6	56470331	56470331	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:56470331A>T	ENST00000370754.5	-	39	8995	c.8996T>A	c.(8995-8997)cTc>cAc	p.L2999H	DST_ENST00000446842.2_Missense_Mutation_p.L2495H|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.L2821H|DST_ENST00000312431.6_Missense_Mutation_p.L2821H|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L2821H			Q03001	DYST_HUMAN	dystonin	2821					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTTAATGAGATCGCTTCC	0.388000													17	415					0	0	0.500413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881987	228881987	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:228881987A>G	ENST00000392056.3	-	7	3629	c.3583T>C	c.(3583-3585)Tac>Cac	p.Y1195H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1195H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1195						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGTACCTGTAGAACTCCTCA	0.567000													6	210					0	0	0.248553	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													8	64					0	0	0.361761	0	0
ENAM	10117	broad.mit.edu	37	4	71509995	71509995	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:71509995C>A	ENST00000396073.3	+	9	3133	c.2852C>A	c.(2851-2853)aCg>aAg	p.T951K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	951					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GATGTGTCCACGCTGAGGAGG	0.448000													7	173					0.0381472	0.0403352	0.278610	1	0
LINC00521	256369	broad.mit.edu	37	14	94464490	94464490	+	RNA	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:94464490G>A	ENST00000444118.1	+	0	170					NR_024182.1																						GGCAGCCATGGACACAGGCCA	0.572000													5	81					0	0	0.248553	0	0
CPA5	93979	broad.mit.edu	37	7	130002782	130002782	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:130002782A>G	ENST00000485477.1	+	8	1823	c.694A>G	c.(694-696)Atc>Gtc	p.I232V	CPA5_ENST00000474905.1_Missense_Mutation_p.I232V|CPA5_ENST00000466363.2_Missense_Mutation_p.I232V|CPA5_ENST00000461828.1_Missense_Mutation_p.I232V|CPA5_ENST00000431780.2_Missense_Mutation_p.I232V|CPA5_ENST00000393213.3_Missense_Mutation_p.I232V|CPA5_ENST00000355388.3_Missense_Mutation_p.I232V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	232					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGCCATGGACATCTTCATAGA	0.527000													12	91					0	0	0.411799	0	0
ZIC3	7547	broad.mit.edu	37	X	136651060	136651060	+	Splice_Site	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:136651060G>A	ENST00000287538.5	+	2	1610		c.e2-1		ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Splice_Site	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3						cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCCTTTTGCAGGTGAGAAACC	0.532000													32	624					0	0	0.760397	0	0
TINAG	27283	broad.mit.edu	37	6	54212271	54212271	+	Silent	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:54212271T>C	ENST00000259782.4	+	6	951	c.855T>C	c.(853-855)aaT>aaC	p.N285N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	285					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGATGCAATAGTGGAAGCA	0.443000													7	105					0	0	0.248553	0	0
ATP8B1	5205	broad.mit.edu	37	18	55317718	55317718	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr18:55317718T>C	ENST00000536015.1	-	27	3531	c.3412A>G	c.(3412-3414)Aac>Gac	p.N1138D	RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.N1138D|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1138					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCAGAGCGTTTGAAGCTGTG	0.453000													4	92					0	0	0.184627	0	0
GALNT14	79623	broad.mit.edu	37	2	31215753	31215753	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:31215753T>G	ENST00000349752.5	-	2	889	c.250A>C	c.(250-252)Agt>Cgt	p.S84R	GALNT14_ENST00000356174.3_Missense_Mutation_p.S84R|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.S49R|GALNT14_ENST00000406653.1_Missense_Mutation_p.S64R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	84						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATCCGCTCACTCTCCCGCTGG	0.557000													10	181					0	0	0.335167	0	0
USH2A	7399	broad.mit.edu	37	1	216256929	216256929	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:216256929C>G	ENST00000366943.2	-	26	5554		c.e26-1		RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		TCCAGGAACCCTTTAAAGATA	0.358000										HNSCC(13;0.011)			6	156					0	0	0.217242	0	0
SBF1	6305	broad.mit.edu	37	22	50898555	50898555	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:50898555G>A	ENST00000380817.2	-	26	3500	c.3317C>T	c.(3316-3318)cCg>cTg	p.P1106L	SBF1_ENST00000348911.6_Missense_Mutation_p.P1107L|SBF1_ENST00000390679.3_Missense_Mutation_p.P1106L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1106					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGAGGACGGGGTCAGCGT	0.677000													6	119					0	0	0.248553	0	0
ANK2	287	broad.mit.edu	37	4	114195692	114195692	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:114195692G>T	ENST00000357077.4	+	15	1623	c.1570G>T	c.(1570-1572)Gat>Tat	p.D524Y	ANK2_ENST00000506722.1_Missense_Mutation_p.D503Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D524Y|ANK2_ENST00000264366.6_Missense_Mutation_p.D524Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	524					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCTCATCCAGATGCGGCCAC	0.532000													9	133					0.00448238	0.00512272	0.307466	1	0
HOXD10	3236	broad.mit.edu	37	2	176981682	176981682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:176981682G>T	ENST00000249501.4	+	1	376	c.121G>T	c.(121-123)Gca>Tca	p.A41S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	41						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCACCTAGCGCAGACATGGG	0.478000													12	205					0.010729	0.0120029	0.387290	1	0
LOC283194	283194	broad.mit.edu	37	11	58746750	58746750	+	RNA	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:58746750G>T	ENST00000533954.1	-	0	604				RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000532098.1_RNA	NR_033853.1																						CCATCTCTGAGGATCCCAGGC	0.468000													3	20					0.004672	0.00532508	0.115264	1	0
BCHE	590	broad.mit.edu	37	3	165548106	165548106	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:165548106G>T	ENST00000264381.3	-	2	882	c.716C>A	c.(715-717)cCt>cAt	p.P239H	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	239					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATGGCTTCCAGGAGAAAGCAA	0.433000													15	135					1.52009e-12	2.57807e-12	0.479597	1	0
SPTB	6710	broad.mit.edu	37	14	65240072	65240072	+	Missense_Mutation	SNP	G	G	A	rs111611921		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:65240072G>A	ENST00000389722.3	-	24	5097	c.5044C>T	c.(5044-5046)Cgc>Tgc	p.R1682C	SPTB_ENST00000556626.1_Missense_Mutation_p.R1682C|SPTB_ENST00000542895.1_Missense_Mutation_p.R1682C|SPTB_ENST00000389721.5_Missense_Mutation_p.R1682C|SPTB_ENST00000389720.3_Missense_Mutation_p.R1682C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1682					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGCGCTTGCGCTCTTCCGCC	0.547000													14	230					0	0	0.457914	0	0
ALOX15B	247	broad.mit.edu	37	17	7943288	7943288	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:7943288C>A	ENST00000380183.4	+	3	575	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	ALOX15B_ENST00000572022.1_Missense_Mutation_p.Q146K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.Q146K|ALOX15B_ENST00000573359.1_Missense_Mutation_p.Q146K	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	146	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCAGGCCCGGCAGGAGATGTA	0.612000													9	122					2.17888e-05	2.79953e-05	0.335167	1	0
NXF3	56000	broad.mit.edu	37	X	102334747	102334747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:102334747G>T	ENST00000395065.3	-	13	1205	c.1104C>A	c.(1102-1104)taC>taA	p.Y368*	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Nonsense_Mutation_p.Y40*	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	368	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTCATCGTGGTAAGCACTAA	0.552000													13	282					1.3612e-06	1.8923e-06	0.479597	1	0
CCNA1	8900	broad.mit.edu	37	13	37014267	37014267	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:37014267C>T	ENST00000418263.1	+	6	1392	c.1042C>T	c.(1042-1044)Ctt>Ttt	p.L348F	CCNA1_ENST00000255465.4_Missense_Mutation_p.L349F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L305F|CCNA1_ENST00000449823.1_Missense_Mutation_p.L305F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	349					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)		CCAGTTTCTCCTTCAGTACTT	0.463000													8	236					0	0	0.335167	0	0
MPPED2	744	broad.mit.edu	37	11	30439065	30439065	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:30439065C>G	ENST00000448418.2	-	5	1012	c.652_splice	c.e5+1	p.G218_splice	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000358117.5_Splice_Site_p.G218_splice	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	218					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTCACTTACCTAGAGGAGGT	0.443000													4	90					0	0	0.150653	0	0
PPL	5493	broad.mit.edu	37	16	4935802	4935802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:4935802G>A	ENST00000345988.2	-	22	2943	c.2854C>T	c.(2854-2856)Cag>Tag	p.Q952*	PPL_ENST00000590782.2_Nonsense_Mutation_p.Q950*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	952					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGCTGCAGCTGCTGGAAGCTC	0.622000													12	303					0	0	0.387290	0	0
OR51M1	390059	broad.mit.edu	37	11	5411020	5411020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:5411020C>A	ENST00000328611.3	+	1	414	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	131						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGATGTCCTTTGACCGC	0.498000													19	477					1.77063e-15	3.10226e-15	0.693898	1	0
DFNB59	494513	broad.mit.edu	37	2	179319148	179319148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:179319148G>T	ENST00000409117.3	+	3	657	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	DFNB59_ENST00000375129.4_Missense_Mutation_p.G101W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	101					sensory perception of sound			p.G101R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGACGTTGGGATTAACGT	0.338000													6	146					0.0293803	0.0312997	0.248553	1	0
ANO4	121601	broad.mit.edu	37	12	101430894	101430894	+	Missense_Mutation	SNP	A	A	G	rs148799316		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:101430894A>G	ENST00000392979.3	+	9	1119	c.758A>G	c.(757-759)aAt>aGt	p.N253S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.N288S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	288						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGCTTACCAATGGCTCCTAT	0.358000										HNSCC(74;0.22)			16	270					0	0	0.500413	0	0
VILL	50853	broad.mit.edu	37	3	38043985	38043985	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:38043985G>T	ENST00000283713.6	+	14	1844	c.1578G>T	c.(1576-1578)gtG>gtT	p.V526V	VILL_ENST00000465644.1_Silent_p.V244V|VILL_ENST00000383759.2_Silent_p.V526V			O15195	VILL_HUMAN	villin-like	526					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCATGGAGGTGCCAGCCCGTG	0.577000													10	181					1.58986e-06	2.18156e-06	0.361761	1	0
TG	7038	broad.mit.edu	37	8	133978845	133978845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:133978845G>T	ENST00000220616.4	+	30	5629	c.5589G>T	c.(5587-5589)caG>caT	p.Q1863H	TG_ENST00000519543.1_Missense_Mutation_p.Q17H|TG_ENST00000542445.1_Missense_Mutation_p.Q233H|TG_ENST00000377869.1_Missense_Mutation_p.Q1806H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1863					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTCAACCAGGTCATTGTCA	0.448000													9	151					0.00448238	0.00512272	0.307466	1	0
CPAMD8	27151	broad.mit.edu	37	19	17058031	17058031	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:17058031T>C	ENST00000443236.1	-	21	2687	c.2656A>G	c.(2656-2658)Atg>Gtg	p.M886V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	839						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGAGCTTCATGTACACCTGC	0.602000													36	406					0	0	0.834066	0	0
SNAPC1	6617	broad.mit.edu	37	14	62242818	62242818	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:62242818G>C	ENST00000216294.4	+	5	644	c.540G>C	c.(538-540)atG>atC	p.M180I	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	180	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTAGGAAATGCTGAATGTTC	0.338000													3	61					0	0	0.115264	0	0
NAT8	9027	broad.mit.edu	37	2	73868350	73868350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:73868350G>C	ENST00000272425.3	-	2	555	c.406C>G	c.(406-408)Cgg>Ggg	p.R136G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	136	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGCTGCAACCGCTTCTCCCTC	0.582000													16	151					0	0	0.500413	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													7	98					0	0	0.411799	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688383	26688383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:26688383G>T	ENST00000529632.2	+	2	302	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E36*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	36						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTCTTCCCGAGGGAGATGC	0.567000													3	41					0.00024832	0.000305182	0.150653	1	0
ITGA8	8516	broad.mit.edu	37	10	15714727	15714727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:15714727A>T	ENST00000378076.3	-	7	1051	c.698T>A	c.(697-699)gTt>gAt	p.V233D		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	233					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GATATCTGCAACACTGGCAGT	0.443000													7	140					0	0	0.307466	0	0
LGI2	55203	broad.mit.edu	37	4	25014061	25014061	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:25014061T>C	ENST00000382114.4	-	7	901	c.716A>G	c.(715-717)aAg>aGg	p.K239R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	239						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACATCGTTCTTGGAGTTGAA	0.458000													13	176					0	0	0.411799	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022860	131022860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:131022860G>A	ENST00000421699.2	-	17	1573	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	521						Golgi cisterna membrane	protein binding	p.R509C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ATTTGCCTGCGCGCCTCCGCC	0.662000													25	385					0	0	0.740014	0	0
RHAG	6005	broad.mit.edu	37	6	49578836	49578836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:49578836C>A	ENST00000371175.4	-	7	994	c.968G>T	c.(967-969)aGg>aTg	p.R323M	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	323					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATCATGGATCCTCAGTTTAGT	0.433000													11	160					2.80697e-09	4.39172e-09	0.387290	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011572	46011572	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr21:46011572G>A	ENST00000400368.1	-	1	814	c.794C>T	c.(793-795)cCc>cTc	p.P265L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	265	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GTGCTGGCAGGGGGAGGAGGT	0.647000													30	433					0	0	0.750413	0	0
CACNG5	27091	broad.mit.edu	37	17	64880918	64880918	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:64880918C>G	ENST00000169565.3	+	4	710	c.710C>G	c.(709-711)tCc>tGc	p.S237C	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTTCCTCATCCCAGAATGTG	0.617000													5	128					0	0	0.184627	0	0
EFNA3	1944	broad.mit.edu	37	1	155057860	155057860	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:155057860G>T	ENST00000368408.3	+	2	492	c.422G>T	c.(421-423)gGc>gTc	p.G141V	EFNA3_ENST00000418360.2_Missense_Mutation_p.G141V|EFNA3_ENST00000556931.1_Missense_Mutation_p.G136V|EFNA3_ENST00000505139.1_Missense_Mutation_p.G136V	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	141					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCCACGCCGGCCACGAGTAC	0.667000													5	40					0.014758	0.016169	0.184627	1	0
OR2M4	26245	broad.mit.edu	37	1	248402922	248402922	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:248402922G>C	ENST00000306687.1	+	1	692	c.692G>C	c.(691-693)gGg>gCg	p.G231A		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGCTCTGGGGAAAGTCGT	0.488000													5	119					0	0	0.184627	0	0
CDR1	1038	broad.mit.edu	37	X	139865804	139865804	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:139865804G>T	ENST00000370532.2	-	1	919	c.728C>A	c.(727-729)aCa>aAa	p.T243K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	243										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GTCAATCAGTGTCTTCCAGAA	0.423000													7	335					2.7689e-08	4.14845e-08	0.248553	1	0
PARP2	10038	broad.mit.edu	37	14	20825826	20825826	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:20825826C>G	ENST00000250416.5	+	16	1649	c.1622C>G	c.(1621-1623)gCa>gGa	p.A541G	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.A528G	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	541	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTAGGACCAGCAAGTGACACA	0.418000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					6	143					0	0	0.248553	0	0
ACAN	176	broad.mit.edu	37	15	89398156	89398156	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:89398156G>A	ENST00000439576.2	+	12	2714	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V	ACAN_ENST00000559004.1_Silent_p.V780V|ACAN_ENST00000352105.7_Silent_p.V780V|ACAN_ENST00000561243.1_Silent_p.V780V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	780					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAACTGAAGTGCCCTCTGCCT	0.562000													3	24					0	0	0.115264	0	0
RBM14	10432	broad.mit.edu	37	11	66392896	66392896	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:66392896C>A	ENST00000310137.4	+	2	1688	c.1549C>A	c.(1549-1551)Cgc>Agc	p.R517S	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	517	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCTCCTTACCGCACTCAGTC	0.652000													4	138					0.184627	0.190005	0.184627	1	0
PMPCB	9512	broad.mit.edu	37	7	102939050	102939050	+	Silent	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:102939050A>C	ENST00000249269.4	+	2	173	c.135A>C	c.(133-135)acA>acC	p.T45T	PMPCB_ENST00000428154.1_Silent_p.T45T|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	45					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGAAGTACACAGGCTGCTA	0.398000													19	321					0	0	0.557998	0	0
ASXL2	55252	broad.mit.edu	37	2	25965339	25965339	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:25965339G>A	ENST00000435504.4	-	13	4160	c.3867C>T	c.(3865-3867)ttC>ttT	p.F1289F	ASXL2_ENST00000404843.1_Silent_p.F772F|ASXL2_ENST00000272341.4_Silent_p.F772F|ASXL2_ENST00000336112.4_Silent_p.F1261F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAGAACTGAAAAGCTCGG	0.542000													6	30					0	0	0.217242	0	0
LDB2	9079	broad.mit.edu	37	4	16760782	16760782	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:16760782G>C	ENST00000502640.1	-	2	382	c.235_splice	c.e2+1	p.Y78_splice	LDB2_ENST00000515064.1_Splice_Site_p.Y78_splice|LDB2_ENST00000441778.2_Splice_Site_p.Y78_splice|LDB2_ENST00000304523.5_Splice_Site_p.Y78_splice			O43679	LDB2_HUMAN	LIM domain binding 2	78							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTTTCTTACTGTATCGCTTTG	0.418000													4	105					0	0	0.184627	0	0
PSAT1	29968	broad.mit.edu	37	9	80919793	80919793	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:80919793G>C	ENST00000376588.3	+	4	402	c.334G>C	c.(334-336)Gca>Cca	p.A112P	PSAT1_ENST00000347159.2_Missense_Mutation_p.A112P	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	112					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AGCTAAGGCCGCAGAAGAAGC	0.507000													10	164					0	0	0.387290	0	0
CDH23	64072	broad.mit.edu	37	10	73468917	73468917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:73468917G>T	ENST00000224721.6	+	26	3189	c.3184G>T	c.(3184-3186)Ggc>Tgc	p.G1062C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1057	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACCGTGGTGGGCCTGGACCG	0.607000													5	123					0.000602214	0.000727461	0.184627	1	0
B3GNT3	10331	broad.mit.edu	37	19	17919025	17919025	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:17919025C>A	ENST00000318683.6	+	2	556	c.409C>A	c.(409-411)Cgg>Agg	p.R137R	B3GNT3_ENST00000595387.1_Silent_p.R137R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	137					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGCAAGGTACGGGGTTTGCA	0.677000													7	89					0.248553	0.25212	0.248553	1	0
SIRT1	23411	broad.mit.edu	37	10	69648737	69648737	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:69648737G>A	ENST00000212015.6	+	3	698	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	215	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CACCTGAGTTGGATGATATGA	0.343000													6	121					0	0	0.217242	0	0
ACTA1	58	broad.mit.edu	37	1	229568737	229568737	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:229568737G>A	ENST00000366684.3	-	2	228	c.126C>T	c.(124-126)caC>caT	p.H42H	ACTA1_ENST00000366683.2_Silent_p.H42H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	42			H -> Y (in NEM3; severe).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCCTGACCTGGTGTCGGGGGC	0.721000													10	93					0	0	0.361761	0	0
MARCO	8685	broad.mit.edu	37	2	119729105	119729105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:119729105C>T	ENST00000541757.1	+	5	601	c.221C>T	c.(220-222)gCc>gTc	p.A74V	MARCO_ENST00000327097.4_Missense_Mutation_p.A152V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	152					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GAACAAGGCGCCCCAGGTAGG	0.577000													10	195					0	0	0.411799	0	0
MYOF	26509	broad.mit.edu	37	10	95148890	95148890	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:95148890A>G	ENST00000371501.4	-	18	1600	c.1478T>C	c.(1477-1479)gTa>gCa	p.V493A	MYOF_ENST00000359263.4_Missense_Mutation_p.V493A|MYOF_ENST00000371502.4_Missense_Mutation_p.V493A|MYOF_ENST00000358334.5_Missense_Mutation_p.V480A			Q9NZM1	MYOF_HUMAN	myoferlin	493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACAAAGCCTACCTCTGTTTC	0.393000													4	89					0	0	0.150653	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247093	89247093	+	RNA	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:89247093A>T	ENST00000496168.1	-	0	257																											AGACTGGGTCATCTGGATGTC	0.453000													20	283					0	0	0.608945	0	0
NUP153	9972	broad.mit.edu	37	6	17629516	17629516	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:17629516C>A	ENST00000262077.2	-	18	2913	c.2914G>T	c.(2914-2916)Gtt>Ttt	p.V972F	NUP153_ENST00000537253.1_Missense_Mutation_p.V1003F	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	972					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTTTTTTAACTTCTTCGGGC	0.328000													4	111					0.00909568	0.0102026	0.150653	1	0
COL23A1	91522	broad.mit.edu	37	5	177677090	177677090	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:177677090G>T	ENST00000390654.3	-	18	1388	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	344	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TGGGGCACCGGGCAATCCAAG	0.562000													7	158					5.18039e-06	6.9509e-06	0.278610	1	0
DAB2	1601	broad.mit.edu	37	5	39382719	39382719	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:39382719C>A	ENST00000545653.1	-	9	1809		c.e9+1		DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Splice_Site|DAB2_ENST00000509337.1_Splice_Site	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)						cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGACAATTCACCTTAGCAGTC	0.493000													10	200					1.36491e-13	2.35253e-13	0.435327	1	0
PXDNL	137902	broad.mit.edu	37	8	52325775	52325775	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:52325775G>T	ENST00000356297.4	-	15	1939	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	PXDNL_ENST00000543296.1_Silent_p.S613S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	613					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCAAGAATGGAAGATTCAA	0.353000													6	92					0.00198382	0.00232359	0.248553	1	0
OTUD6A	139562	broad.mit.edu	37	X	69283109	69283109	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:69283109C>A	ENST00000338352.2	+	1	769	c.735C>A	c.(733-735)atC>atA	p.I245I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	245	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTGATCATCGGGGAGGAGT	0.647000													5	103					0.184627	0.190005	0.184627	1	0
GPC5	2262	broad.mit.edu	37	13	92346009	92346009	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr13:92346009G>T	ENST00000377067.3	+	3	1266	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	298						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATATCCGGTCGTTGGAAGAAC	0.507000													10	192					6.40141e-05	8.07797e-05	0.387290	1	0
TEX15	56154	broad.mit.edu	37	8	30695549	30695549	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:30695549T>A	ENST00000256246.2	-	3	7176	c.7102A>T	c.(7102-7104)Aac>Tac	p.N2368Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2368										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTATTTTGTTTTCGCTTTTG	0.318000													6	189					0	0	0.217242	0	0
CD300C	10871	broad.mit.edu	37	17	72541913	72541913	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:72541913G>A	ENST00000330793.1	-	1	369	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	3					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCAGGCCCTGGCAGTCATTC	0.597000													4	28					0	0	0.184627	0	0
FAM71B	153745	broad.mit.edu	37	5	156589752	156589752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:156589752C>A	ENST00000302938.4	-	2	1619	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	508						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGTTCTCGACTCCTTTTTGG	0.478000													9	133					0.00448238	0.00512272	0.307466	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178444	74178444	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:74178444G>T	ENST00000300504.2	+	7	688	c.605G>T	c.(604-606)gGc>gTc	p.G202V	TBC1D21_ENST00000535547.2_Missense_Mutation_p.G166V|TBC1D21_ENST00000562056.1_Missense_Mutation_p.G165V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	202	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ATCAACATTGGCGTGGCCAAG	0.572000													10	127					9.31168e-06	1.24156e-05	0.435327	1	0
DPF3	8110	broad.mit.edu	37	14	73198546	73198546	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr14:73198546G>A	ENST00000541685.1	-	4	410	c.398C>T	c.(397-399)gCc>gTc	p.A133V	DPF3_ENST00000556509.1_Missense_Mutation_p.A133V|DPF3_ENST00000546183.1_Missense_Mutation_p.A143V	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	133					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCTCCCTGGCATCCACCTT	0.572000													3	29					0	0	0.184627	0	0
C4orf21	55345	broad.mit.edu	37	4	113553107	113553107	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:113553107C>G	ENST00000505019.1	-	3	206	c.81G>C	c.(79-81)aaG>aaC	p.K27N	C4orf21_ENST00000445203.2_5'UTR|C4orf21_ENST00000309071.5_Missense_Mutation_p.K27N	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	27										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGTGAGTGATCTTCAGAATTC	0.323000													4	96					0	0	0.150653	0	0
METTL2B	55798	broad.mit.edu	37	7	128128171	128128171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:128128171G>T	ENST00000480046.1	+	4	545	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F	METTL2B_ENST00000262432.8_Missense_Mutation_p.V209F			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	209							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGACTCTTTGTTTATTGCTG	0.383000													6	124					1.6384e-10	2.67185e-10	0.248553	1	0
MTR	4548	broad.mit.edu	37	1	236990189	236990189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:236990189C>T	ENST00000366577.5	+	11	1382	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	MTR_ENST00000535889.1_Missense_Mutation_p.H330Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	330	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AACACCAGATCATATCAGGTA	0.363000													5	102					0	0	0.184627	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133634	91133634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:91133634G>T	ENST00000373094.1	+	2	3240	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.E799*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	799					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAAATACTGAGATAGCTGA	0.443000													7	224					2.0095e-06	2.74847e-06	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179597694	179597694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:179597694G>C	ENST00000589042.1	-	55	16433	c.16209C>G	c.(16207-16209)taC>taG	p.Y5403*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y4159*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y5086*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5086	Ig-like 34.						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)			ATGCTATCCTGTATCTGTCAG	0.473000													4	78					0	0	0.150653	0	0
LRRC66	339977	broad.mit.edu	37	4	52861972	52861972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:52861972G>A	ENST00000343457.3	-	4	1222	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	406						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CACTTTTTTTGCCACAGTCTG	0.557000													8	126					0	0	0.278610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602919	13602919	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:13602919C>A	ENST00000040738.5	-	10	5740	c.5605G>T	c.(5605-5607)Gat>Tat	p.D1869Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1869							DNA binding										GTCACAACATCCTCCCCTTCC	0.458000													11	183					1.58986e-06	2.18156e-06	0.361761	1	0
L1CAM	3897	broad.mit.edu	37	X	153129865	153129865	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153129865C>A	ENST00000370060.1	-	25	3423	c.3234G>T	c.(3232-3234)tgG>tgT	p.W1078C	L1CAM_ENST00000370057.3_Missense_Mutation_p.W1078C|L1CAM_ENST00000543994.1_Missense_Mutation_p.W1080C|L1CAM_ENST00000361981.3_Missense_Mutation_p.W1073C|L1CAM_ENST00000361699.4_Missense_Mutation_p.W1078C|L1CAM_ENST00000538883.1_Missense_Mutation_p.W1080C|L1CAM_ENST00000370055.1_Missense_Mutation_p.W1073C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1078	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.W1078*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAGGTCCCACTGCGTGT	0.582000													18	377					2.4624e-09	3.89573e-09	0.575678	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956339	128956339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:128956339C>A	ENST00000274487.4	+	9	1634	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	497	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAATGACCACCCATCGTGTGC	0.353000													4	147					0.150653	0.156179	0.150653	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247092	89247092	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:89247092C>A	ENST00000496168.1	-	0	258																											GAGACTGGGTCATCTGGATGT	0.458000													20	283					3.8784e-16	6.82342e-16	0.608945	1	0
SYDE2	84144	broad.mit.edu	37	1	85666104	85666104	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:85666104C>T	ENST00000341460.5	-	1	625	c.576G>A	c.(574-576)caG>caA	p.Q192Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	192					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACATCCACTTCTGCAGCTTCT	0.622000													5	337					0	0	0.217242	0	0
FAM188B	84182	broad.mit.edu	37	7	30830815	30830815	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:30830815C>T	ENST00000265299.6	+	5	775	c.698C>T	c.(697-699)tCa>tTa	p.S233L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	233										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACGGTCCTCACCGTCAAGC	0.527000													19	355					0	0	0.557998	0	0
LSP1	4046	broad.mit.edu	37	11	1904651	1904651	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:1904651C>T	ENST00000406638.2	+	4	1475	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LSP1_ENST00000381775.1_Missense_Mutation_p.P248L|LSP1_ENST00000311604.3_Missense_Mutation_p.P120L|LSP1_ENST00000405957.2_Missense_Mutation_p.P58L|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	120					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACCCACAGGCCCGGCCTGCAT	0.562000													4	142					0	0	0.217242	0	0
OR51G2	81282	broad.mit.edu	37	11	4936782	4936782	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:4936782A>T	ENST00000322013.3	-	1	140	c.112T>A	c.(112-114)Ttc>Atc	p.F38I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATACATGAAGCACAGTGGG	0.502000													9	204					0	0	0.335167	0	0
MYO3A	53904	broad.mit.edu	37	10	26243912	26243912	+	Missense_Mutation	SNP	G	G	C	rs143501410		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:26243912G>C	ENST00000265944.5	+	4	444	c.278G>C	c.(277-279)gGa>gCa	p.G93A	MYO3A_ENST00000376301.1_Missense_Mutation_p.G93A|MYO3A_ENST00000543632.1_Missense_Mutation_p.G93A|MYO3A_ENST00000376302.1_Missense_Mutation_p.G93A	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	93	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAGTAAATGGAGACAAGCTG	0.368000													17	272					0	0	0.539581	0	0
ABCG8	64241	broad.mit.edu	37	2	44079786	44079786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:44079786C>A	ENST00000272286.2	+	6	833	c.743C>A	c.(742-744)gCc>gAc	p.A248D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	248	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCACAGCCCACAACCTG	0.582000													17	217					4.7546e-09	7.33073e-09	0.500413	1	0
OR7C1	26664	broad.mit.edu	37	19	14910760	14910760	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:14910760G>T	ENST00000248073.2	-	1	263	c.189C>A	c.(187-189)ctC>ctA	p.L63L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	63					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACAGGTTGGAGAGGAAGAAGT	0.473000													18	179					1.2644e-06	1.76351e-06	0.592651	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146277	5146277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:5146277C>A	ENST00000274181.7	+	3	348	c.210C>A	c.(208-210)caC>caA	p.H70Q	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H70Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	70					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGTTGACCACAGGGGCGATT	0.512000													5	114					0.0293803	0.0312997	0.248553	1	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:7578235T>A	ENST00000420246.2	-	6	746	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	91					0	0	0.150653	0	0
TAF15	8148	broad.mit.edu	37	17	34171535	34171535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:34171535G>T	ENST00000588240.1	+	15	1347	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	TAF15_ENST00000311979.3_Missense_Mutation_p.R408I|TAF15_ENST00000592237.1_Missense_Mutation_p.R320I	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	411	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CGTGGGGGCAGAggtggagac	0.587000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								8	172					0.0381472	0.0403352	0.278610	1	0
GPR137B	7107	broad.mit.edu	37	1	236368531	236368531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:236368531C>A	ENST00000366592.3	+	6	1163	c.1072C>A	c.(1072-1074)Cct>Act	p.P358T	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	358						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAACATTGCCCCTCAGGGACT	0.468000													26	505					2.12542e-12	3.5761e-12	0.706142	1	0
AMER1	139285	broad.mit.edu	37	X	63411357	63411357	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:63411357A>T	ENST00000330258.3	-	2	2082	c.1810T>A	c.(1810-1812)Tat>Aat	p.Y604N	AMER1_ENST00000403336.1_Missense_Mutation_p.Y604N|AMER1_ENST00000374869.3_Missense_Mutation_p.Y604N	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCTGCCATAAGCCTCTCGA	0.642000													9	104					0	0	0.335167	0	0
DLX5	1749	broad.mit.edu	37	7	96653652	96653652	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:96653652T>C	ENST00000222598.4	-	1	757	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.Y95C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	95					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGCGTAGCTATAGTCGGCATA	0.607000													8	106					0	0	0.278610	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332481	130332481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:130332481C>A	ENST00000299164.2	+	4	1348	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	450	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCAGTGCGAGCTGGCTTTTGG	0.642000													6	157					5.9392e-07	8.45041e-07	0.217242	1	0
S1PR1	1901	broad.mit.edu	37	1	101705593	101705593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:101705593C>A	ENST00000305352.6	+	2	1428	c.1053C>A	c.(1051-1053)agC>agA	p.S351R		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	351					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGGAATTCAGCCGCAGCAAAT	0.547000													23	261					1.22574e-08	1.86277e-08	0.624587	1	0
SAGE1	55511	broad.mit.edu	37	X	134992285	134992285	+	Missense_Mutation	SNP	A	A	T	rs148235147		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:134992285A>T	ENST00000535938.1	+	15	1987	c.1820A>T	c.(1819-1821)aAt>aTt	p.N607I	SAGE1_ENST00000324447.3_Missense_Mutation_p.N607I|SAGE1_ENST00000370709.3_Missense_Mutation_p.N607I|SAGE1_ENST00000537770.1_Missense_Mutation_p.N231I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	607										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCATTTATTAATATGGCAGCA	0.418000													10	268					0	0	0.361761	0	0
SCN11A	11280	broad.mit.edu	37	3	38938614	38938614	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr3:38938614C>G	ENST00000302328.3	-	14	2323	c.2125G>C	c.(2125-2127)Gtc>Ctc	p.V709L	SCN11A_ENST00000444237.2_Missense_Mutation_p.V709L|SCN11A_ENST00000456224.3_Missense_Mutation_p.V709L|SCN11A_ENST00000450244.1_Missense_Mutation_p.V709L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	709					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)	ATCACAATGACCAGGACCACA	0.473000													6	85					0	0	0.217242	0	0
GBA3	57733	broad.mit.edu	37	4	22749300	22749300	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr4:22749300C>T	ENST00000511446.1	+	0	671				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGTCTCTATCACTTTTTGCG	0.433000													16	317					0	0	0.539581	0	0
PDE6A	5145	broad.mit.edu	37	5	149323768	149323768	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr5:149323768C>T	ENST00000255266.5	-	1	588	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	157	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTACCTCCTCTGTGTTGGGG	0.557000													9	304					0	0	0.361761	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931356	102931356	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:102931356G>C	ENST00000423833.2	-	3	1825	c.600C>G	c.(598-600)taC>taG	p.Y200*	MORF4L2_ENST00000372620.1_Nonsense_Mutation_p.Y82*|MORF4L2_ENST00000441076.2_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000422154.2_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000451301.1_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000360458.1_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000433176.2_Nonsense_Mutation_p.Y200*			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	200					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TCTCAAATTTGTAGAGCAGCT	0.423000													14	151					0	0	0.457914	0	0
GRB7	2886	broad.mit.edu	37	17	37902042	37902042	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:37902042G>C	ENST00000309156.4	+	12	1527		c.e12+1		GRB7_ENST00000445327.2_Splice_Site|GRB7_ENST00000309185.3_Splice_Site|GRB7_ENST00000394211.3_Splice_Site|GRB7_ENST00000394204.1_Splice_Site|GRB7_ENST00000394209.2_Splice_Site	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7						blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCAGTGCAGGTGGGTGACGG	0.637000													4	194					0	0	0.150653	0	0
DENND3	22898	broad.mit.edu	37	8	142185371	142185371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:142185371C>T	ENST00000519811.1	+	14	2418	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	DENND3_ENST00000262585.2_Missense_Mutation_p.A703V|DENND3_ENST00000424248.1_Missense_Mutation_p.A651V			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	703										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGCAGAAGCCCAGGAGGTC	0.478000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	204					0	0	0.278610	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958348	88958348	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:88958348G>T	ENST00000268679.4	-	5	1049	c.653C>A	c.(652-654)tCc>tAc	p.S218Y	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S132Y|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.S142Y|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S193Y|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S132Y	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	218	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTGAAGCTTGGAATGAAACTC	0.597000			T	RUNX1	AML								6	42					0.0293803	0.0312997	0.248553	1	0
F8	2157	broad.mit.edu	37	X	154221273	154221273	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:154221273T>A	ENST00000360256.4	-	4	739	c.539A>T	c.(538-540)cAt>cTt	p.H180L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	180	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.H180R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGGTCCACATGAGAAAGATA	0.458000													14	383					0	0	0.457914	0	0
IRF8	3394	broad.mit.edu	37	16	85954779	85954779	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:85954779T>A	ENST00000268638.5	+	9	1594	c.1172T>A	c.(1171-1173)aTg>aAg	p.M391K	IRF8_ENST00000562492.1_Missense_Mutation_p.M187K	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	391					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCTCTGTGATGCAGGCCCCC	0.552000													7	101					0	0	0.248553	0	0
ZNF160	90338	broad.mit.edu	37	19	53571739	53571739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:53571739C>A	ENST00000601421.1	-	3	2816	c.1940G>T	c.(1939-1941)gGc>gTc	p.G647V	ZNF160_ENST00000599056.1_Missense_Mutation_p.G683V|ZNF160_ENST00000418871.1_Missense_Mutation_p.G683V|ZNF160_ENST00000429604.1_Missense_Mutation_p.G683V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	683					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)		GAAGACCTTGCCACATTGATT	0.433000													14	269					1.49906e-05	1.96781e-05	0.457914	1	0
SLC19A2	10560	broad.mit.edu	37	1	169446397	169446397	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:169446397T>A	ENST00000236137.5	-	2	1039	c.803A>T	c.(802-804)gAa>gTa	p.E268V	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	268					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GCTTACCGGTTCCTCCACGGG	0.478000													17	232					0	0	0.539581	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667315	33667315	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:33667315C>A	ENST00000321505.4	+	16	4782	c.4602C>A	c.(4600-4602)ggC>ggA	p.G1534G	KIAA1549L_ENST00000389726.3_Silent_p.G1540G					KIAA1549-like																		AGGTGAAAGGCCACTCGGAGA	0.577000													6	256					0.00116845	0.00138773	0.217242	1	0
TPK1	27010	broad.mit.edu	37	7	144288615	144288615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:144288615C>A	ENST00000549981.1	-	9	774	c.51G>T	c.(49-51)caG>caT	p.Q17H	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.Q134H|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	134					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATGCCATAATCTGGTCAAAAC	0.438000													7	178					5.18039e-06	6.9509e-06	0.278610	1	0
OR2A2	442361	broad.mit.edu	37	7	143807226	143807226	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:143807226T>A	ENST00000408979.2	+	1	620	c.551T>A	c.(550-552)cTc>cAc	p.L184H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTGTCTGTCCTCAAGCTGGCC	0.512000													12	262					0	0	0.411799	0	0
OR6T1	219874	broad.mit.edu	37	11	123813939	123813939	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:123813939A>G	ENST00000321252.2	-	1	641	c.607T>C	c.(607-609)Tct>Cct	p.S203P		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCAACGTAGAGAGCATGAAA	0.542000													6	146					0	0	0.217242	0	0
FAM26F	441168	broad.mit.edu	37	6	116784478	116784478	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:116784478C>A	ENST00000368605.1	+	3	653	c.558C>A	c.(556-558)atC>atA	p.I186I	FAM26F_ENST00000368606.3_Silent_p.I14I|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	186						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAGTTGTTATCATCATTCTTC	0.353000													16	225					6.49762e-13	1.10642e-12	0.539581	1	0
GAB3	139716	broad.mit.edu	37	X	153928279	153928279	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:153928279C>A	ENST00000369575.3	-	5	1153	c.1122_splice	c.e5+1	p.L374_splice	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Splice_Site_p.L375_splice	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	374										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGAACTTACCAAATTCAAAC	0.378000													9	210					1.12685e-05	1.49308e-05	0.307466	1	0
SLC5A4	6527	broad.mit.edu	37	22	32635034	32635034	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr22:32635034C>T	ENST00000266086.4	-	6	532	c.521G>A	c.(520-522)gGa>gAa	p.G174E	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	174					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGGTCCAATCCCAAGGCCAG	0.448000													6	91					0	0	0.217242	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363000													3	43					0	0	0.115264	0	0
HOXA1	3198	broad.mit.edu	37	7	27134302	27134302	+	Silent	SNP	C	C	A	rs138651027	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:27134302C>A	ENST00000343060.4	-	2	826	c.765G>T	c.(763-765)acG>acT	p.T255T	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	255						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCGGGCGCGCGTCAGGTACT	0.562000													6	239					0.217242	0.22142	0.217242	1	0
COL6A3	1293	broad.mit.edu	37	2	238273009	238273009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:238273009C>A	ENST00000295550.4	-	13	6353	c.5901G>T	c.(5899-5901)gaG>gaT	p.E1967D	COL6A3_ENST00000346358.4_Missense_Mutation_p.E1767D|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1360D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1761D|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1766D|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1761D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1967	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCGGAGGTTCTCAGATGCTC	0.483000													6	107					8.12818e-05	0.000101963	0.248553	1	0
MOB3B	79817	broad.mit.edu	37	9	27455459	27455459	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:27455459C>A	ENST00000262244.5	-	2	514	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	30							metal ion binding|protein binding										CCCGTTTGTGCAGCTCAAACC	0.547000													20	280					1.2644e-06	1.76351e-06	0.592651	1	0
PMFBP1	83449	broad.mit.edu	37	16	72156877	72156877	+	Missense_Mutation	SNP	C	C	G	rs145484256		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:72156877C>G	ENST00000537465.1	-	19	2877	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E757Q|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E902Q|PMFBP1_ENST00000537792.1_Missense_Mutation_p.E68Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	907										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTAGTTTCTCATTGGCGACC	0.532000													12	77					0	0	0.411799	0	0
CPS1	1373	broad.mit.edu	37	2	211512672	211512672	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:211512672T>A	ENST00000233072.5	+	26	3423	c.3227T>A	c.(3226-3228)aTg>aAg	p.M1076K	CPS1_ENST00000451903.2_Missense_Mutation_p.M625K|CPS1_ENST00000430249.2_Missense_Mutation_p.M1082K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1076					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTCAAGATCATGGGCACAAGC	0.517000													7	194					0	0	0.248553	0	0
OR10S1	219873	broad.mit.edu	37	11	123847628	123847628	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:123847628G>T	ENST00000531945.1	-	1	860	c.771C>A	c.(769-771)gcC>gcA	p.A257A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTGAGCTGGGCAGTGCAGG	0.617000													20	160					4.35082e-09	6.75731e-09	0.592651	1	0
PLOD3	8985	broad.mit.edu	37	7	100855185	100855185	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:100855185C>A	ENST00000223127.3	-	11	1572	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	392					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGTCGGCGTCCAGGCTGAAG	0.652000													3	43					0.115264	0.120671	0.115264	1	0
CCDC19	25790	broad.mit.edu	37	1	159860280	159860280	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:159860280G>T	ENST00000426543.2	-	3	462	c.7C>A	c.(7-9)Cga>Aga	p.R3R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.R88R			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	88						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATGAGTTCTCGGACCATGTCC	0.517000													16	227					2.48551e-13	4.26662e-13	0.520397	1	0
MMS22L	253714	broad.mit.edu	37	6	97627327	97627327	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr6:97627327C>T	ENST00000275053.4	-	17	2758	c.2493G>A	c.(2491-2493)ggG>ggA	p.G831G	MMS22L_ENST00000369251.2_Silent_p.G791G	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	831					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATCATCAGGCCCAGAGAGGT	0.393000													7	142					0	0	0.278610	0	0
TEFM	79736	broad.mit.edu	37	17	29227411	29227411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:29227411T>C	ENST00000580840.1	-	3	701	c.665A>G	c.(664-666)cAg>cGg	p.Q222R	TEFM_ENST00000581216.1_Intron			Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	222					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GGTAGGAATCTGGAGGTGCAA	0.408000													12	127					0	0	0.435327	0	0
PAPPA	5069	broad.mit.edu	37	9	118950088	118950088	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr9:118950088G>A	ENST00000328252.3	+	2	1440	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	357	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACCGCGTGGTCAACCTCT	0.547000													5	78					0	0	0.184627	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914523	147914523	+	Missense_Mutation	SNP	C	C	T	rs139930720		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr7:147914523C>T	ENST00000361727.3	+	19	3670	c.3154C>T	c.(3154-3156)Cgc>Tgc	p.R1052C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R111C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1052					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)			GGAGGAGATCCGCTTCAGCTT	0.572000										HNSCC(39;0.1)			6	230					0	0	0.248553	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267908	125267908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr11:125267908C>A	ENST00000298282.9	+	7	809	c.538C>A	c.(538-540)Cta>Ata	p.L180I	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.L116I	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGAATGATCTAGGGGGGCC	0.537000													16	202					3.52763e-06	4.77864e-06	0.520397	1	0
NAV1	89796	broad.mit.edu	37	1	201618285	201618285	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:201618285G>T	ENST00000367296.4	+	1	909	c.489G>T	c.(487-489)ccG>ccT	p.P163P	NAV1_ENST00000367297.4_Silent_p.P163P|NAV1_ENST00000367300.3_Silent_p.P163P|NAV1_ENST00000295624.6_Silent_p.P163P|NAV1_ENST00000367302.1_Silent_p.P176P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	163					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTGGCTCCGCTCGCGCCCA	0.682000													4	59					0.014758	0.016169	0.184627	1	0
KLHL36	79786	broad.mit.edu	37	16	84693368	84693368	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:84693368G>T	ENST00000564996.1	+	4	1281	c.1140G>T	c.(1138-1140)gtG>gtT	p.V380V	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	380										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCCACAGGTGGCCTCCATGA	0.582000													7	203					0.000157383	0.000196266	0.278610	1	0
KCNB2	9312	broad.mit.edu	37	8	73848698	73848698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr8:73848698G>T	ENST00000523207.1	+	3	1696	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	370					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGTATCCCTGCATCATTTTG	0.433000													11	254					0.00829132	0.00937472	0.361761	1	0
PSME4	23198	broad.mit.edu	37	2	54147455	54147455	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:54147455C>A	ENST00000404125.1	-	19	2350	c.2295G>T	c.(2293-2295)ctG>ctT	p.L765L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	765					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGGATTCCCAGATTCCACA	0.443000													9	258					0.0477658	0.0503102	0.307466	1	0
MAP1B	4131	broad.mit.edu	37	5	71493770	71493770	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:71493770T>A	ENST00000296755.7	+	5	4886	c.4588T>A	c.(4588-4590)Tca>Aca	p.S1530T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1530						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)		CTCAGACAAGTCAGCTACTCC	0.463000													10	145					0	0	0.361761	0	0
HRNR	388697	broad.mit.edu	37	1	152193345	152193345	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:152193345A>G	ENST00000368801.2	-	3	835	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	254					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCCAGAGGAGTGACCTGAG	0.542000													40	764					0	0	0.853193	0	0
PSMD3	5709	broad.mit.edu	37	17	38146346	38146346	+	Splice_Site	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:38146346G>A	ENST00000264639.4	+	6	1051		c.e6-1		PSMD3_ENST00000541736.1_Splice_Site	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCACTCCCAGGGCGAATCAA	0.587000													12	121					0	0	0.435327	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363195	22363195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:22363195C>A	ENST00000263160.3	+	2	645	c.208C>A	c.(208-210)Cgc>Agc	p.R70S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	70					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTGCCCCGCCGCTACATTAT	0.632000													8	83					0.0381472	0.0402768	0.278610	1	0
LYST	1130	broad.mit.edu	37	1	235956906	235956906	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:235956906T>G	ENST00000389794.3	-	11	4187	c.4013A>C	c.(4012-4014)cAg>cCg	p.Q1338P	LYST_ENST00000389793.2_Missense_Mutation_p.Q1338P|LYST_ENST00000536965.1_Missense_Mutation_p.Q1338P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1338					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATACTCTCTGGCATGCTAA	0.338000													8	97					0	0	0.278610	0	0
TTLL7	79739	broad.mit.edu	37	1	84399357	84399357	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:84399357A>T	ENST00000260505.8	-	9	1358	c.981T>A	c.(979-981)agT>agA	p.S327R	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	327	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAAAGCAGACACTTTCGCTTC	0.418000													6	208					0	0	0.278610	0	0
DGKI	9162	broad.mit.edu	37	7	137170120	137170120	+	Splice_Site	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:137170120C>T	ENST00000453654.1	-	24	2066	c.1527_splice	c.e24+1	p.Q509_splice	DGKI_ENST00000288490.5_Splice_Site_p.Q809_splice|DGKI_ENST00000424189.2_Splice_Site_p.Q812_splice|DGKI_ENST00000446122.1_Splice_Site_p.Q791_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	809					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TATTTGTTACCTGGTAATGAA	0.348000													5	37					0	0	0.217242	0	0
MAP7	9053	broad.mit.edu	37	6	136687481	136687481	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:136687481C>G	ENST00000354570.3	-	9	1383	c.973G>C	c.(973-975)Gct>Cct	p.A325P	MAP7_ENST00000544465.1_Missense_Mutation_p.A310P|MAP7_ENST00000438100.2_Missense_Mutation_p.A310P|MAP7_ENST00000454590.1_Missense_Mutation_p.A347P|MAP7_ENST00000432797.2_Missense_Mutation_p.A179P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	325	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CGGGAGCGAGCTGGTTGTCTT	0.433000													7	120					0	0	0.307466	0	0
TENM1	10178	broad.mit.edu	37	X	124097566	124097566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:124097566G>T	ENST00000422452.2	-	1	100	c.37C>A	c.(37-39)Cca>Aca	p.P13T	TENM1_ENST00000371130.3_Missense_Mutation_p.P13T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGACTTTTGGTAGAGGCTGG	0.433000													22	376					2.89027e-11	4.7444e-11	0.624587	1	0
TLR10	81793	broad.mit.edu	37	4	38774783	38774783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:38774783C>A	ENST00000308973.4	-	4	3034	c.2429G>T	c.(2428-2430)tGt>tTt	p.C810F	TLR10_ENST00000508334.1_Missense_Mutation_p.C810F|TLR10_ENST00000506111.1_Missense_Mutation_p.C810F|TLR10_ENST00000361424.2_Missense_Mutation_p.C810F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	810					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTTTATAGACAATCTGTTCT	0.378000													10	136					7.03913e-09	1.05224e-08	0.411799	1	0
SHANK1	50944	broad.mit.edu	37	19	51219652	51219652	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:51219652A>G	ENST00000293441.1	-	2	357	c.339T>C	c.(337-339)gaT>gaC	p.D113D	SHANK1_ENST00000359082.3_Silent_p.D113D|SHANK1_ENST00000391814.1_Silent_p.D113D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	113					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTTGAGCACATCCTGCAGGC	0.612000													6	119					0	0	0.217242	0	0
ALMS1	7840	broad.mit.edu	37	2	73679094	73679094	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:73679094G>A	ENST00000264448.6	+	8	5548	c.5437G>A	c.(5437-5439)Gtt>Att	p.V1813I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V1813I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1771I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1813	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGCCCATTGTTTCCTACCA	0.463000													10	363					0	0	0.361761	0	0
PCDH17	27253	broad.mit.edu	37	13	58298893	58298893	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:58298893T>C	ENST00000377918.3	+	4	2971	c.2945T>C	c.(2944-2946)gTt>gCt	p.V982A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	982					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGCTAATGTTGAGACTGAG	0.438000													5	112					0	0	0.184627	0	0
GPR156	165829	broad.mit.edu	37	3	119886715	119886715	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:119886715G>T	ENST00000464295.1	-	10	2054	c.1609C>A	c.(1609-1611)Cgg>Agg	p.R537R	GPR156_ENST00000461057.1_Silent_p.R533R|GPR156_ENST00000315843.3_Silent_p.R537R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	537						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CGTGACCGCCGCTCTGGGGGC	0.597000													32	459					2.20474e-14	3.79075e-14	0.788014	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587497	43587497	+	RNA	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:43587497T>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							ttgaacctggtaagtggaggt	0.483000													3	18					0	0	0.115264	0	0
ZNF438	220929	broad.mit.edu	37	10	31134354	31134354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:31134354C>A	ENST00000538351.1	-	8	2630	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	ZNF438_ENST00000442986.1_Nonsense_Mutation_p.E675*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.E665*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.E675*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.E239*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.E675*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.E665*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.E675*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.E665*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGCCTGCCCTCAATTTCCTCT	0.468000													8	246					2.17888e-05	2.77138e-05	0.335167	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	53					3.59834e-05	4.55022e-05	0.217242	1	0
ATRX	546	broad.mit.edu	37	X	76939420	76939420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:76939420G>T	ENST00000373344.5	-	9	1542	c.1328C>A	c.(1327-1329)gCa>gAa	p.A443E	ATRX_ENST00000395603.3_Missense_Mutation_p.A405E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	443					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTTTTCGTGCTTTTGTTTC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	371					1.58986e-06	2.15449e-06	0.361761	1	0
MBTPS2	51360	broad.mit.edu	37	X	21887738	21887738	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:21887738C>T	ENST00000365779.2	+	7	993	c.912C>T	c.(910-912)ccC>ccT	p.P304P	MBTPS2_ENST00000379484.5_Silent_p.P304P			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	304	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCTATGAGCCCCAAATTGGTT	0.398000													11	205					0	0	0.411799	0	0
BAGE2	85319	broad.mit.edu	37	21	11038784	11038784	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr21:11038784C>A	ENST00000470054.1	-	0	1419									B melanoma antigen family, member 2															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)		GCTGGTTTACCCATGCCAGTT	0.408000													6	301					0.00116845	0.00137744	0.217242	1	0
GFAP	2670	broad.mit.edu	37	17	42992452	42992452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:42992452C>A	ENST00000253408.5	-	1	468	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.A135S|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A135S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	135	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCCAGCCGGGCGCTGTTGGCG	0.652000													6	91					0.00116845	0.00137744	0.217242	1	0
RSBN1	54665	broad.mit.edu	37	1	114354882	114354882	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:114354882C>A	ENST00000261441.5	-	1	216	c.153G>T	c.(151-153)gcG>gcT	p.A51A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	51						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCGACCTGCGCAGCCATTT	0.687000													22	279					1.04121e-07	1.49976e-07	0.693898	1	0
GABRG2	2566	broad.mit.edu	37	5	161520952	161520952	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:161520952G>A	ENST00000356592.3	+	2	686	c.226G>A	c.(226-228)Gga>Aga	p.G76R	GABRG2_ENST00000361925.4_Missense_Mutation_p.G76R|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.G76R	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	76					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTGCTGGAAGGATATGACAA	0.373000													5	221					0	0	0.217242	0	0
PTPRT	11122	broad.mit.edu	37	20	40739110	40739110	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:40739110G>T	ENST00000373198.3	-	24	3418	c.3183C>A	c.(3181-3183)atC>atA	p.I1061I	PTPRT_ENST00000373190.1_Silent_p.I1038I|PTPRT_ENST00000373201.1_Silent_p.I1029I|PTPRT_ENST00000356100.2_Silent_p.I1048I|PTPRT_ENST00000373184.1_Silent_p.I1049I|PTPRT_ENST00000373193.3_Silent_p.I1042I|PTPRT_ENST00000373187.1_Silent_p.I1039I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1039	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)				GGAGCTCCCGGATCTCATGGT	0.607000													4	115					0.150653	0.156034	0.150653	1	0
ARPC5	10092	broad.mit.edu	37	1	183596670	183596670	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:183596670C>T	ENST00000359856.6	-	4	519	c.453G>A	c.(451-453)gtG>gtA	p.V151V	ARPC5_ENST00000294742.6_Silent_p.V154V|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Intron	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	151					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TGCCAGACTACACAGTTTTTC	0.458000													14	356					0	0	0.500413	0	0
AMER1	139285	broad.mit.edu	37	X	63411911	63411911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:63411911G>T	ENST00000330258.3	-	2	1528	c.1256C>A	c.(1255-1257)cCc>cAc	p.P419H	AMER1_ENST00000374869.3_Missense_Mutation_p.P419H|AMER1_ENST00000403336.1_Missense_Mutation_p.P419H	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GTTCATATTGGGCCGTGGATA	0.522000													10	161					2.17888e-05	2.77138e-05	0.335167	1	0
TRIO	7204	broad.mit.edu	37	5	14463026	14463026	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:14463026G>A	ENST00000344204.4	+	36	5683	c.5659G>A	c.(5659-5661)Gat>Aat	p.D1887N	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.D1887N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1887					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACTCACAGGATGACAAGGT	0.647000													5	89					0	0	0.184627	0	0
SNW1	22938	broad.mit.edu	37	14	78184788	78184788	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:78184788T>C	ENST00000261531.7	-	13	1396	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	SNW1_ENST00000554775.1_Missense_Mutation_p.Q283R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.Q445R|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	445					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATAAATACTCTGGGCCATATC	0.418000													8	130					0	0	0.278610	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121864	90121864	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:90121864C>A	ENST00000483379.1	+	0	263																											CCAGATGACCCAGTCTCCATC	0.438000													30	441					1.30988e-24	2.3257e-24	0.750413	1	0
AMHR2	269	broad.mit.edu	37	12	53819286	53819286	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:53819286G>A	ENST00000257863.4	+	5	630	c.550G>A	c.(550-552)Gag>Aag	p.E184K	AMHR2_ENST00000379791.3_Missense_Mutation_p.E184K|AMHR2_ENST00000550311.1_Missense_Mutation_p.E184K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	184					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCAGTGCCAGAGCCAAGGCC	0.592000													10	132					0	0	0.361761	0	0
UTRN	7402	broad.mit.edu	37	6	144795842	144795842	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:144795842G>T	ENST00000367545.3	+	24	3283	c.3283G>T	c.(3283-3285)Gtg>Ttg	p.V1095L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1095					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAAACTTGGGTGCAGACAAG	0.373000													9	141					0.000442599	0.000531853	0.335167	1	0
FAM49B	51571	broad.mit.edu	37	8	130867918	130867918	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:130867918T>A	ENST00000519824.2	-	6	650	c.377A>T	c.(376-378)cAg>cTg	p.Q126L	FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.Q126L|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000517654.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000519540.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000519110.1_Missense_Mutation_p.Q126L|FAM49B_ENST00000522746.1_Missense_Mutation_p.Q126L	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	126										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AGCAAGAGCCTGCTCTCGCTC	0.398000													4	130					0	0	0.150653	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558493	140558493	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:140558493T>C	ENST00000239444.2	+	1	1123	c.878T>C	c.(877-879)tTt>tCt	p.F293S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		293	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAAAACTTTTAAGGTCGAT	0.408000													10	368					0	0	0.361761	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969364	140969364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:140969364G>T	ENST00000298296.1	+	4	691	c.691G>T	c.(691-693)Gag>Tag	p.E231*	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGCCCGTGAGTTCATAGA	0.443000													14	376					9.31168e-06	1.22745e-05	0.435327	1	0
WNK3	65267	broad.mit.edu	37	X	54263729	54263729	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:54263729C>T	ENST00000354646.2	-	20	4708	c.4270G>A	c.(4270-4272)Gca>Aca	p.A1424T	WNK3_ENST00000375159.2_Missense_Mutation_p.A1424T|WNK3_ENST00000375169.3_Missense_Mutation_p.A1377T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1377					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCACAAGCTGCGCTGAAAGAT	0.403000													4	110					0	0	0.150653	0	0
POLA1	5422	broad.mit.edu	37	X	24948614	24948614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:24948614C>A	ENST00000379068.3	+	36	4252	c.4209C>A	c.(4207-4209)taC>taA	p.Y1403*	POLA1_ENST00000379059.3_Nonsense_Mutation_p.Y1397*			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1397					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTTACCGGTACATTTTTGATG	0.403000													7	93					0.00307968	0.00353472	0.278610	1	0
IGSF10	285313	broad.mit.edu	37	3	151163918	151163918	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:151163918G>A	ENST00000282466.3	-	4	3850	c.3851C>T	c.(3850-3852)cCa>cTa	p.P1284L		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	1284					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)			CTTCTTTGTTGGAAGACTTCC	0.423000													11	220					0	0	0.361761	0	0
PANK1	53354	broad.mit.edu	37	10	91353634	91353634	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:91353634C>A	ENST00000307534.4	-	4	1578	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	PANK1_ENST00000342512.3_Missense_Mutation_p.V250L|PANK1_ENST00000371774.2_Missense_Mutation_p.V277L|PANK1_ENST00000322191.6_Intron	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	475					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	ATGTCCTTCACCAGTTTATCA	0.443000													10	368					1.08611e-07	1.54904e-07	0.387290	1	0
ZNF831	128611	broad.mit.edu	37	20	57766108	57766108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:57766108C>A	ENST00000371030.2	+	1	34	c.34C>A	c.(34-36)Cct>Act	p.P12T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	12	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTGCCCCTCCTGCGAGGGA	0.637000													8	108					1.06961e-07	1.53053e-07	0.278610	1	0
WISP2	8839	broad.mit.edu	37	20	43355750	43355750	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:43355750C>G	ENST00000372865.4	+	3	816	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.V185V|WISP2_ENST00000190983.4_Silent_p.V185V|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	98	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGGCCTTGTCTCTTCCCTGC	0.647000													9	195					0	0	0.361761	0	0
GLRA4	441509	broad.mit.edu	37	X	102977173	102977173	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:102977173G>A	ENST00000372617.4	-	6	1045	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	209						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGACAGCAGGAGCATCTTCC	0.527000													30	544					0	0	0.760397	0	0
L1CAM	3897	broad.mit.edu	37	X	153129866	153129866	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153129866C>A	ENST00000370060.1	-	25	3422	c.3233G>T	c.(3232-3234)tGg>tTg	p.W1078L	L1CAM_ENST00000370055.1_Missense_Mutation_p.W1073L|L1CAM_ENST00000361981.3_Missense_Mutation_p.W1073L|L1CAM_ENST00000543994.1_Missense_Mutation_p.W1080L|L1CAM_ENST00000538883.1_Missense_Mutation_p.W1080L|L1CAM_ENST00000370057.3_Missense_Mutation_p.W1078L|L1CAM_ENST00000361699.4_Missense_Mutation_p.W1078L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1078	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGGTCCCACTGCGTGTA	0.577000													18	375					1.96292e-10	3.16249e-10	0.592651	1	0
OR4C12	283093	broad.mit.edu	37	11	50003969	50003969	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:50003969T>A	ENST00000335238.4	-	1	102	c.69A>T	c.(67-69)aaA>aaT	p.K23N		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CAAACGTGACTTTCTCCATTA	0.413000													9	125					0	0	0.335167	0	0
CPNE8	144402	broad.mit.edu	37	12	39079407	39079407	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:39079407G>T	ENST00000331366.5	-	16	1252	c.1156C>A	c.(1156-1158)Caa>Aaa	p.Q386K	CPNE8_ENST00000360449.3_Missense_Mutation_p.Q374K|CPNE8_ENST00000538596.2_Missense_Mutation_p.Q55K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	386	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TAGGGGTTTTGAGGATTCCCA	0.378000													11	167					7.03913e-09	1.05224e-08	0.411799	1	0
ESPNP	284729	broad.mit.edu	37	1	17029462	17029462	+	RNA	SNP	A	A	G	rs11260891	by1000genomes	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:17029462A>G	ENST00000492551.1	-	0	903					NR_026567.1																						CTAGTGCTGGAAAGCCCTGGG	0.577000													13	41					0	0	0.457914	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171661	4171661	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:4171661A>T	ENST00000078445.2	+	10	1228	c.1081A>T	c.(1081-1083)Aga>Tga	p.R361*	CREB3L3_ENST00000252587.3_Silent_p.P249P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.Q325L|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R359*|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R360*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	361					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGTTCTCCAGAACTTTGCA	0.642000													15	255					0	0	0.500413	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047002	55047002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:55047002G>T	ENST00000335056.3	+	4	585	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CTTTTCCATGGGTCCTGTAAC	0.537000													16	133					0.146539	0.152865	0.500413	1	0
TRPV3	162514	broad.mit.edu	37	17	3424291	3424291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:3424291C>A	ENST00000301365.4	-	14	1917	c.1786G>T	c.(1786-1788)Gtg>Ttg	p.V596L	TRPV3_ENST00000576742.1_Missense_Mutation_p.V596L|TRPV3_ENST00000572519.1_Missense_Mutation_p.V596L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	596						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCAAAAACACGATATATACA	0.328000													5	85					4.096e-09	6.25179e-09	0.217242	1	0
SMOC1	64093	broad.mit.edu	37	14	70477560	70477560	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:70477560G>T	ENST00000381280.4	+	8	1007	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	SMOC1_ENST00000361956.3_Missense_Mutation_p.A252S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	252	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCCTGAATGTGCCCCTGGGGG	0.592000													14	222					7.93312e-07	1.09902e-06	0.457914	1	0
UNC13A	23025	broad.mit.edu	37	19	17728564	17728564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:17728564G>T	ENST00000428389.2	-	42	4768	c.4769C>A	c.(4768-4770)aCg>aAg	p.T1590K	UNC13A_ENST00000519716.2_Missense_Mutation_p.T1502K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1477K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1502K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1502K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1475K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1502	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTGGCCTGCGTGTAGAGCGA	0.607000													14	225					1.5842e-08	2.34397e-08	0.435327	1	0
MUC17	140453	broad.mit.edu	37	7	100676134	100676134	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:100676134C>T	ENST00000306151.4	+	3	1501	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	479	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAAAACTCAGG	0.488000													52	806					0	0	0.870114	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858788	149858788	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:149858788C>T	ENST00000331380.2	+	1	264	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	88					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCTGGCCATCCGCAACGACG	0.602000													6	258					0	0	0.248553	0	0
C8orf33	65265	broad.mit.edu	37	8	146278688	146278688	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:146278688C>A	ENST00000331434.6	+	4	523	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	137										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CGCAGAAGAGCAGGCTATTGG	0.522000													6	297					5.68852e-11	9.30266e-11	0.307466	1	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													7	744					0	0	0.248553	0	0
TRPM1	4308	broad.mit.edu	37	15	31324990	31324990	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:31324990T>C	ENST00000542188.1	-	21	3218	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V	TRPM1_ENST00000397795.2_Missense_Mutation_p.I930V|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.I952V|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	930					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACACAGTAGATCACCCGGCCA	0.483000													8	157					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617770	77617770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:77617770G>C	ENST00000521891.2	+	2	1895	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D483H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D483H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D483H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAATGAACTTGATGACGAGGA	0.433000										HNSCC(33;0.089)			3	59					0	0	0.115264	0	0
PARP14	54625	broad.mit.edu	37	3	122422688	122422688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:122422688G>A	ENST00000474629.2	+	7	3447	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1061	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCTCCAGGAGGAATTGGACAC	0.532000													5	141					0	0	0.184627	0	0
LRRC7	57554	broad.mit.edu	37	1	70504985	70504985	+	Missense_Mutation	SNP	G	G	A	rs144289156		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:70504985G>A	ENST00000310961.5	+	22	3797	c.3379G>A	c.(3379-3381)Gcc>Acc	p.A1127T	LRRC7_ENST00000415775.2_Missense_Mutation_p.A406T|LRRC7_ENST00000035383.5_Missense_Mutation_p.A1122T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1122						centrosome|focal adhesion|nucleolus	protein binding	p.A1122T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTGGTGAGCGCCACAGAAAT	0.587000													11	283					0	0	0.435327	0	0
LACE1	246269	broad.mit.edu	37	6	108843559	108843559	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:108843559C>T	ENST00000368977.4	+	13	1563	c.1377C>T	c.(1375-1377)cgC>cgT	p.R459R		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	459							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CATTTCAGCGCACAATTTCCC	0.388000													5	104					0	0	0.217242	0	0
DHX38	9785	broad.mit.edu	37	16	72133735	72133735	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:72133735G>T	ENST00000268482.3	+	8	1574	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	355					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCAGCACCTGCATAAACAGA	0.567000											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					1.23904e-05	1.61857e-05	0.184627	1	0
DHCR7	1717	broad.mit.edu	37	11	71152274	71152274	+	Splice_Site	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:71152274A>T	ENST00000355527.3	-	6	901	c.626_splice	c.e6+1	p.C209_splice	DHCR7_ENST00000407721.2_Splice_Site_p.C209_splice	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGAACATACCAGTCTCTGGCG	0.572000									Smith-Lemli-Opitz syndrome				5	126					0	0	0.248553	0	0
CARD6	84674	broad.mit.edu	37	5	40843362	40843362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:40843362C>T	ENST00000254691.5	+	2	591	c.392C>T	c.(391-393)aCa>aTa	p.T131I	CARD6_ENST00000381677.3_Missense_Mutation_p.T131I	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	131					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTGAGATCACAGTGTTCTTC	0.428000													7	117					0	0	0.248553	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018847	245018847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:245018847C>A	ENST00000444376.2	-	12	2408	c.2174G>T	c.(2173-2175)gGa>gTa	p.G725V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G744V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	744	Gly-rich.|RNA-binding RGG-box.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ACCACTTCCTCCACCGCCACC	0.507000													16	167					0.00498961	0.00565229	0.520397	1	0
OR4S2	219431	broad.mit.edu	37	11	55418853	55418853	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:55418853G>T	ENST00000312422.2	+	1	474	c.474G>T	c.(472-474)gtG>gtT	p.V158V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTATCCAAGTGGCTCTGGTAG	0.433000													10	389					4.68919e-08	6.82206e-08	0.361761	1	0
PROL1	58503	broad.mit.edu	37	4	71275371	71275371	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:71275371T>C	ENST00000399575.2	+	3	500	c.326T>C	c.(325-327)cTa>cCa	p.L109P	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	109	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATTTCCCACTAAGACCTTAC	0.403000													11	385					0	0	0.387290	0	0
DCAF8	50717	broad.mit.edu	37	1	160213786	160213786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:160213786C>A	ENST00000368073.3	-	3	447	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	DCAF8_ENST00000556710.1_Missense_Mutation_p.G159W|DCAF8_ENST00000326837.2_Missense_Mutation_p.G5W|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.G5W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	5						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTGCTGCTCCCTTTGCTGGAC	0.458000													6	313					5.18039e-06	6.87034e-06	0.278610	1	0
GABRA3	2556	broad.mit.edu	37	X	151358389	151358389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:151358389G>T	ENST00000370314.4	-	9	1194	c.956C>A	c.(955-957)aCc>aAc	p.T319N	GABRA3_ENST00000370311.1_Missense_Mutation_p.T319N|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.T319N	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	319					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCAAGGTGGTCATGGTAAG	0.448000													5	97					0.0293803	0.031248	0.248553	1	0
NDRG1	10397	broad.mit.edu	37	8	134274312	134274312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:134274312C>A	ENST00000414097.2	-	5	1171	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G102C|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.G36C|NDRG1_ENST00000537882.1_Missense_Mutation_p.G21C|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	102					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGGCTGCGCCGTCCTGCTGG	0.602000			T	ERG	prostate								9	191					4.68919e-08	6.82206e-08	0.361761	1	0
TRPM8	79054	broad.mit.edu	37	2	234851343	234851343	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:234851343G>T	ENST00000324695.4	+	6	690	c.650G>T	c.(649-651)tGg>tTg	p.W217L	TRPM8_ENST00000355722.4_Missense_Mutation_p.W167L|TRPM8_ENST00000409625.1_Missense_Mutation_p.W140L|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	217						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATAGCAGCTTGGGGCATGGTC	0.532000													5	191					0.00116845	0.00137744	0.217242	1	0
TCEAL6	158931	broad.mit.edu	37	X	101395904	101395904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:101395904G>T	ENST00000372774.3	-	3	649	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	TCEAL6_ENST00000372773.1_Missense_Mutation_p.L134M	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCACTGCTCAGATGCCTTTCC	0.498000													16	213					1.56452e-12	2.61757e-12	0.557998	1	0
CUBN	8029	broad.mit.edu	37	10	16930566	16930566	+	Splice_Site	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:16930566C>T	ENST00000377833.4	-	56	8821		c.e56-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCACATCCTATGTGGGAA	0.358000													17	196					0	0	0.592651	0	0
BBS10	79738	broad.mit.edu	37	12	76741438	76741438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:76741438C>A	ENST00000393262.3	-	2	410	c.327G>T	c.(325-327)atG>atT	p.M109I		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	109					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGTTTTCACACATCAAAGGAT	0.373000									Bardet-Biedl syndrome				10	175					4.36969e-10	6.93728e-10	0.435327	1	0
OR4C11	219429	broad.mit.edu	37	11	55371392	55371392	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:55371392T>A	ENST00000302231.4	-	1	482	c.458A>T	c.(457-459)cAc>cTc	p.H153L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGCTGTAGAGTGTATTAAAGA	0.463000													5	157					0	0	0.184627	0	0
USP28	57646	broad.mit.edu	37	11	113704163	113704163	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:113704163G>C	ENST00000003302.4	-	7	806	c.738C>G	c.(736-738)ttC>ttG	p.F246L	USP28_ENST00000537706.1_Missense_Mutation_p.F246L|USP28_ENST00000545540.1_Missense_Mutation_p.F121L|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Missense_Mutation_p.F246L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	246					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGATGATCGGAATGCTCCCT	0.418000													6	212					0	0	0.217242	0	0
OR4C13	283092	broad.mit.edu	37	11	49974148	49974148	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:49974148C>G	ENST00000555099.1	+	1	206	c.174C>G	c.(172-174)taC>taG	p.Y58*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	58					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						CCCCCATGTACTTTTTCCTGG	0.423000													16	420					0	0	0.575678	0	0
TOP3A	7156	broad.mit.edu	37	17	18188778	18188778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:18188778C>A	ENST00000321105.5	-	14	1868	c.1654G>T	c.(1654-1656)Ggc>Tgc	p.G552C	TOP3A_ENST00000542570.1_Missense_Mutation_p.G457C|TOP3A_ENST00000540524.1_Missense_Mutation_p.G82C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	552					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGTGAGGCCCACGTACATC	0.582000													7	84					0.000274275	0.000332339	0.307466	1	0
STK11	6794	broad.mit.edu	37	19	1220649	1220649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:1220649G>T	ENST00000326873.7	+	5	1840	c.667G>T	c.(667-669)Gag>Tag	p.E223*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	223	Protein kinase.		E -> V (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.E223*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCGCCCGAGATTGCCAA	0.697000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	50					0.0215528	0.0233802	0.217242	1	0
HCFC1	3054	broad.mit.edu	37	X	153222928	153222928	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153222928G>T	ENST00000310441.7	-	13	3156	c.2190C>A	c.(2188-2190)ggC>ggA	p.G730G	HCFC1_ENST00000369984.4_Silent_p.G730G|HCFC1_ENST00000354233.3_Silent_p.G661G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	730					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGGCTTGCCATCTGCTG	0.637000													6	205					5.9392e-07	8.30724e-07	0.217242	1	0
RANBP6	26953	broad.mit.edu	37	9	6015088	6015088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:6015088C>A	ENST00000259569.5	-	1	530	c.520G>T	c.(520-522)Gag>Tag	p.E174*	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	174					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATGCCGCTCTTGGGTCCCA	0.433000													4	92					0.0215528	0.0233802	0.217242	1	0
TCN1	6947	broad.mit.edu	37	11	59629097	59629097	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:59629097G>T	ENST00000257264.3	-	4	563	c.459C>A	c.(457-459)gcC>gcA	p.A153A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	153					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)	ACAGACACAAGGCCAAAACGT	0.443000													22	218					1.10923e-09	1.72945e-09	0.639603	1	0
FAN1	22909	broad.mit.edu	37	15	31206216	31206216	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:31206216A>T	ENST00000362065.4	+	5	2024	c.1733A>T	c.(1732-1734)aAc>aTc	p.N578I		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	578					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGTTGGTCAACCTCGGCCGA	0.468000								Direct reversal of damage					6	129					0	0	0.248553	0	0
KCNA4	3739	broad.mit.edu	37	11	30033415	30033415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:30033415C>T	ENST00000328224.6	-	2	2044	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	271						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCTCGTCCTCCCGAAACTTC	0.517000													6	172					0	0	0.217242	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342281	60342281	+	RNA	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:60342281T>A	ENST00000581291.1	-	0	1872																				breast(2)|kidney(1)|lung(2)	5						TAATACATTCTCATAAGTTTA	0.488000													12	175					0	0	0.387290	0	0
ZFX	7543	broad.mit.edu	37	X	24229383	24229383	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:24229383C>G	ENST00000379177.1	+	11	2735	c.2308C>G	c.(2308-2310)Cac>Gac	p.H770D	ZFX_ENST00000540034.1_Missense_Mutation_p.H809D|ZFX_ENST00000539115.1_Missense_Mutation_p.H541D|ZFX_ENST00000304543.5_Missense_Mutation_p.H770D|ZFX_ENST00000379188.3_Missense_Mutation_p.H770D|ZFX_ENST00000338565.3_Missense_Mutation_p.H720D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TATTTCCATTCACACGAAAGA	0.448000													19	293					0	0	0.539581	0	0
CACNA1D	776	broad.mit.edu	37	3	53699686	53699686	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:53699686G>T	ENST00000288139.3	+	6	884		c.e6-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTCTTTCCTAGGTTTACAAGT	0.353000													10	175					4.68919e-08	6.82206e-08	0.361761	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	21					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11592915	11592915	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:11592915A>G	ENST00000262442.3	+	20	3844	c.3776A>G	c.(3775-3777)gAt>gGt	p.D1259G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1259G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1259	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAATGCTGGATGCCAGGCAC	0.483000													6	237					0	0	0.217242	0	0
DCLK1	9201	broad.mit.edu	37	13	36401848	36401848	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:36401848T>G	ENST00000255448.4	-	10	1542	c.1331A>C	c.(1330-1332)aAg>aCg	p.K444T	DCLK1_ENST00000360631.3_Missense_Mutation_p.K444T|DCLK1_ENST00000379893.1_Missense_Mutation_p.K137T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	444	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATTGGGATGCTTCACTCTTCT	0.383000													6	180					0	0	0.217242	0	0
PCDH15	65217	broad.mit.edu	37	10	55582432	55582432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:55582432G>T	ENST00000361849.3	-	34	5454	c.5060C>A	c.(5059-5061)tCa>tAa	p.S1687*	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S1616*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.S1685*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S1662*|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S1645*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S1682*|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1685					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)				ATTAGGTTCTGATTTGAGTTC	0.433000										HNSCC(58;0.16)			5	160					0.217242	0.221312	0.217242	1	0
OR4F6	390648	broad.mit.edu	37	15	102346217	102346217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:102346217G>T	ENST00000328882.4	+	1	316	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGGCTGTGTAGTTCAGATCTT	0.453000													12	379					7.03913e-09	1.05224e-08	0.411799	1	0
VIPR2	7434	broad.mit.edu	37	7	158827313	158827313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:158827313G>T	ENST00000262178.2	-	9	1023	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	VIPR2_ENST00000377633.3_Missense_Mutation_p.P264T|VIPR2_ENST00000402066.1_Missense_Mutation_p.P421T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	280					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ACCCACCAGGGCACACTGTGG	0.478000													6	81					3.09899e-07	4.39107e-07	0.307466	1	0
TNS3	64759	broad.mit.edu	37	7	47342631	47342631	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:47342631T>A	ENST00000398879.1	-	22	3740	c.3374A>T	c.(3373-3375)cAc>cTc	p.H1125L	TNS3_ENST00000355730.3_Missense_Mutation_p.H885L|TNS3_ENST00000311160.9_Missense_Mutation_p.H1125L			Q68CZ2	TENS3_HUMAN	tensin 3	1125						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTCCCGCTGTGCGGGCTGGA	0.622000													4	165					0	0	0.150653	0	0
HPR	3250	broad.mit.edu	37	16	72110738	72110738	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:72110738C>G	ENST00000540303.2	+	5	837	c.805C>G	c.(805-807)Cct>Gct	p.P269A	HPR_ENST00000356967.5_Missense_Mutation_p.P269A|HPR_ENST00000228226.8_Missense_Mutation_p.P306A|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	269	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ACCGAAGAGCCCTGTAGGGGT	0.532000													9	165					0	0	0.387290	0	0
PINX1	54984	broad.mit.edu	37	8	10623272	10623272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:10623272C>A	ENST00000314787.3	-	7	745	c.626G>T	c.(625-627)cGt>cTt	p.R209L	SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CCCCCTTTTACGTTCCACCTG	0.522000													14	441					1.49906e-05	1.94654e-05	0.457914	1	0
PDE6C	5146	broad.mit.edu	37	10	95399926	95399926	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:95399926C>G	ENST00000371447.3	+	12	1720	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	528					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGAATACGACTGTTTTTTGA	0.423000													12	208					0	0	0.387290	0	0
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													4	317					0	0	0.278610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564301	176564301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:176564301G>T	ENST00000367662.3	+	3	2725	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.G521*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	521	Metalloprotease.				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						GCCCCTTCGGGGAGAGAAGGT	0.537000													9	91					0.000442599	0.000531853	0.335167	1	0
OR4L1	122742	broad.mit.edu	37	14	20528678	20528678	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:20528678C>A	ENST00000315683.1	+	1	475	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTCCATAAGCCAGATAGTTTT	0.393000													14	254					0.0285812	0.0309274	0.500413	1	0
TRBV19	28568	broad.mit.edu	37	7	142326854	142326854	+	RNA	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:142326854T>C	ENST00000390393.3	+	0	360																											CACGATGCCATGTACTGGTAC	0.473000													18	337					0	0	0.557998	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966915	41966915	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:41966915C>T	ENST00000298919.7	+	10	1942	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A	PDZRN4_ENST00000539469.2_Silent_p.A520A|PDZRN4_ENST00000402685.2_Silent_p.A778A			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	778							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATGGCAGCCACCCAGTCCT	0.512000													12	294					0	0	0.435327	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	92					0	0	0.150653	0	0
LPHN2	23266	broad.mit.edu	37	1	82434975	82434975	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:82434975A>G	ENST00000370728.1	+	17	3270	c.2625A>G	c.(2623-2625)ctA>ctG	p.L875L	LPHN2_ENST00000370730.1_Silent_p.L875L|LPHN2_ENST00000370715.1_Silent_p.L862L|LPHN2_ENST00000271029.4_Silent_p.L875L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.L862L|LPHN2_ENST00000394879.1_Silent_p.L862L|LPHN2_ENST00000370721.1_Silent_p.L800L|LPHN2_ENST00000370723.1_Silent_p.L862L|LPHN2_ENST00000370725.1_Silent_p.L875L|LPHN2_ENST00000370713.1_Silent_p.L862L|LPHN2_ENST00000370727.1_Silent_p.L875L|LPHN2_ENST00000359929.3_Silent_p.L862L|LPHN2_ENST00000370717.2_Silent_p.L875L|LPHN2_ENST00000335786.5_Silent_p.L875L			O95490	LPHN2_HUMAN	latrophilin 2	875					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)		TCCGTGGCCTACAGAGTGACC	0.388000													14	287					0	0	0.500413	0	0
CPSF3	51692	broad.mit.edu	37	2	9593040	9593040	+	Splice_Site	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:9593040A>G	ENST00000460593.1	+	12	2422		c.e12-1		CPSF3_ENST00000238112.3_Splice_Site			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTTTTTTACAGGTTATGGGA	0.333000													5	63					0	0	0.217242	0	0
GP6	51206	broad.mit.edu	37	19	55530019	55530019	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:55530019C>A	ENST00000310373.3	-	6	752		c.e6+1		CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Splice_Site|GP6_ENST00000333884.2_Splice_Site|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGGTTACTCACCAGTTGTGAA	0.463000													12	142					2.61681e-11	4.32819e-11	0.457914	1	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:88123744G>T	ENST00000327946.7	-	2	274	c.189C>A	c.(187-189)tcC>tcA	p.S63S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)			7	155					1.06961e-07	1.53053e-07	0.278610	1	0
OR2G2	81470	broad.mit.edu	37	1	247752595	247752595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:247752595C>A	ENST00000320065.1	+	1	934	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			AGCAAAGGCTCTGGGAGtaaa	0.323000													8	120					1.12685e-05	1.47645e-05	0.307466	1	0
KDM5B	10765	broad.mit.edu	37	1	202699041	202699041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:202699041G>A	ENST00000367265.3	-	26	5455	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1431					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTGGGGGTCCGCATTTTCTTA	0.463000													5	313					0	0	0.184627	0	0
MYH2	4620	broad.mit.edu	37	17	10436617	10436617	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:10436617C>T	ENST00000245503.5	-	21	2810	c.2426G>A	c.(2425-2427)aGg>aAg	p.R809K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R809K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	809	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCACCATCCTCTGGTACTC	0.453000													8	224					0	0	0.361761	0	0
ATOH7	220202	broad.mit.edu	37	10	69991035	69991035	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:69991035C>T	ENST00000373673.3	-	1	836	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	134					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CTGTACAGCTCGCTCTCGCCC	0.711000													5	55					0	0	0.217242	0	0
FAM199X	139231	broad.mit.edu	37	X	103431140	103431140	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:103431140G>T	ENST00000493442.1	+	4	733		c.e4-1		FAM199X_ENST00000299906.5_Splice_Site	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCATCACATAGGTGGAATATA	0.328000													5	125					0.014758	0.01613	0.184627	1	0
NEB	4703	broad.mit.edu	37	2	152467042	152467042	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:152467042G>A	ENST00000397345.3	-	80	12208	c.12006C>T	c.(12004-12006)gaC>gaT	p.D4002D	NEB_ENST00000172853.10_Silent_p.D3759D|NEB_ENST00000409198.1_Silent_p.D3759D|NEB_ENST00000603639.1_Silent_p.D4002D|NEB_ENST00000427231.2_Silent_p.D4002D|NEB_ENST00000604864.1_Silent_p.D4002D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4001					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTGGCGATGTCCCTGGAGG	0.483000													15	191					0	0	0.457914	0	0
KCNA4	3739	broad.mit.edu	37	11	30032904	30032904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:30032904G>T	ENST00000328224.6	-	2	2555	c.1322C>A	c.(1321-1323)gCc>gAc	p.A441D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	441						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCTGAGGATGGCAAAGGACAT	0.562000													11	158					6.31663e-08	9.12868e-08	0.479597	1	0
ZNF12	7559	broad.mit.edu	37	7	6730890	6730890	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:6730890C>T	ENST00000405858.1	-	5	2224	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	ZNF12_ENST00000404360.1_Missense_Mutation_p.M487I|ZNF12_ENST00000342651.5_Missense_Mutation_p.M523I|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	561					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAGGTATGACATCTGAGAGA	0.408000													4	76					0	0	0.150653	0	0
IDS	3423	broad.mit.edu	37	X	148568579	148568579	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:148568579C>T	ENST00000340855.6	-	8	1266	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	IDS_ENST00000541269.1_Missense_Mutation_p.V142I|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000537071.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	353						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGGTAGCAACATCAAAATTG	0.448000													9	143					0	0	0.361761	0	0
STAM	8027	broad.mit.edu	37	10	17750775	17750775	+	Splice_Site	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:17750775G>T	ENST00000377524.3	+	13	1425	c.1209_splice	c.e13-1	p.V404_splice	STAM_ENST00000540523.1_Splice_Site_p.V293_splice	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	404					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCATCGCAGGTGTATGCAGG	0.448000													7	126					8.12818e-05	0.000101022	0.248553	1	0
OR10J3	441911	broad.mit.edu	37	1	159283825	159283825	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:159283825C>T	ENST00000332217.5	-	1	624	c.625G>A	c.(625-627)Gtt>Att	p.V209I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATAGGTAGAACAAGGACACAG	0.488000													6	211					0	0	0.217242	0	0
OR4S2	219431	broad.mit.edu	37	11	55418854	55418854	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:55418854G>T	ENST00000312422.2	+	1	475	c.475G>T	c.(475-477)Gct>Tct	p.A159S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATCCAAGTGGCTCTGGTAGT	0.428000													10	384					2.80697e-09	4.29941e-09	0.387290	1	0
TRIM69	140691	broad.mit.edu	37	15	45047475	45047475	+	Silent	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:45047475A>G	ENST00000559390.1	+	3	1312	c.384A>G	c.(382-384)ccA>ccG	p.P128P	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000329464.4_Silent_p.P128P|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	128	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCAGTAAACCAGATGGGAAAC	0.473000													8	146					0	0	0.307466	0	0
OR2T11	127077	broad.mit.edu	37	1	248789973	248789973	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:248789973C>A	ENST00000330803.2	-	1	518	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAGAAAGCCATCGAGGGAG	0.527000													8	66					0.00307968	0.00353472	0.278610	1	0
GLI3	2737	broad.mit.edu	37	7	42007403	42007403	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:42007403A>T	ENST00000395925.3	-	14	2306	c.2222T>A	c.(2221-2223)cTc>cAc	p.L741H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	741					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGGCACTGAGGTCTCCTAT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				13	222					0	0	0.411799	0	0
S1PR2	9294	broad.mit.edu	37	19	10334604	10334604	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:10334604C>A	ENST00000590320.1	-	2	1088	c.978G>T	c.(976-978)ctG>ctT	p.L326L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	326					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCGGAGTGGCAGGAGGTGGT	0.721000													6	55					0.00198382	0.00230738	0.248553	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834799	94834799	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:94834799C>A	ENST00000371531.1	+	3	849	c.471C>A	c.(469-471)atC>atA	p.I157I	CYP26A1_ENST00000394139.1_Silent_p.I157I|CYP26A1_ENST00000224356.4_Silent_p.I226I	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	226					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCTGCCCATCGACGTGCCCT	0.682000													29	204					3.70037e-05	4.66569e-05	0.740014	1	0
FLG2	388698	broad.mit.edu	37	1	152323159	152323159	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:152323159C>T	ENST00000388718.5	-	3	7175	c.7103G>A	c.(7102-7104)aGa>aAa	p.R2368K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2368							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGCTTTTTCTGCTGCCACC	0.448000													20	225					0	0	0.592651	0	0
OVOL1	5017	broad.mit.edu	37	11	65561549	65561549	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:65561549T>A	ENST00000532448.1	+	0	370				OVOL1_ENST00000335987.3_Missense_Mutation_p.S50T|OVOL1_ENST00000531907.1_3'UTR			O14753	OVOL1_HUMAN	ovo-like zinc finger 1						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCCGGAACCCTCTGTGGCCGA	0.652000													15	172					0	0	0.500413	0	0
PLOD1	5351	broad.mit.edu	37	1	12025546	12025546	+	Missense_Mutation	SNP	A	A	G	rs144007935		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:12025546A>G	ENST00000196061.4	+	14	1507	c.1480A>G	c.(1480-1482)Atg>Gtg	p.M494V	PLOD1_ENST00000376369.3_Missense_Mutation_p.M541V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	494					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGATGTGTTCATGTTCCTGAC	0.657000													18	147					0	0	0.520397	0	0
SLC25A5	292	broad.mit.edu	37	X	118604441	118604441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:118604441G>A	ENST00000317881.8	+	3	820	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	235					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACACTGTTCGCCGCCGCATG	0.517000													5	144					0	0	0.184627	0	0
FLNA	2316	broad.mit.edu	37	X	153596104	153596104	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153596104G>T	ENST00000422373.1	-	4	873	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	FLNA_ENST00000344736.4_Missense_Mutation_p.L209M|FLNA_ENST00000369850.3_Missense_Mutation_p.L209M|FLNA_ENST00000360319.4_Missense_Mutation_p.L209M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	209	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGGACACAGGCCTGTGGCG	0.672000													12	225					4.36969e-10	6.93728e-10	0.435327	1	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													6	41					0	0	0.217242	0	0
OR5D18	219438	broad.mit.edu	37	11	55587946	55587946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:55587946G>T	ENST00000333976.4	+	1	861	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTTTACACCGTGGTGATCCC	0.473000													9	136					0.00448238	0.00509095	0.307466	1	0
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622000													5	349					0	0	0.278610	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587526	43587526	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:43587526C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							gccgagatcgcgtcattgcac	0.488000													3	28					0	0	0.150653	0	0
NAV1	89796	broad.mit.edu	37	1	201618284	201618284	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:201618284C>T	ENST00000367296.4	+	1	908	c.488C>T	c.(487-489)cCg>cTg	p.P163L	NAV1_ENST00000367302.1_Missense_Mutation_p.P176L|NAV1_ENST00000295624.6_Missense_Mutation_p.P163L|NAV1_ENST00000367300.3_Missense_Mutation_p.P163L|NAV1_ENST00000367297.4_Missense_Mutation_p.P163L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	163					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCTGGCTCCGCTCGCGCCC	0.682000													4	60					0	0	0.184627	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837589	12837589	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:12837589G>T	ENST00000357726.4	+	3	1326	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	433										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAACTTGGGGCTGAGCTGA	0.567000													17	258					4.7546e-09	7.18143e-09	0.500413	1	0
NFATC1	4772	broad.mit.edu	37	18	77246650	77246650	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr18:77246650G>C	ENST00000329101.4	+	9	2512	c.2456G>C	c.(2455-2457)aGt>aCt	p.S819T	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.S360T|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.S832T|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000397790.2_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	832	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTCCAAGCAGTAGCTGCCCC	0.731000													4	42					0	0	0.184627	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725295	106725295	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:106725295C>A	ENST00000390609.2	-	0	335																											GATGGTGAACCGGCCCTTCAC	0.547000													39	1058					2.81731e-10	4.52226e-10	0.750413	1	0
OPRL1	4987	broad.mit.edu	37	20	62729936	62729936	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:62729936C>T	ENST00000349451.3	+	6	1309	c.897C>T	c.(895-897)gcC>gcT	p.A299A	OPRL1_ENST00000336866.2_Silent_p.A299A|OPRL1_ENST00000355631.4_Silent_p.A299A	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	299					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTGCCGTGGCCATTCTGCGCT	0.627000													12	121					0	0	0.411799	0	0
TRPM1	4308	broad.mit.edu	37	15	31324991	31324991	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:31324991C>T	ENST00000542188.1	-	21	3217	c.2904G>A	c.(2902-2904)gtG>gtA	p.V968V	TRPM1_ENST00000397795.2_Silent_p.V929V|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.V951V|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	929					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACAGTAGATCACCCGGCCAT	0.483000													9	154					0	0	0.387290	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566762	20566762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:20566762G>T	ENST00000329697.6	-	4	593	c.425C>A	c.(424-426)tCc>tAc	p.S142Y	ACSM2B_ENST00000567001.1_Missense_Mutation_p.S142Y|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S142Y|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S63Y|ACSM2B_ENST00000414188.2_Missense_Mutation_p.S142Y	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	142					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TATGTCAGTGGATTTCATCTG	0.438000													5	141					0.014758	0.01613	0.184627	1	0
SEMA5A	9037	broad.mit.edu	37	5	9238003	9238003	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:9238003C>A	ENST00000382496.5	-	6	936		c.e6-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCCACAGCCTGTAGAAAAC	0.393000													5	119					0.0215528	0.0233802	0.217242	1	0
PIRT	644139	broad.mit.edu	37	17	10728617	10728617	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:10728617T>C	ENST00000580256.1	-	2	984	c.346A>G	c.(346-348)Aag>Gag	p.K116E		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	116						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TTCTGTTTCTTTTTGATGATG	0.532000													8	153					0	0	0.307466	0	0
CD163L1	283316	broad.mit.edu	37	12	7510056	7510056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:7510056C>A	ENST00000313599.3	-	19	4363	c.4306G>T	c.(4306-4308)Gat>Tat	p.D1436Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.D1446Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.D1404Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1436						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCGCTAGCATCTTCACAACCA	0.448000													4	86					0.014758	0.01613	0.184627	1	0
PLCB2	5330	broad.mit.edu	37	15	40590523	40590523	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:40590523G>A	ENST00000260402.3	-	11	1305	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PLCB2_ENST00000557821.1_Silent_p.G352G|PLCB2_ENST00000456256.2_Silent_p.G352G	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	352	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGCAACGGCAGCCAGAGAGCA	0.592000													5	148					0	0	0.248553	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505008	151505008	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:151505008C>T	ENST00000317605.4	+	1	1932	c.827C>T	c.(826-828)aCg>aTg	p.T276M	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	276					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CACATGAAGACGCTGCTGCTG	0.622000													5	162					0	0	0.217242	0	0
ALPP	250	broad.mit.edu	37	2	233244495	233244495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:233244495C>T	ENST00000392027.2	+	5	775	c.506C>T	c.(505-507)aCc>aTc	p.T169I	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	169						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGAGTGGTAACCACCACACGA	0.652000													7	118					0	0	0.248553	0	0
OR51M1	390059	broad.mit.edu	37	11	5411021	5411021	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:5411021C>A	ENST00000328611.3	+	1	415	c.393C>A	c.(391-393)tcC>tcA	p.S131S	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	131						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGATGTCCTTTGACCGCC	0.502000													20	476					3.65163e-15	6.30341e-15	0.706142	1	0
ZNF248	57209	broad.mit.edu	37	10	38127039	38127039	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:38127039C>A	ENST00000395867.3	-	4	566	c.15_splice	c.e4-1	p.E6_splice	ZNF248_ENST00000374648.3_Splice_Site_p.E6_splice|ZNF248_ENST00000357328.4_Splice_Site_p.E6_splice|ZNF248_ENST00000494133.1_5'UTR	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GACACTTGTTCCTGTAATAGT	0.368000													9	187					2.17888e-05	2.77138e-05	0.335167	1	0
ASB15	142685	broad.mit.edu	37	7	123257754	123257754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:123257754C>A	ENST00000451558.1	+	9	935	c.414C>A	c.(412-414)aaC>aaA	p.N138K	ASB15_ENST00000275699.3_Missense_Mutation_p.N138K|ASB15_ENST00000451215.1_Missense_Mutation_p.N138K|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.N138K|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.N138K|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	138					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGTGGCCCAACACAAAAAATG	0.363000													9	106					9.70103e-10	1.52345e-09	0.361761	1	0
PXDN	7837	broad.mit.edu	37	2	1651960	1651960	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:1651960G>T	ENST00000252804.4	-	17	3642	c.3592C>A	c.(3592-3594)Cgg>Agg	p.R1198R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1198			R -> Q (in dbSNP:rs6723697).		extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTTTCTCCCGGATCTCAGGG	0.517000													22	347					2.89027e-11	4.7444e-11	0.624587	1	0
LGR6	59352	broad.mit.edu	37	1	202270345	202270345	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:202270345T>A	ENST00000367278.3	+	9	1000	c.911T>A	c.(910-912)cTg>cAg	p.L304Q	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.L165Q|LGR6_ENST00000255432.7_Missense_Mutation_p.L252Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	304						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTCCAGTACCTGCCTAAACTC	0.498000													10	75					0	0	0.361761	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825788	135825788	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:135825788G>C	ENST00000250617.6	-	5	1822	c.617C>G	c.(616-618)aCa>aGa	p.T206R	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T52R|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T52R|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T52R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	206	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAACCAGCCTGTTCTCCCATT	0.413000													21	278					0	0	0.639603	0	0
OPRL1	4987	broad.mit.edu	37	20	62729935	62729935	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:62729935C>A	ENST00000349451.3	+	6	1308	c.896C>A	c.(895-897)gCc>gAc	p.A299D	OPRL1_ENST00000336866.2_Missense_Mutation_p.A299D|OPRL1_ENST00000355631.4_Missense_Mutation_p.A299D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	299					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ACTGCCGTGGCCATTCTGCGC	0.632000													10	118					2.17888e-05	2.77138e-05	0.335167	1	0
GRIK1	2897	broad.mit.edu	37	21	31027160	31027160	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr21:31027160G>T	ENST00000399914.1	-	5	1271	c.750C>A	c.(748-750)acC>acA	p.T250T	GRIK1_ENST00000309434.7_Silent_p.T250T|GRIK1_ENST00000399907.1_Silent_p.T250T|GRIK1_ENST00000389124.2_Silent_p.T250T|GRIK1_ENST00000399913.1_Silent_p.T250T|GRIK1_ENST00000327783.4_Silent_p.T250T|GRIK1_ENST00000535441.1_Silent_p.T250T|GRIK1_ENST00000399909.1_Silent_p.T250T|GRIK1_ENST00000389125.3_Silent_p.T250T|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	250					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATAGTACTCGGTCATCATGC	0.403000													16	304					1.99824e-07	2.84063e-07	0.520397	1	0
SLC17A6	57084	broad.mit.edu	37	11	22363194	22363194	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:22363194C>A	ENST00000263160.3	+	2	644	c.207C>A	c.(205-207)cgC>cgA	p.R69R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	69					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCCTGCCCCGCCGCTACATTA	0.627000													7	85					0.0293803	0.031248	0.248553	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900580	151900580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:151900580G>T	ENST00000393900.3	-	3	574	c.221C>A	c.(220-222)aCc>aAc	p.T74N	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.T74N|MAGEA12_ENST00000357916.4_Missense_Mutation_p.T74N	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	74										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGTTGATGGTAGTGGGGAG	0.577000													9	260					9.70103e-10	1.52345e-09	0.361761	1	0
TRBV7-6	28592	broad.mit.edu	37	7	142139495	142139495	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:142139495G>C	ENST00000390374.3	-	0	174																											CCCGAAATTGGATCACACCTG	0.493000													7	142					0	0	0.307466	0	0
KCNA4	3739	broad.mit.edu	37	11	30032903	30032903	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:30032903G>T	ENST00000328224.6	-	2	2556	c.1323C>A	c.(1321-1323)gcC>gcA	p.A441A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	441						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTCTGAGGATGGCAAAGGACA	0.557000													10	160					6.31663e-08	9.12868e-08	0.479597	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944820	43944820	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:43944820C>A	ENST00000389420.3	-	2	344	c.345G>T	c.(343-345)ggG>ggT	p.G115G	ADAMTS20_ENST00000553158.1_Silent_p.G115G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	115						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCCCAGGCCCCGCGCTCCG	0.657000													6	65					0.0293803	0.031248	0.248553	1	0
IQUB	154865	broad.mit.edu	37	7	123101555	123101555	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:123101555G>T	ENST00000466202.1	-	11	2439	c.1863C>A	c.(1861-1863)cgC>cgA	p.R621R	IQUB_ENST00000324698.6_Silent_p.R621R			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	621										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCGGTATATGCGGCGTGAGG	0.378000													5	109					0.00116845	0.00137744	0.217242	1	0
FN1	2335	broad.mit.edu	37	2	216289837	216289837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:216289837C>T	ENST00000354785.4	-	7	1385	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	FN1_ENST00000426059.1_Missense_Mutation_p.G339E|FN1_ENST00000359671.1_Missense_Mutation_p.G339E|FN1_ENST00000357009.2_Missense_Mutation_p.G339E|FN1_ENST00000323926.6_Missense_Mutation_p.G339E|FN1_ENST00000357867.4_Missense_Mutation_p.G339E|FN1_ENST00000345488.5_Missense_Mutation_p.G339E|FN1_ENST00000336916.4_Missense_Mutation_p.G339E|FN1_ENST00000346544.3_Missense_Mutation_p.G339E|FN1_ENST00000446046.1_Missense_Mutation_p.G339E|FN1_ENST00000443816.1_Missense_Mutation_p.G339E|FN1_ENST00000432072.2_Missense_Mutation_p.G339E|FN1_ENST00000421182.1_Missense_Mutation_p.G339E|FN1_ENST00000356005.4_Missense_Mutation_p.G339E			P02751	FINC_HUMAN	fibronectin 1	339	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGCTGACTCCGTTGCCCAG	0.433000													6	563					0	0	0.278610	0	0
L1CAM	3897	broad.mit.edu	37	X	153133883	153133883	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153133883C>T	ENST00000370060.1	-	14	1766	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	L1CAM_ENST00000370055.1_Missense_Mutation_p.S521N|L1CAM_ENST00000361981.3_Missense_Mutation_p.S521N|L1CAM_ENST00000543994.1_Missense_Mutation_p.S528N|L1CAM_ENST00000538883.1_Missense_Mutation_p.S528N|L1CAM_ENST00000370057.3_Missense_Mutation_p.S526N|L1CAM_ENST00000361699.4_Missense_Mutation_p.S526N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	526	Ig-like C2-type 6.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGATTGTGCTGCGGGGCCC	0.617000													11	435					0	0	0.361761	0	0
DAAM2	23500	broad.mit.edu	37	6	39869751	39869751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:39869751C>T	ENST00000538976.1	+	25	3324	c.3142C>T	c.(3142-3144)Cga>Tga	p.R1048*	DAAM2_ENST00000398904.2_Nonsense_Mutation_p.R1049*|DAAM2_ENST00000274867.4_Nonsense_Mutation_p.R1049*	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1049	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCCGCAAGCGATCAGGGAG	0.612000													4	113					0	0	0.150653	0	0
GINS3	64785	broad.mit.edu	37	16	58438632	58438632	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:58438632G>A	ENST00000318129.5	+	3	858	c.650G>A	c.(649-651)tGa>tAa	p.*217*	GINS3_ENST00000426538.2_Silent_p.*256*|GINS3_ENST00000328514.7_Silent_p.*139*	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	0					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ATGGAAGACTGAAAGCCGGAA	0.473000													3	41					0	0	0.115264	0	0
ACSL6	23305	broad.mit.edu	37	5	131303676	131303676	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:131303676T>C	ENST00000379264.2	-	16	1661	c.1553A>G	c.(1552-1554)gAt>gGt	p.D518G	ACSL6_ENST00000379244.1_Missense_Mutation_p.D493G|ACSL6_ENST00000431707.1_Missense_Mutation_p.D473G|ACSL6_ENST00000379272.2_Missense_Mutation_p.D508G|ACSL6_ENST00000544770.1_Missense_Mutation_p.D402G|ACSL6_ENST00000543479.1_Missense_Mutation_p.D493G|ACSL6_ENST00000357096.1_Missense_Mutation_p.D418G|ACSL6_ENST00000379240.1_Missense_Mutation_p.D493G|ACSL6_ENST00000379255.1_Missense_Mutation_p.D418G|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.D493G|ACSL6_ENST00000379246.1_Missense_Mutation_p.D504G|ACSL6_ENST00000296869.4_Missense_Mutation_p.D518G	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	493					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCAACATCAACGAGCTT	0.483000													14	264					0	0	0.539581	0	0
OR1L8	138881	broad.mit.edu	37	9	125330487	125330487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:125330487C>A	ENST00000304865.2	-	1	351	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATGGTCTTCTTTTCTGACA	0.458000													8	114					2.17888e-05	2.77138e-05	0.335167	1	0
MYEOV2	150678	broad.mit.edu	37	2	241069342	241069342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:241069342C>A	ENST00000307266.3	-	4	366	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCCGACACCACAGGCCGCTCT	0.612000													9	171					2.17888e-05	2.77138e-05	0.335167	1	0
ABCB1	5243	broad.mit.edu	37	7	87178745	87178745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:87178745G>T	ENST00000265724.3	-	15	2061	c.1644C>A	c.(1642-1644)aaC>aaA	p.N548K	ABCB1_ENST00000543898.1_Missense_Mutation_p.N484K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	548	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGATCTTGGGGTTGCGAACCA	0.557000													7	145					0.000442599	0.000531853	0.335167	1	0
ATG13	9776	broad.mit.edu	37	11	46693848	46693848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:46693848G>A	ENST00000434074.1	+	17	2209	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	ATG13_ENST00000451945.1_Missense_Mutation_p.R470H|ATG13_ENST00000524625.1_Missense_Mutation_p.R470H|ATG13_ENST00000359513.4_Missense_Mutation_p.R507H|ATG13_ENST00000530500.1_Missense_Mutation_p.R391H|ATG13_ENST00000529655.1_Missense_Mutation_p.R470H|ATG13_ENST00000312040.4_Missense_Mutation_p.R507H|ATG13_ENST00000526508.1_Missense_Mutation_p.R507H|ATG13_ENST00000528494.1_Missense_Mutation_p.R540H	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	507					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AAGAATGTCCGCGAGTTTGAT	0.542000													7	273					0	0	0.278610	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532404	84532404	+	RNA	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:84532404G>C	ENST00000527857.1	+	0	2426					NR_026851.1																						ATCTTCAGACGAGGATCTGAG	0.448000													6	125					0	0	0.248553	0	0
KCNS2	3788	broad.mit.edu	37	8	99440791	99440791	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:99440791T>C	ENST00000287042.4	+	2	934	c.584T>C	c.(583-585)cTg>cCg	p.L195P	KCNS2_ENST00000521839.1_Missense_Mutation_p.L195P	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	195						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTGTCCATCCTGGTGGTGATG	0.612000													4	139					0	0	0.150653	0	0
CCKAR	886	broad.mit.edu	37	4	26487448	26487448	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:26487448G>A	ENST00000295589.3	-	3	631	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGACTGTAAGGGTTTGCAAAT	0.468000													4	59					0	0	0.150653	0	0
C4orf21	55345	broad.mit.edu	37	4	113539658	113539658	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:113539658T>C	ENST00000505019.1	-	6	1665	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	C4orf21_ENST00000445203.2_Missense_Mutation_p.N483D|C4orf21_ENST00000309071.5_Missense_Mutation_p.N514D	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	514										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAATACTATTAAGACTTTCA	0.323000													8	134					0	0	0.307466	0	0
TRIM36	55521	broad.mit.edu	37	5	114499262	114499262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:114499262C>T	ENST00000513154.1	-	2	541	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R84Q|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	84						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)		GGAGGGGAGCCGAAGTCGAGG	0.443000													9	164					0	0	0.361761	0	0
RGS6	9628	broad.mit.edu	37	14	73029134	73029134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:73029134C>A	ENST00000553530.1	+	17	1585	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	RGS6_ENST00000402788.2_Missense_Mutation_p.L460M|RGS6_ENST00000553525.1_Missense_Mutation_p.L478M|RGS6_ENST00000554782.1_Intron|RGS6_ENST00000556437.1_Missense_Mutation_p.L478M|RGS6_ENST00000555571.1_Missense_Mutation_p.L460M|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000343854.6_Missense_Mutation_p.L441M	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	460					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGGAAAGTCGCTGGCGGGCAA	0.652000													9	162					1.76689e-08	2.60542e-08	0.335167	1	0
ADAM12	8038	broad.mit.edu	37	10	127806660	127806660	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:127806660T>A	ENST00000368679.4	-	6	868	c.559A>T	c.(559-561)Aac>Tac	p.N187Y	ADAM12_ENST00000368676.4_Missense_Mutation_p.N187Y	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	187					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCAGCGAGGTTTGGTGTGTTG	0.473000													10	292					0	0	0.361761	0	0
DDI1	414301	broad.mit.edu	37	11	103907619	103907619	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:103907619C>A	ENST00000302259.3	+	1	312	c.69C>A	c.(67-69)ccC>ccA	p.P23P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	23	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGGTCAGCCCCGACTTTGAGC	0.632000													41	361					3.76604e-16	6.57922e-16	0.853193	1	0
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:154574475C>A	ENST00000368474.4	-	2	842	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.G258C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522000													6	211					0.00198382	0.00230738	0.248553	1	0
SERPIND1	3053	broad.mit.edu	37	22	21133942	21133942	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:21133942C>A	ENST00000215727.5	+	2	625	c.342C>A	c.(340-342)ctC>ctA	p.L114L	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L114L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	114					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GGAACATCCTCCAGCTTTTTC	0.502000													4	133					0.014758	0.01613	0.184627	1	0
KCNA4	3739	broad.mit.edu	37	11	30032868	30032868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:30032868C>A	ENST00000328224.6	-	2	2591	c.1358G>T	c.(1357-1359)cGg>cTg	p.R453L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	453						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTTGAAGATCCGGAATACTCG	0.582000													9	155					3.07112e-06	4.13602e-06	0.387290	1	0
ALPK3	57538	broad.mit.edu	37	15	85411391	85411391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:85411391G>A	ENST00000258888.5	+	14	5595	c.5428G>A	c.(5428-5430)Gcc>Acc	p.A1810T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1810	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGACCGGTTCGCCTCCTCCCA	0.622000													14	437					0	0	0.520397	0	0
ASIC3	9311	broad.mit.edu	37	7	150748969	150748969	+	Silent	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:150748969T>C	ENST00000357922.4	+	7	1881	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	ASIC3_ENST00000349064.5_Silent_p.Y429Y|ASIC3_ENST00000297512.8_Silent_p.Y429Y	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	429					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGAAGGCCTATGAGATGTCAG	0.587000													6	170					0	0	0.307466	0	0
DRP2	1821	broad.mit.edu	37	X	100496819	100496819	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:100496819A>T	ENST00000395209.3	+	7	1249	c.722A>T	c.(721-723)gAg>gTg	p.E241V	DRP2_ENST00000538510.1_Missense_Mutation_p.E241V|DRP2_ENST00000541709.1_Missense_Mutation_p.E163V|DRP2_ENST00000402866.1_Missense_Mutation_p.E241V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	241					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGGGCAATGGAGGAACTAAGC	0.562000													5	48					0	0	0.184627	0	0
OPN4	94233	broad.mit.edu	37	10	88418262	88418262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:88418262G>T	ENST00000372071.2	+	5	706	c.479G>T	c.(478-480)tGt>tTt	p.C160F	OPN4_ENST00000241891.5_Missense_Mutation_p.C149F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	149					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.C160Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TATGCCTTCTGTGGAGCTCTC	0.617000													7	89					0.000157383	0.000193943	0.278610	1	0
MED12	9968	broad.mit.edu	37	X	70345919	70345919	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:70345919G>T	ENST00000333646.6	+	18	2655	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	MED12_ENST00000374102.1_Missense_Mutation_p.R819L|MED12_ENST00000374080.3_Missense_Mutation_p.R819L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	819					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGACGCAACCGGCCTGAAGCC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						26	351					1.33986e-20	2.35968e-20	0.681144	1	0
OR13C4	138804	broad.mit.edu	37	9	107288781	107288781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:107288781G>T	ENST00000277216.3	-	1	709	c.710C>A	c.(709-711)gCa>gAa	p.A237E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAAAATGCCTTGTGTCT	0.433000													9	206					0.00829132	0.00934384	0.361761	1	0
OR4K14	122740	broad.mit.edu	37	14	20482527	20482527	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:20482527A>G	ENST00000305045.2	-	1	825	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAATGGTATAAAACACAGAC	0.433000													7	106					0	0	0.248553	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													6	120					0	0	0.217242	0	0
CACNA1B	774	broad.mit.edu	37	9	140952657	140952657	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:140952657G>A	ENST00000277549.5	+	29	4420	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CACNA1B_ENST00000371355.4_Silent_p.E1422E|CACNA1B_ENST00000371363.1_Silent_p.E1421E|CACNA1B_ENST00000371372.1_Silent_p.E1421E|CACNA1B_ENST00000371357.1_Silent_p.E1422E|CACNA1B_ENST00000277551.2_Silent_p.E1421E			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1421					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)	CCTTCCAGGAGCAGGGGGACA	0.537000													23	284					0	0	0.654019	0	0
RAP2C	57826	broad.mit.edu	37	X	131351115	131351115	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:131351115G>C	ENST00000342983.2	-	2	928	c.182C>G	c.(181-183)aCt>aGt	p.T61S	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T61S	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	61					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AAACTGCTCAGTTCCTGCGGT	0.453000													11	262					0	0	0.387290	0	0
PCDH9	5101	broad.mit.edu	37	13	67801313	67801313	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:67801313C>T	ENST00000544246.1	-	2	1951	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L	PCDH9_ENST00000377865.2_Silent_p.L420L|PCDH9_ENST00000328454.5_Silent_p.L420L|PCDH9_ENST00000377861.3_Silent_p.L420L|PCDH9_ENST00000456367.1_Silent_p.L420L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	420	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTCTCTAACAAATATTGGT	0.403000													4	135					0	0	0.150653	0	0
LINC01205	401082	broad.mit.edu	37	3	109128846	109128846	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:109128846C>T	ENST00000497996.1	+	0	10																											CAGTAGAGGGCGCACTCTTGT	0.517000													7	38					0	0	0.307466	0	0
COL4A6	1288	broad.mit.edu	37	X	107414632	107414632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:107414632C>T	ENST00000334504.7	-	33	3495	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	COL4A6_ENST00000538570.1_Missense_Mutation_p.E1088K|COL4A6_ENST00000372216.4_Missense_Mutation_p.E1089K|COL4A6_ENST00000394872.2_Missense_Mutation_p.E1089K|COL4A6_ENST00000545689.1_Missense_Mutation_p.E1088K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1089	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						AAACCAGATTCGCCAGGCTGT	0.458000									Alport syndrome with Diffuse Leiomyomatosis				9	125					0	0	0.411799	0	0
EIF3E	3646	broad.mit.edu	37	8	109215340	109215340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:109215340C>A	ENST00000220849.5	-	12	1233	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	EIF3E_ENST00000519030.1_Missense_Mutation_p.V298L	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	391	PCI.|Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCCATAACCACATGACCCTAA	0.378000													10	168					1.5842e-08	2.34397e-08	0.435327	1	0
USP19	10869	broad.mit.edu	37	3	49152399	49152399	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:49152399G>C	ENST00000453664.1	-	14	2456	c.2138C>G	c.(2137-2139)cCc>cGc	p.P713R	USP19_ENST00000398888.2_Missense_Mutation_p.P622R|USP19_ENST00000398896.1_Missense_Mutation_p.P430R|USP19_ENST00000434032.2_Missense_Mutation_p.P723R|USP19_ENST00000398898.2_Missense_Mutation_p.P662R|USP19_ENST00000417901.1_Missense_Mutation_p.P725R|USP19_ENST00000398892.3_Missense_Mutation_p.P662R	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	622					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCTCATCGGGCCGCCCATC	0.582000													5	191					0	0	0.217242	0	0
TRRAP	8295	broad.mit.edu	37	7	98557093	98557093	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:98557093G>T	ENST00000359863.4	+	44	6657	c.6448G>T	c.(6448-6450)Gac>Tac	p.D2150Y	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2132Y|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2131Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2150	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGTGGTTCGACAAGCTGCT	0.612000													4	120					3.59834e-05	4.55022e-05	0.217242	1	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													9	206					0	0	0.387290	0	0
FAT3	120114	broad.mit.edu	37	11	92531937	92531937	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:92531937T>A	ENST00000298047.6	+	9	5775	c.5758T>A	c.(5758-5760)Tac>Aac	p.Y1920N	FAT3_ENST00000409404.2_Missense_Mutation_p.Y1920N|FAT3_ENST00000525166.1_Missense_Mutation_p.Y1770N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1920	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAACTGACATACAGCCTAAT	0.418000										TCGA Ovarian(4;0.039)			5	76					0	0	0.184627	0	0
DCLK1	9201	broad.mit.edu	37	13	36699947	36699947	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:36699947T>C	ENST00000255448.4	-	2	539	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	DCLK1_ENST00000360631.3_Missense_Mutation_p.T110A|DCLK1_ENST00000379892.4_Missense_Mutation_p.T110A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	110	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCATCAATGGTGTAGATTGTT	0.542000													4	121					0	0	0.184627	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	71					0	0	0.150653	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889937	23889937	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:23889937G>A	ENST00000532292.1	-	1	1238	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGCTCCCTGGGCTTTCAGAG	0.642000													8	90					0	0	0.278610	0	0
DSG1	1828	broad.mit.edu	37	18	28919787	28919787	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr18:28919787C>G	ENST00000257192.4	+	11	1698	c.1486C>G	c.(1486-1488)Ccg>Gcg	p.P496A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	496	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAATACAGAGCCGAACACTAA	0.348000													8	153					0	0	0.278610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89341284	89341284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:89341284G>T	ENST00000301030.4	-	11	8111	c.7651C>A	c.(7651-7653)Cca>Aca	p.P2551T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2551T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2551						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAATGGCACTGCCTGG	0.612000													12	139					1.61879e-10	2.62752e-10	0.411799	1	0
RHOQ	23433	broad.mit.edu	37	2	46770308	46770308	+	Silent	SNP	C	C	T	rs146259491		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:46770308C>T	ENST00000238738.4	+	1	442	c.123C>T	c.(121-123)acC>acT	p.T41T	RHOQ_ENST00000465198.1_Intron	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	41					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACGTGCCCACCGTCTTCGACC	0.652000													8	249					0	0	0.361761	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770554	31770554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:31770554C>A	ENST00000240587.4	-	2	472	c.145G>T	c.(145-147)Gag>Tag	p.E49*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	49					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTCCTTCTCCGGGCACATG	0.592000													5	91					0.00198382	0.00230738	0.248553	1	0
LINC00987	100499405	broad.mit.edu	37	12	9393025	9393025	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:9393025C>A	ENST00000427111.3	+	0	427					NR_036466.1																						GCGGCGGAGGCGGCTGCGGCG	0.582000													9	28					2.32078e-09	3.6055e-09	0.479597	1	0
VPS13B	157680	broad.mit.edu	37	8	100127968	100127968	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:100127968A>G	ENST00000395996.1	+	7	914	c.803A>G	c.(802-804)gAt>gGt	p.D268G	VPS13B_ENST00000358544.2_Missense_Mutation_p.D268G|VPS13B_ENST00000357162.2_Missense_Mutation_p.D268G|VPS13B_ENST00000355155.1_Missense_Mutation_p.D268G|VPS13B_ENST00000441350.2_Missense_Mutation_p.D268G			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	268					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTATCACAGATCAACAACTG	0.318000													5	168					0	0	0.184627	0	0
MYH13	8735	broad.mit.edu	37	17	10247342	10247342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:10247342G>T	ENST00000418404.3	-	15	1832	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	MYH13_ENST00000570743.1_Missense_Mutation_p.Q557K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q557K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	557	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCAAGATGCTGGTCATACAGC	0.527000													19	201					0.000175454	0.000215601	0.592651	1	0
TANC2	26115	broad.mit.edu	37	17	61466820	61466820	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:61466820C>T	ENST00000424789.2	+	15	2748	c.2744C>T	c.(2743-2745)tCt>tTt	p.S915F	TANC2_ENST00000389520.4_Missense_Mutation_p.S915F|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	915							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GATGCCTCTTCTGAAAGTGGC	0.532000													4	50					0	0	0.150653	0	0
DSCAM	1826	broad.mit.edu	37	21	41561153	41561153	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr21:41561153A>G	ENST00000400454.1	-	12	2846	c.2369T>C	c.(2368-2370)aTa>aCa	p.I790T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	790	Ig-like C2-type 9.				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)				ATAGGATGTTATCATCGCAGG	0.488000													5	88					0	0	0.217242	0	0
HUWE1	10075	broad.mit.edu	37	X	53634598	53634598	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:53634598C>T	ENST00000342160.3	-	24	2839	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	HUWE1_ENST00000218328.8_Silent_p.V794V|HUWE1_ENST00000262854.6_Silent_p.V794V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	794					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTTCTGATTCACAAATTCCT	0.413000													5	82					0	0	0.217242	0	0
WWC2	80014	broad.mit.edu	37	4	184205471	184205471	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:184205471G>T	ENST00000403733.3	+	19	3175	c.2976G>T	c.(2974-2976)ccG>ccT	p.P992P	WWC2_ENST00000448232.2_Silent_p.P1016P|WWC2_ENST00000508747.1_Silent_p.P120P|WWC2_ENST00000504005.1_Silent_p.P674P|WWC2_ENST00000513834.1_Silent_p.P943P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	992										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GACAGCATCCGTTTGTGAGGA	0.527000													13	160					1.61879e-10	2.62752e-10	0.411799	1	0
NPY5R	4889	broad.mit.edu	37	4	164272533	164272533	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:164272533C>G	ENST00000515560.1	+	4	2630	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	NPY5R_ENST00000506953.1_Missense_Mutation_p.L370V|NPY5R_ENST00000338566.3_Missense_Mutation_p.L370V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	370					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)				TTTCTACAGACTGACCATACT	0.323000													5	148					0	0	0.184627	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642000													4	275					0	0	0.184627	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518346	27518346	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:27518346C>A	ENST00000356183.4	-	9	1389	c.1374G>T	c.(1372-1374)ctG>ctT	p.L458L	GTF3C1_ENST00000561623.1_Silent_p.L458L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCATAGACGCCAGGCTCACGG	0.597000													5	96					0.217242	0.221312	0.217242	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121317	38121317	+	Silent	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:38121317T>A	ENST00000406386.3	+	7	3009	c.2754T>A	c.(2752-2754)ggT>ggA	p.G918G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	918					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGTGATGGTCCCCGAACCT	0.582000													10	274					0	0	0.335167	0	0
NOBOX	135935	broad.mit.edu	37	7	144098633	144098633	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:144098633C>A	ENST00000467773.1	-	4	349	c.350G>T	c.(349-351)cGg>cTg	p.R117L	NOBOX_ENST00000483238.1_Missense_Mutation_p.R117L|NOBOX_ENST00000223140.5_Missense_Mutation_p.R32L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	117			R -> W (in dbSNP:rs7800847).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCTGAGCCCCGGAGCAGTTC	0.622000													10	128					3.86212e-05	4.84156e-05	0.361761	1	0
ZNF699	374879	broad.mit.edu	37	19	9408633	9408633	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:9408633T>A	ENST00000591998.1	-	4	437	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	ZNF699_ENST00000308650.3_Missense_Mutation_p.Q70L			Q32M78	ZN699_HUMAN	zinc finger protein 699	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q70R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGTTCCCACTGGGAGATCAG	0.488000													8	140					0	0	0.278610	0	0
SETD7	80854	broad.mit.edu	37	4	140450217	140450217	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:140450217T>C	ENST00000274031.3	-	4	1166	c.530A>G	c.(529-531)gAa>gGa	p.E177G	SETD7_ENST00000506866.2_Missense_Mutation_p.E177G	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	177					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AGGCCTCCCTTCTTCAGTGGA	0.453000													15	180					0	0	0.500413	0	0
CYLC1	1538	broad.mit.edu	37	X	83129400	83129400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:83129400G>T	ENST00000329312.4	+	4	1721	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	562					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATGAATCAGATGGCACATC	0.363000													4	89					0.00024832	0.00030173	0.150653	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8219168	8219168	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:8219168T>C	ENST00000361926.3	+	8	1627	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.V506A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	506	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTTTCTCGGTGTATGTGGAT	0.592000													9	136					0	0	0.307466	0	0
ASMT	438	broad.mit.edu	37	X	1752120	1752120	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:1752120G>A	ENST00000381241.3	+	7	923	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	ASMT_ENST00000381229.4_Missense_Mutation_p.V214M|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	214					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCCCAGAAGTGGTGTGGAC	0.527000													21	397					0	0	0.624587	0	0
OR14C36	127066	broad.mit.edu	37	1	248512452	248512452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:248512452C>A	ENST00000317861.1	+	1	376	c.376C>A	c.(376-378)Cag>Aag	p.Q126K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q126K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCTGTCTGCCAGCCACTTCA	0.512000													4	99					0.00024832	0.00030173	0.150653	1	0
FGFR1OP2	26127	broad.mit.edu	37	12	27109512	27109512	+	Missense_Mutation	SNP	A	A	G	rs137858129		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:27109512A>G	ENST00000229395.3	+	3	514	c.172A>G	c.(172-174)Aga>Gga	p.R58G	FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.R58G|FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.R58G	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	58						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					TGAAGTCGCGAGACATCGGCC	0.358000													5	149					0	0	0.217242	0	0
FAM135B	51059	broad.mit.edu	37	8	139277945	139277945	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:139277945C>G	ENST00000395297.1	-	4	468		c.e4+1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B											NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCATGACTTACCCTTTCACCA	0.453000										HNSCC(54;0.14)			3	81					0	0	0.184627	0	0
TRPM8	79054	broad.mit.edu	37	2	234905057	234905057	+	Silent	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:234905057C>G	ENST00000324695.4	+	22	3067	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L	TRPM8_ENST00000433712.2_Silent_p.L587L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1009						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCAGCCGCCTCAATATCCCCT	0.522000													8	131					0	0	0.278610	0	0
DTX1	1840	broad.mit.edu	37	12	113532931	113532931	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:113532931C>A	ENST00000257600.3	+	7	1974	c.1471C>A	c.(1471-1473)Ctc>Atc	p.L491I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	491					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAGTTCCACCTCATCCCCCA	0.647000													5	207					0.014758	0.01613	0.184627	1	0
SLC25A12	8604	broad.mit.edu	37	2	172641898	172641898	+	Silent	SNP	G	G	A	rs113486658		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:172641898G>A	ENST00000422440.2	-	18	1960	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	SLC25A12_ENST00000392592.4_Silent_p.L534L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	641					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGGCTGTGGCGAGTCTGTATC	0.502000													14	224					0	0	0.457914	0	0
LRP8	7804	broad.mit.edu	37	1	53720798	53720798	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:53720798C>A	ENST00000306052.6	-	16	2595	c.2494G>T	c.(2494-2496)Gtg>Ttg	p.V832L	LRP8_ENST00000354412.3_Missense_Mutation_p.V628L|LRP8_ENST00000347547.2_Missense_Mutation_p.V662L|LRP8_ENST00000465675.1_Missense_Mutation_p.V385L|LRP8_ENST00000371454.2_Missense_Mutation_p.V832L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	832					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTATGGGCACGATGATCCCG	0.512000													4	135					0.00909568	0.0101713	0.150653	1	0
MAP3K7	6885	broad.mit.edu	37	6	91233477	91233477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:91233477C>A	ENST00000369329.3	-	14	1543	c.1382G>T	c.(1381-1383)aGt>aTt	p.S461I	MAP3K7_ENST00000369332.3_Missense_Mutation_p.S434I|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.S461I|MAP3K7_ENST00000369320.1_Missense_Mutation_p.S115I|MAP3K7_ENST00000369327.3_Missense_Mutation_p.S434I	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	461					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CATTCTGACACTGGGACTGGA	0.423000													5	88					0.184627	0.189865	0.184627	1	0
AIM1	202	broad.mit.edu	37	6	106978148	106978148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:106978148G>T	ENST00000369066.3	+	6	3939	c.3452G>T	c.(3451-3453)gGt>gTt	p.G1151V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1151	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGGGATTTGGTGTAATGCAG	0.353000													15	211					8.81451e-21	1.55866e-20	0.575678	1	0
AOC2	314	broad.mit.edu	37	17	41001207	41001207	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:41001207C>T	ENST00000253799.3	+	2	1720	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	AOC2_ENST00000452774.2_Silent_p.L565L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	565					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGCAGGTCCTGGGAAAGGA	0.602000													10	151					0	0	0.361761	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95664931	95664931	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:95664931G>C	ENST00000324972.6	+	13	1475	c.1281_splice	c.e13-1	p.E428_splice	DYNC1I1_ENST00000537881.1_Splice_Site_p.E391_splice|DYNC1I1_ENST00000457059.1_Splice_Site_p.E411_splice|DYNC1I1_ENST00000447467.2_Splice_Site_p.E411_splice|DYNC1I1_ENST00000359388.4_Splice_Site_p.E391_splice|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Splice_Site_p.E408_splice	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	428					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTTTTGGTAGGAGAGCATGGA	0.468000													6	184					0	0	0.248553	0	0
CHD5	26038	broad.mit.edu	37	1	6189113	6189113	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:6189113T>G	ENST00000262450.3	-	23	3503	c.3404A>C	c.(3403-3405)cAc>cCc	p.H1135P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1135	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCGATGCGGTGGGCGCGGCT	0.627000													4	86					0	0	0.184627	0	0
TRPC5	7224	broad.mit.edu	37	X	111155754	111155754	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:111155754C>T	ENST00000262839.2	-	3	1583	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	222					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R222H(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGCCCAGACGGAAGGCAGT	0.557000													14	579					0	0	0.479597	0	0
TRPC7	57113	broad.mit.edu	37	5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:135693041C>T	ENST00000513104.1	-	2	317	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R12H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R12H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	12					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572000													12	122					0	0	0.387290	0	0
PREX2	80243	broad.mit.edu	37	8	69021743	69021743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:69021743C>T	ENST00000288368.4	+	25	3308	c.3031C>T	c.(3031-3033)Ctc>Ttc	p.L1011F		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	1011					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						TGGCCATGGTCTCAGGTATCT	0.498000													5	164					0	0	0.278610	0	0
FBN2	2201	broad.mit.edu	37	5	127595459	127595459	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:127595459G>A	ENST00000508053.1	-	71	9401	c.8427C>T	c.(8425-8427)ctC>ctT	p.L2809L	FBN2_ENST00000262464.4_Silent_p.L2809L			P35556	FBN2_HUMAN	fibrillin 2	2809					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGAGGTGGGAGAGGTTGAACT	0.517000													8	207					0	0	0.307466	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858311	54858311	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:54858311G>T	ENST00000333896.5	+	15	3473	c.3088G>T	c.(3088-3090)Gtg>Ttg	p.V1030L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1043L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1043					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATCAGCGACGTGTGGGAGGA	0.627000													11	228					6.42651e-13	1.08776e-12	0.387290	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073300	17073300	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:17073300G>T	ENST00000359963.3	-	1	400	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	47					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCAAGGCCGGATGACACTGG	0.642000													11	191					2.80697e-09	4.29941e-09	0.387290	1	0
BCL6B	255877	broad.mit.edu	37	17	6927841	6927841	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:6927841C>G	ENST00000293805.5	+	4	615	c.523C>G	c.(523-525)Cga>Gga	p.R175G	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	175	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						TACTGAATCTCGAAGCTGCAG	0.622000													30	353					0	0	0.788014	0	0
MME	4311	broad.mit.edu	37	3	154878222	154878222	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:154878222G>A	ENST00000460393.1	+	17	1765	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.G549R|MME_ENST00000462745.1_Missense_Mutation_p.G549R|MME_ENST00000492661.1_Missense_Mutation_p.G549R|MME_ENST00000360490.2_Missense_Mutation_p.G549R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	549					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTACTCTTCAGGAAGAAATCA	0.343000													19	305					0	0	0.608945	0	0
CCDC19	25790	broad.mit.edu	37	1	159862999	159862999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:159862999C>A	ENST00000368099.4	-	2	164	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	34						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTCTCATCCACCTCAGAGCTC	0.527000													10	265					7.48243e-07	1.04322e-06	0.335167	1	0
MMP15	4324	broad.mit.edu	37	16	58071482	58071482	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:58071482A>G	ENST00000219271.3	+	2	1054	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	90					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCGCTTCTACGGGATCCCA	0.622000													8	226					0	0	0.278610	0	0
OR8K3	219473	broad.mit.edu	37	11	56085826	56085826	+	Missense_Mutation	SNP	C	C	A	rs149952066		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:56085826C>A	ENST00000312711.1	+	1	44	c.44C>A	c.(43-45)aCg>aAg	p.T15K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423000													17	229					3.52763e-06	4.7216e-06	0.520397	1	0
ZP4	57829	broad.mit.edu	37	1	238053218	238053218	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:238053218G>C	ENST00000366570.4	-	3	507	c.349C>G	c.(349-351)Cac>Gac	p.H117D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	117					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCACCTTGTGTTCAGCCGCG	0.582000													39	574					0	0	0.819951	0	0
PELI1	57162	broad.mit.edu	37	2	64327576	64327576	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:64327576C>A	ENST00000358912.4	-	4	701	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	87					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCAACCACCACAGTCTGGGCC	0.328000													9	240					1.36491e-13	2.32838e-13	0.435327	1	0
CDH10	1008	broad.mit.edu	37	5	24511451	24511451	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:24511451G>A	ENST00000264463.4	-	6	1494	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCACAGTGATGATGCCTTCCT	0.408000										HNSCC(23;0.051)			8	298					0	0	0.335167	0	0
CCBE1	147372	broad.mit.edu	37	18	57122123	57122123	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr18:57122123A>T	ENST00000439986.4	-	6	651	c.614T>A	c.(613-615)tTc>tAc	p.F205Y	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	205					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATCTGGTAGAACTCCTTGCA	0.562000													4	116					0	0	0.184627	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213043	43213043	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:43213043G>A	ENST00000236040.4	-	14	1995	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F	LEPRE1_ENST00000296388.5_Missense_Mutation_p.S652F|LEPRE1_ENST00000397054.3_Missense_Mutation_p.S652F|LEPRE1_ENST00000462474.1_5'UTR	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	652	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTGCCTGAAGAGAATCCCAC	0.597000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	175					0	0	0.307466	0	0
OR10C1	442194	broad.mit.edu	37	6	29408301	29408301	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:29408301C>A	ENST00000444197.2	+	1	1219	c.509C>A	c.(508-510)cCc>cAc	p.P170H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTGCGGCCCCAATACCATC	0.592000													6	258					5.9392e-07	8.30724e-07	0.217242	1	0
NADK	65220	broad.mit.edu	37	1	1688592	1688592	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:1688592A>C	ENST00000344463.4	-	6	954	c.733T>G	c.(733-735)Tgg>Ggg	p.W245G	NADK_ENST00000341991.3_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.W245G|NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTC	0.627000													3	16					0	0	0.150653	0	0
OR5A2	219981	broad.mit.edu	37	11	59190251	59190251	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:59190251G>T	ENST00000302040.4	-	1	198	c.176C>A	c.(175-177)cCc>cAc	p.P59H		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGTACATGGGCATGTGCAG	0.488000													11	114					1.58986e-06	2.15449e-06	0.361761	1	0
REG1A	5967	broad.mit.edu	37	2	79348721	79348721	+	Missense_Mutation	SNP	G	G	T	rs140205269		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:79348721G>T	ENST00000233735.1	+	3	201	c.98G>T	c.(97-99)cGg>cTg	p.R33L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	33					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCCAGGCCCGGATCAGCTGC	0.522000													23	532					6.44725e-10	1.01984e-09	0.624587	1	0
LIN52	91750	broad.mit.edu	37	14	74665653	74665653	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:74665653C>T	ENST00000555028.1	+	6	491	c.324C>T	c.(322-324)ctC>ctT	p.L108L		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	108										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GGAAATTCCTCAATATTCTAG	0.448000													6	89					0	0	0.217242	0	0
ITGA7	3679	broad.mit.edu	37	12	56092259	56092259	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:56092259C>T	ENST00000257880.7	-	8	1451	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	ITGA7_ENST00000257879.6_Missense_Mutation_p.G367E|ITGA7_ENST00000394230.2_Missense_Mutation_p.G371E|ITGA7_ENST00000555728.1_Missense_Mutation_p.G411E|ITGA7_ENST00000394229.2_Missense_Mutation_p.G367E|ITGA7_ENST00000347027.6_Missense_Mutation_p.G367E|ITGA7_ENST00000452168.2_Missense_Mutation_p.G274E|ITGA7_ENST00000553804.1_Missense_Mutation_p.G371E			Q13683	ITA7_HUMAN	integrin, alpha 7	411					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGGGAGATCCCAGCCCAGTG	0.612000													10	159					0	0	0.387290	0	0
NEB	4703	broad.mit.edu	37	2	152423858	152423858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:152423858G>T	ENST00000397345.3	-	114	18182	c.17980C>A	c.(17980-17982)Cac>Aac	p.H5994N	NEB_ENST00000172853.10_Missense_Mutation_p.H4293N|NEB_ENST00000409198.1_Missense_Mutation_p.H4293N|NEB_ENST00000603639.1_Missense_Mutation_p.H5994N|NEB_ENST00000427231.2_Missense_Mutation_p.H5994N|NEB_ENST00000604864.1_Missense_Mutation_p.H5994N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6014					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTGTTTTGTGATAGTCCTCT	0.438000													6	120					0.00307968	0.00353472	0.278610	1	0
NPAS4	266743	broad.mit.edu	37	11	66190263	66190263	+	Silent	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:66190263A>C	ENST00000311034.2	+	4	725	c.549A>C	c.(547-549)gcA>gcC	p.A183A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	183					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTACTGGGCAGGAAATCCCG	0.627000													6	273					0	0	0.217242	0	0
DST	667	broad.mit.edu	37	6	56470331	56470331	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:56470331A>T	ENST00000370754.5	-	39	8995	c.8996T>A	c.(8995-8997)cTc>cAc	p.L2999H	DST_ENST00000361203.3_Missense_Mutation_p.L2821H|DST_ENST00000312431.6_Missense_Mutation_p.L2821H|DST_ENST00000370769.4_Missense_Mutation_p.L2821H|DST_ENST00000446842.2_Missense_Mutation_p.L2495H|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2821					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTTAATGAGATCGCTTCC	0.388000													17	415					0	0	0.500413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881987	228881987	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:228881987A>G	ENST00000392056.3	-	7	3629	c.3583T>C	c.(3583-3585)Tac>Cac	p.Y1195H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1195H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1195						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGTACCTGTAGAACTCCTCA	0.567000													6	210					0	0	0.248553	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994823	140994823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:140994823C>G	ENST00000285879.4	+	4	1919	c.1633C>G	c.(1633-1635)Cct>Gct	p.P545A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	545							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGTCTCCTCACTACTT	0.562000										HNSCC(15;0.026)			41	790					0	0	0.853193	0	0
ENAM	10117	broad.mit.edu	37	4	71509995	71509995	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:71509995C>A	ENST00000396073.3	+	9	3133	c.2852C>A	c.(2851-2853)aCg>aAg	p.T951K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	951					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GATGTGTCCACGCTGAGGAGG	0.448000													7	173					0.0381472	0.0402768	0.278610	1	0
LINC00521	256369	broad.mit.edu	37	14	94464490	94464490	+	RNA	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:94464490G>A	ENST00000444118.1	+	0	170					NR_024182.1																						GGCAGCCATGGACACAGGCCA	0.572000													5	81					0	0	0.248553	0	0
CPA5	93979	broad.mit.edu	37	7	130002782	130002782	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:130002782A>G	ENST00000485477.1	+	8	1823	c.694A>G	c.(694-696)Atc>Gtc	p.I232V	CPA5_ENST00000474905.1_Missense_Mutation_p.I232V|CPA5_ENST00000466363.2_Missense_Mutation_p.I232V|CPA5_ENST00000461828.1_Missense_Mutation_p.I232V|CPA5_ENST00000431780.2_Missense_Mutation_p.I232V|CPA5_ENST00000393213.3_Missense_Mutation_p.I232V|CPA5_ENST00000355388.3_Missense_Mutation_p.I232V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	232					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGCCATGGACATCTTCATAGA	0.527000													12	91					0	0	0.411799	0	0
ZIC3	7547	broad.mit.edu	37	X	136651060	136651060	+	Splice_Site	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:136651060G>A	ENST00000287538.5	+	2	1610		c.e2-1		ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Splice_Site	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3						cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCCTTTTGCAGGTGAGAAACC	0.532000													32	624					0	0	0.760397	0	0
TINAG	27283	broad.mit.edu	37	6	54212271	54212271	+	Silent	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:54212271T>C	ENST00000259782.4	+	6	951	c.855T>C	c.(853-855)aaT>aaC	p.N285N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	285					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGATGCAATAGTGGAAGCA	0.443000													7	105					0	0	0.248553	0	0
ATP8B1	5205	broad.mit.edu	37	18	55317718	55317718	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr18:55317718T>C	ENST00000536015.1	-	27	3531	c.3412A>G	c.(3412-3414)Aac>Gac	p.N1138D	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.N1138D|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1138					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCAGAGCGTTTGAAGCTGTG	0.453000													4	92					0	0	0.184627	0	0
GALNT14	79623	broad.mit.edu	37	2	31215753	31215753	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:31215753T>G	ENST00000349752.5	-	2	889	c.250A>C	c.(250-252)Agt>Cgt	p.S84R	GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.S84R|GALNT14_ENST00000406653.1_Missense_Mutation_p.S64R|GALNT14_ENST00000420311.2_Missense_Mutation_p.S49R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	84						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATCCGCTCACTCTCCCGCTGG	0.557000													10	181					0	0	0.335167	0	0
USH2A	7399	broad.mit.edu	37	1	216256929	216256929	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:216256929C>G	ENST00000366943.2	-	26	5554		c.e26-1		RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Splice_Site|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		TCCAGGAACCCTTTAAAGATA	0.358000										HNSCC(13;0.011)			6	156					0	0	0.217242	0	0
SBF1	6305	broad.mit.edu	37	22	50898555	50898555	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:50898555G>A	ENST00000380817.2	-	26	3500	c.3317C>T	c.(3316-3318)cCg>cTg	p.P1106L	SBF1_ENST00000390679.3_Missense_Mutation_p.P1106L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1107L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1106					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGAGGACGGGGTCAGCGT	0.677000													6	119					0	0	0.248553	0	0
ANK2	287	broad.mit.edu	37	4	114195692	114195692	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:114195692G>T	ENST00000357077.4	+	15	1623	c.1570G>T	c.(1570-1572)Gat>Tat	p.D524Y	ANK2_ENST00000264366.6_Missense_Mutation_p.D524Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D524Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D503Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	524					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCTCATCCAGATGCGGCCAC	0.532000													9	133					0.00448238	0.00509095	0.307466	1	0
HOXD10	3236	broad.mit.edu	37	2	176981682	176981682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:176981682G>T	ENST00000249501.4	+	1	376	c.121G>T	c.(121-123)Gca>Tca	p.A41S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	41						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACCACCTAGCGCAGACATGGG	0.478000													12	205					0.010729	0.011967	0.387290	1	0
C1orf110	339512	broad.mit.edu	37	1	162825463	162825463	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:162825463C>T	ENST00000367912.1	-	3	444	c.270G>A	c.(268-270)caG>caA	p.Q90Q	C1orf110_ENST00000367910.1_Silent_p.Q91Q|C1orf110_ENST00000524691.1_5'UTR|C1orf110_ENST00000367911.2_Silent_p.Q86Q			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	91										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCTGCCTTCCCTGTGGTGAGA	0.418000													5	66					0	0	0.217242	0	0
BCHE	590	broad.mit.edu	37	3	165548106	165548106	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:165548106G>T	ENST00000264381.3	-	2	882	c.716C>A	c.(715-717)cCt>cAt	p.P239H	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	239					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATGGCTTCCAGGAGAAAGCAA	0.433000													15	135					1.52009e-12	2.55305e-12	0.479597	1	0
SPTB	6710	broad.mit.edu	37	14	65240072	65240072	+	Missense_Mutation	SNP	G	G	A	rs111611921		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:65240072G>A	ENST00000389722.3	-	24	5097	c.5044C>T	c.(5044-5046)Cgc>Tgc	p.R1682C	SPTB_ENST00000556626.1_Missense_Mutation_p.R1682C|SPTB_ENST00000542895.1_Missense_Mutation_p.R1682C|SPTB_ENST00000389720.3_Missense_Mutation_p.R1682C|SPTB_ENST00000389721.5_Missense_Mutation_p.R1682C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1682					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGCGCTTGCGCTCTTCCGCC	0.547000													14	230					0	0	0.457914	0	0
ALOX15B	247	broad.mit.edu	37	17	7943288	7943288	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:7943288C>A	ENST00000380183.4	+	3	575	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	ALOX15B_ENST00000573359.1_Missense_Mutation_p.Q146K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.Q146K|ALOX15B_ENST00000572022.1_Missense_Mutation_p.Q146K	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	146	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCAGGCCCGGCAGGAGATGTA	0.612000													9	122					2.17888e-05	2.77138e-05	0.335167	1	0
NXF3	56000	broad.mit.edu	37	X	102334747	102334747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:102334747G>T	ENST00000395065.3	-	13	1205	c.1104C>A	c.(1102-1104)taC>taA	p.Y368*	NXF3_ENST00000425644.1_Nonsense_Mutation_p.Y40*|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	368	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTCATCGTGGTAAGCACTAA	0.552000													13	282					1.3612e-06	1.8679e-06	0.479597	1	0
CCNA1	8900	broad.mit.edu	37	13	37014267	37014267	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:37014267C>T	ENST00000418263.1	+	6	1392	c.1042C>T	c.(1042-1044)Ctt>Ttt	p.L348F	CCNA1_ENST00000255465.4_Missense_Mutation_p.L349F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L305F|CCNA1_ENST00000449823.1_Missense_Mutation_p.L305F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	349					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)		CCAGTTTCTCCTTCAGTACTT	0.463000													8	236					0	0	0.335167	0	0
MPPED2	744	broad.mit.edu	37	11	30439065	30439065	+	Splice_Site	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:30439065C>G	ENST00000448418.2	-	5	1012	c.652_splice	c.e5+1	p.G218_splice	MPPED2_ENST00000358117.5_Splice_Site_p.G218_splice|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	218					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTCACTTACCTAGAGGAGGT	0.443000													4	90					0	0	0.150653	0	0
PPL	5493	broad.mit.edu	37	16	4935802	4935802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:4935802G>A	ENST00000345988.2	-	22	2943	c.2854C>T	c.(2854-2856)Cag>Tag	p.Q952*	PPL_ENST00000590782.2_Nonsense_Mutation_p.Q950*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	952					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGCTGCAGCTGCTGGAAGCTC	0.622000													12	303					0	0	0.387290	0	0
OR51M1	390059	broad.mit.edu	37	11	5411020	5411020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:5411020C>A	ENST00000328611.3	+	1	414	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	131						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGATGTCCTTTGACCGC	0.498000													19	477					1.77063e-15	3.06862e-15	0.693898	1	0
DFNB59	494513	broad.mit.edu	37	2	179319148	179319148	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:179319148G>T	ENST00000409117.3	+	3	657	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	DFNB59_ENST00000375129.4_Missense_Mutation_p.G101W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	101					sensory perception of sound			p.G101R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGACGTTGGGATTAACGT	0.338000													6	146					0.0293803	0.031248	0.248553	1	0
ANO4	121601	broad.mit.edu	37	12	101430894	101430894	+	Missense_Mutation	SNP	A	A	G	rs148799316		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:101430894A>G	ENST00000392979.3	+	9	1119	c.758A>G	c.(757-759)aAt>aGt	p.N253S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.N288S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	288						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGCTTACCAATGGCTCCTAT	0.358000										HNSCC(74;0.22)			16	270					0	0	0.500413	0	0
VILL	50853	broad.mit.edu	37	3	38043985	38043985	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:38043985G>T	ENST00000283713.6	+	14	1844	c.1578G>T	c.(1576-1578)gtG>gtT	p.V526V	VILL_ENST00000465644.1_Silent_p.V244V|VILL_ENST00000383759.2_Silent_p.V526V			O15195	VILL_HUMAN	villin-like	526					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCATGGAGGTGCCAGCCCGTG	0.577000													10	181					1.58986e-06	2.15449e-06	0.361761	1	0
TG	7038	broad.mit.edu	37	8	133978845	133978845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:133978845G>T	ENST00000220616.4	+	30	5629	c.5589G>T	c.(5587-5589)caG>caT	p.Q1863H	TG_ENST00000377869.1_Missense_Mutation_p.Q1806H|TG_ENST00000519543.1_Missense_Mutation_p.Q17H|TG_ENST00000542445.1_Missense_Mutation_p.Q233H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1863					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTCAACCAGGTCATTGTCA	0.448000													9	151					0.00448238	0.00509095	0.307466	1	0
CPAMD8	27151	broad.mit.edu	37	19	17058031	17058031	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:17058031T>C	ENST00000443236.1	-	21	2687	c.2656A>G	c.(2656-2658)Atg>Gtg	p.M886V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	839						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGAGCTTCATGTACACCTGC	0.602000													36	406					0	0	0.834066	0	0
SNAPC1	6617	broad.mit.edu	37	14	62242818	62242818	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:62242818G>C	ENST00000216294.4	+	5	644	c.540G>C	c.(538-540)atG>atC	p.M180I	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	180	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTAGGAAATGCTGAATGTTC	0.338000													3	61					0	0	0.115264	0	0
NAT8	9027	broad.mit.edu	37	2	73868350	73868350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:73868350G>C	ENST00000272425.3	-	2	555	c.406C>G	c.(406-408)Cgg>Ggg	p.R136G		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	136	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGCTGCAACCGCTTCTCCCTC	0.582000													16	151					0	0	0.500413	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688383	26688383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:26688383G>T	ENST00000529632.2	+	2	302	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E36*|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	36						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTCTTCCCGAGGGAGATGC	0.567000													3	41					0.00024832	0.00030173	0.150653	1	0
ITGA8	8516	broad.mit.edu	37	10	15714727	15714727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:15714727A>T	ENST00000378076.3	-	7	1051	c.698T>A	c.(697-699)gTt>gAt	p.V233D		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	233					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GATATCTGCAACACTGGCAGT	0.443000													7	140					0	0	0.307466	0	0
LGI2	55203	broad.mit.edu	37	4	25014061	25014061	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:25014061T>C	ENST00000382114.4	-	7	901	c.716A>G	c.(715-717)aAg>aGg	p.K239R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	239						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACATCGTTCTTGGAGTTGAA	0.458000													13	176					0	0	0.411799	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022860	131022860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:131022860G>A	ENST00000421699.2	-	17	1573	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	521						Golgi cisterna membrane	protein binding	p.R509C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ATTTGCCTGCGCGCCTCCGCC	0.662000													25	385					0	0	0.740014	0	0
RHAG	6005	broad.mit.edu	37	6	49578836	49578836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:49578836C>A	ENST00000371175.4	-	7	994	c.968G>T	c.(967-969)aGg>aTg	p.R323M	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	323					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATCATGGATCCTCAGTTTAGT	0.433000													11	160					2.80697e-09	4.29941e-09	0.387290	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011572	46011572	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr21:46011572G>A	ENST00000400368.1	-	1	814	c.794C>T	c.(793-795)cCc>cTc	p.P265L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	265	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GTGCTGGCAGGGGGAGGAGGT	0.647000													30	433					0	0	0.750413	0	0
CACNG5	27091	broad.mit.edu	37	17	64880918	64880918	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:64880918C>G	ENST00000169565.3	+	4	710	c.710C>G	c.(709-711)tCc>tGc	p.S237C	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTTCCTCATCCCAGAATGTG	0.617000													5	128					0	0	0.184627	0	0
EFNA3	1944	broad.mit.edu	37	1	155057860	155057860	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:155057860G>T	ENST00000368408.3	+	2	492	c.422G>T	c.(421-423)gGc>gTc	p.G141V	EFNA3_ENST00000505139.1_Missense_Mutation_p.G136V|EFNA3_ENST00000418360.2_Missense_Mutation_p.G141V|EFNA3_ENST00000556931.1_Missense_Mutation_p.G136V	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	141					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCCACGCCGGCCACGAGTAC	0.667000													5	40					0.014758	0.01613	0.184627	1	0
OR2M4	26245	broad.mit.edu	37	1	248402922	248402922	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:248402922G>C	ENST00000306687.1	+	1	692	c.692G>C	c.(691-693)gGg>gCg	p.G231A		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGCTCTGGGGAAAGTCGT	0.488000													5	119					0	0	0.184627	0	0
CDR1	1038	broad.mit.edu	37	X	139865804	139865804	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:139865804G>T	ENST00000370532.2	-	1	919	c.728C>A	c.(727-729)aCa>aAa	p.T243K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	243										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GTCAATCAGTGTCTTCCAGAA	0.423000													7	335					2.7689e-08	4.06915e-08	0.248553	1	0
PARP2	10038	broad.mit.edu	37	14	20825826	20825826	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:20825826C>G	ENST00000250416.5	+	16	1649	c.1622C>G	c.(1621-1623)gCa>gGa	p.A541G	PARP2_ENST00000429687.3_Missense_Mutation_p.A528G|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	541	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTAGGACCAGCAAGTGACACA	0.418000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					6	143					0	0	0.248553	0	0
ACAN	176	broad.mit.edu	37	15	89398156	89398156	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:89398156G>A	ENST00000439576.2	+	12	2714	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V	ACAN_ENST00000561243.1_Silent_p.V780V|ACAN_ENST00000559004.1_Silent_p.V780V|ACAN_ENST00000352105.7_Silent_p.V780V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	780					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAACTGAAGTGCCCTCTGCCT	0.562000													3	24					0	0	0.115264	0	0
RBM14	10432	broad.mit.edu	37	11	66392896	66392896	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:66392896C>A	ENST00000310137.4	+	2	1688	c.1549C>A	c.(1549-1551)Cgc>Agc	p.R517S	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	517	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCTCCTTACCGCACTCAGTC	0.652000													4	138					0.184627	0.189865	0.184627	1	0
PMPCB	9512	broad.mit.edu	37	7	102939050	102939050	+	Silent	SNP	A	A	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:102939050A>C	ENST00000249269.4	+	2	173	c.135A>C	c.(133-135)acA>acC	p.T45T	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Silent_p.T45T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	45					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGAAGTACACAGGCTGCTA	0.398000													19	321					0	0	0.557998	0	0
ASXL2	55252	broad.mit.edu	37	2	25965339	25965339	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:25965339G>A	ENST00000435504.4	-	13	4160	c.3867C>T	c.(3865-3867)ttC>ttT	p.F1289F	ASXL2_ENST00000404843.1_Silent_p.F772F|ASXL2_ENST00000336112.4_Silent_p.F1261F|ASXL2_ENST00000272341.4_Silent_p.F772F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAGAACTGAAAAGCTCGG	0.542000													6	30					0	0	0.217242	0	0
LDB2	9079	broad.mit.edu	37	4	16760782	16760782	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:16760782G>C	ENST00000502640.1	-	2	382	c.235_splice	c.e2+1	p.Y78_splice	LDB2_ENST00000304523.5_Splice_Site_p.Y78_splice|LDB2_ENST00000441778.2_Splice_Site_p.Y78_splice|LDB2_ENST00000515064.1_Splice_Site_p.Y78_splice			O43679	LDB2_HUMAN	LIM domain binding 2	78							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTTTCTTACTGTATCGCTTTG	0.418000													4	105					0	0	0.184627	0	0
PSAT1	29968	broad.mit.edu	37	9	80919793	80919793	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:80919793G>C	ENST00000376588.3	+	4	402	c.334G>C	c.(334-336)Gca>Cca	p.A112P	PSAT1_ENST00000347159.2_Missense_Mutation_p.A112P	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	112					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AGCTAAGGCCGCAGAAGAAGC	0.507000													10	164					0	0	0.387290	0	0
CDH23	64072	broad.mit.edu	37	10	73468917	73468917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:73468917G>T	ENST00000224721.6	+	26	3189	c.3184G>T	c.(3184-3186)Ggc>Tgc	p.G1062C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1057	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACCGTGGTGGGCCTGGACCG	0.607000													5	123					0.000602214	0.000719679	0.184627	1	0
B3GNT3	10331	broad.mit.edu	37	19	17919025	17919025	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:17919025C>A	ENST00000318683.6	+	2	556	c.409C>A	c.(409-411)Cgg>Agg	p.R137R	B3GNT3_ENST00000595387.1_Silent_p.R137R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	137					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGCAAGGTACGGGGTTTGCA	0.677000													7	89					0.248553	0.252029	0.248553	1	0
SIRT1	23411	broad.mit.edu	37	10	69648737	69648737	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:69648737G>A	ENST00000212015.6	+	3	698	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	215	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CACCTGAGTTGGATGATATGA	0.343000													6	121					0	0	0.217242	0	0
ACTA1	58	broad.mit.edu	37	1	229568737	229568737	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:229568737G>A	ENST00000366684.3	-	2	228	c.126C>T	c.(124-126)caC>caT	p.H42H	ACTA1_ENST00000366683.2_Silent_p.H42H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	42			H -> Y (in NEM3; severe).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCCTGACCTGGTGTCGGGGGC	0.721000													10	93					0	0	0.361761	0	0
MARCO	8685	broad.mit.edu	37	2	119729105	119729105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:119729105C>T	ENST00000541757.1	+	5	601	c.221C>T	c.(220-222)gCc>gTc	p.A74V	MARCO_ENST00000327097.4_Missense_Mutation_p.A152V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	152					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GAACAAGGCGCCCCAGGTAGG	0.577000													10	195					0	0	0.411799	0	0
MYOF	26509	broad.mit.edu	37	10	95148890	95148890	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:95148890A>G	ENST00000371501.4	-	18	1600	c.1478T>C	c.(1477-1479)gTa>gCa	p.V493A	MYOF_ENST00000371502.4_Missense_Mutation_p.V493A|MYOF_ENST00000358334.5_Missense_Mutation_p.V480A|MYOF_ENST00000359263.4_Missense_Mutation_p.V493A			Q9NZM1	MYOF_HUMAN	myoferlin	493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACAAAGCCTACCTCTGTTTC	0.393000													4	89					0	0	0.150653	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247093	89247093	+	RNA	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:89247093A>T	ENST00000496168.1	-	0	257																											AGACTGGGTCATCTGGATGTC	0.453000													20	283					0	0	0.608945	0	0
NUP153	9972	broad.mit.edu	37	6	17629516	17629516	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:17629516C>A	ENST00000262077.2	-	18	2913	c.2914G>T	c.(2914-2916)Gtt>Ttt	p.V972F	NUP153_ENST00000537253.1_Missense_Mutation_p.V1003F	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	972					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTTTTTTAACTTCTTCGGGC	0.328000													4	111					0.00909568	0.0101713	0.150653	1	0
COL23A1	91522	broad.mit.edu	37	5	177677090	177677090	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:177677090G>T	ENST00000390654.3	-	18	1388	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	344	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TGGGGCACCGGGCAATCCAAG	0.562000													7	158					5.18039e-06	6.87034e-06	0.278610	1	0
DAB2	1601	broad.mit.edu	37	5	39382719	39382719	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:39382719C>A	ENST00000545653.1	-	9	1809		c.e9+1		DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Splice_Site|DAB2_ENST00000320816.6_Splice_Site	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)						cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGACAATTCACCTTAGCAGTC	0.493000													10	200					1.36491e-13	2.32838e-13	0.435327	1	0
PXDNL	137902	broad.mit.edu	37	8	52325775	52325775	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:52325775G>T	ENST00000356297.4	-	15	1939	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	PXDNL_ENST00000543296.1_Silent_p.S613S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	613					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCAAGAATGGAAGATTCAA	0.353000													6	92					0.00198382	0.00230738	0.248553	1	0
OTUD6A	139562	broad.mit.edu	37	X	69283109	69283109	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:69283109C>A	ENST00000338352.2	+	1	769	c.735C>A	c.(733-735)atC>atA	p.I245I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	245	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTGATCATCGGGGAGGAGT	0.647000													5	103					0.184627	0.189865	0.184627	1	0
GPC5	2262	broad.mit.edu	37	13	92346009	92346009	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:92346009G>T	ENST00000377067.3	+	3	1266	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	298						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATATCCGGTCGTTGGAAGAAC	0.507000													10	192					6.40141e-05	8.00176e-05	0.387290	1	0
TEX15	56154	broad.mit.edu	37	8	30695549	30695549	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:30695549T>A	ENST00000256246.2	-	3	7176	c.7102A>T	c.(7102-7104)Aac>Tac	p.N2368Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2368										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTATTTTGTTTTCGCTTTTG	0.318000													6	189					0	0	0.217242	0	0
CD300C	10871	broad.mit.edu	37	17	72541913	72541913	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:72541913G>A	ENST00000330793.1	-	1	369	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	3					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCAGGCCCTGGCAGTCATTC	0.597000													4	28					0	0	0.184627	0	0
FAM71B	153745	broad.mit.edu	37	5	156589752	156589752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:156589752C>A	ENST00000302938.4	-	2	1619	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	508						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGTTCTCGACTCCTTTTTGG	0.478000													9	133					0.00448238	0.00509095	0.307466	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178444	74178444	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:74178444G>T	ENST00000300504.2	+	7	688	c.605G>T	c.(604-606)gGc>gTc	p.G202V	TBC1D21_ENST00000562056.1_Missense_Mutation_p.G165V|TBC1D21_ENST00000535547.2_Missense_Mutation_p.G166V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	202	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ATCAACATTGGCGTGGCCAAG	0.572000													10	127					9.31168e-06	1.22745e-05	0.435327	1	0
DPF3	8110	broad.mit.edu	37	14	73198546	73198546	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr14:73198546G>A	ENST00000541685.1	-	4	410	c.398C>T	c.(397-399)gCc>gTc	p.A133V	DPF3_ENST00000556509.1_Missense_Mutation_p.A133V|DPF3_ENST00000546183.1_Missense_Mutation_p.A143V	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	133					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCTCCCTGGCATCCACCTT	0.572000													3	29					0	0	0.184627	0	0
C4orf21	55345	broad.mit.edu	37	4	113553107	113553107	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:113553107C>G	ENST00000505019.1	-	3	206	c.81G>C	c.(79-81)aaG>aaC	p.K27N	C4orf21_ENST00000445203.2_5'UTR|C4orf21_ENST00000309071.5_Missense_Mutation_p.K27N	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	27										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGTGAGTGATCTTCAGAATTC	0.323000													4	96					0	0	0.150653	0	0
METTL2B	55798	broad.mit.edu	37	7	128128171	128128171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:128128171G>T	ENST00000480046.1	+	4	545	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F	METTL2B_ENST00000262432.8_Missense_Mutation_p.V209F			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	209							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGACTCTTTGTTTATTGCTG	0.383000													6	124					1.6384e-10	2.64946e-10	0.248553	1	0
MTR	4548	broad.mit.edu	37	1	236990189	236990189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:236990189C>T	ENST00000366577.5	+	11	1382	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	MTR_ENST00000535889.1_Missense_Mutation_p.H330Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	330	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AACACCAGATCATATCAGGTA	0.363000													5	102					0	0	0.184627	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133634	91133634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:91133634G>T	ENST00000373094.1	+	2	3240	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.E799*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.E799*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	799					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAAATACTGAGATAGCTGA	0.443000													7	224					2.0095e-06	2.71469e-06	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179597694	179597694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:179597694G>C	ENST00000589042.1	-	55	16433	c.16209C>G	c.(16207-16209)taC>taG	p.Y5403*	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y5086*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y4159*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5086	Ig-like 34.						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)			ATGCTATCCTGTATCTGTCAG	0.473000													4	78					0	0	0.150653	0	0
LRRC66	339977	broad.mit.edu	37	4	52861972	52861972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:52861972G>A	ENST00000343457.3	-	4	1222	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	406						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CACTTTTTTTGCCACAGTCTG	0.557000													8	126					0	0	0.278610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602919	13602919	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:13602919C>A	ENST00000040738.5	-	10	5740	c.5605G>T	c.(5605-5607)Gat>Tat	p.D1869Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1869							DNA binding										GTCACAACATCCTCCCCTTCC	0.458000													11	183					1.58986e-06	2.15449e-06	0.361761	1	0
L1CAM	3897	broad.mit.edu	37	X	153129865	153129865	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153129865C>A	ENST00000370060.1	-	25	3423	c.3234G>T	c.(3232-3234)tgG>tgT	p.W1078C	L1CAM_ENST00000370055.1_Missense_Mutation_p.W1073C|L1CAM_ENST00000361981.3_Missense_Mutation_p.W1073C|L1CAM_ENST00000543994.1_Missense_Mutation_p.W1080C|L1CAM_ENST00000538883.1_Missense_Mutation_p.W1080C|L1CAM_ENST00000370057.3_Missense_Mutation_p.W1078C|L1CAM_ENST00000361699.4_Missense_Mutation_p.W1078C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1078	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.W1078*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAGGTCCCACTGCGTGT	0.582000													18	377					2.4624e-09	3.81189e-09	0.575678	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956339	128956339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:128956339C>A	ENST00000274487.4	+	9	1634	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	497	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAATGACCACCCATCGTGTGC	0.353000													4	147					0.150653	0.156034	0.150653	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247092	89247092	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:89247092C>A	ENST00000496168.1	-	0	258																											GAGACTGGGTCATCTGGATGT	0.458000													20	283					3.8784e-16	6.74842e-16	0.608945	1	0
SYDE2	84144	broad.mit.edu	37	1	85666104	85666104	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:85666104C>T	ENST00000341460.5	-	1	625	c.576G>A	c.(574-576)caG>caA	p.Q192Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	192					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACATCCACTTCTGCAGCTTCT	0.622000													5	337					0	0	0.217242	0	0
FAM188B	84182	broad.mit.edu	37	7	30830815	30830815	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:30830815C>T	ENST00000265299.6	+	5	775	c.698C>T	c.(697-699)tCa>tTa	p.S233L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	233										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACGGTCCTCACCGTCAAGC	0.527000													19	355					0	0	0.557998	0	0
LSP1	4046	broad.mit.edu	37	11	1904651	1904651	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:1904651C>T	ENST00000406638.2	+	4	1475	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LSP1_ENST00000405957.2_Missense_Mutation_p.P58L|LSP1_ENST00000381775.1_Missense_Mutation_p.P248L|LSP1_ENST00000311604.3_Missense_Mutation_p.P120L|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	120					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACCCACAGGCCCGGCCTGCAT	0.562000													4	142					0	0	0.217242	0	0
OR51G2	81282	broad.mit.edu	37	11	4936782	4936782	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:4936782A>T	ENST00000322013.3	-	1	140	c.112T>A	c.(112-114)Ttc>Atc	p.F38I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATACATGAAGCACAGTGGG	0.502000													9	204					0	0	0.335167	0	0
MYO3A	53904	broad.mit.edu	37	10	26243912	26243912	+	Missense_Mutation	SNP	G	G	C	rs143501410		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr10:26243912G>C	ENST00000265944.5	+	4	444	c.278G>C	c.(277-279)gGa>gCa	p.G93A	MYO3A_ENST00000376302.1_Missense_Mutation_p.G93A|MYO3A_ENST00000543632.1_Missense_Mutation_p.G93A|MYO3A_ENST00000376301.1_Missense_Mutation_p.G93A	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	93	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAGTAAATGGAGACAAGCTG	0.368000													17	272					0	0	0.539581	0	0
ABCG8	64241	broad.mit.edu	37	2	44079786	44079786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:44079786C>A	ENST00000272286.2	+	6	833	c.743C>A	c.(742-744)gCc>gAc	p.A248D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	248	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCACAGCCCACAACCTG	0.582000													17	217					4.7546e-09	7.18143e-09	0.500413	1	0
OR7C1	26664	broad.mit.edu	37	19	14910760	14910760	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:14910760G>T	ENST00000248073.2	-	1	263	c.189C>A	c.(187-189)ctC>ctA	p.L63L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	63					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACAGGTTGGAGAGGAAGAAGT	0.473000													18	179					1.2644e-06	1.74056e-06	0.592651	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													9	383					3.86212e-05	4.84156e-05	0.361761	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146277	5146277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:5146277C>A	ENST00000274181.7	+	3	348	c.210C>A	c.(208-210)caC>caA	p.H70Q	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H70Q|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	70					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGTTGACCACAGGGGCGATT	0.512000													5	114					0.0293803	0.031248	0.248553	1	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:7578235T>A	ENST00000420246.2	-	6	746	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000269305.4_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	91					0	0	0.150653	0	0
TAF15	8148	broad.mit.edu	37	17	34171535	34171535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:34171535G>T	ENST00000588240.1	+	15	1347	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	TAF15_ENST00000311979.3_Missense_Mutation_p.R408I|TAF15_ENST00000592237.1_Missense_Mutation_p.R320I	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	411	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CGTGGGGGCAGAggtggagac	0.587000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								8	172					0.0381472	0.0402768	0.278610	1	0
GPR137B	7107	broad.mit.edu	37	1	236368531	236368531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:236368531C>A	ENST00000366592.3	+	6	1163	c.1072C>A	c.(1072-1074)Cct>Act	p.P358T	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	358						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAACATTGCCCCTCAGGGACT	0.468000													26	505					2.12542e-12	3.54236e-12	0.706142	1	0
AMER1	139285	broad.mit.edu	37	X	63411357	63411357	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:63411357A>T	ENST00000330258.3	-	2	2082	c.1810T>A	c.(1810-1812)Tat>Aat	p.Y604N	AMER1_ENST00000374869.3_Missense_Mutation_p.Y604N|AMER1_ENST00000403336.1_Missense_Mutation_p.Y604N	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCTGCCATAAGCCTCTCGA	0.642000													9	104					0	0	0.335167	0	0
DLX5	1749	broad.mit.edu	37	7	96653652	96653652	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:96653652T>C	ENST00000222598.4	-	1	757	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	DLX5_ENST00000486603.2_Missense_Mutation_p.Y95C|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	95					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGCGTAGCTATAGTCGGCATA	0.607000													8	106					0	0	0.278610	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332481	130332481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:130332481C>A	ENST00000299164.2	+	4	1348	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	450	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCAGTGCGAGCTGGCTTTTGG	0.642000													6	157					5.9392e-07	8.30724e-07	0.217242	1	0
S1PR1	1901	broad.mit.edu	37	1	101705593	101705593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:101705593C>A	ENST00000305352.6	+	2	1428	c.1053C>A	c.(1051-1053)agC>agA	p.S351R		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	351					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGGAATTCAGCCGCAGCAAAT	0.547000													23	261					1.22574e-08	1.82601e-08	0.624587	1	0
SAGE1	55511	broad.mit.edu	37	X	134992285	134992285	+	Missense_Mutation	SNP	A	A	T	rs148235147		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:134992285A>T	ENST00000535938.1	+	15	1987	c.1820A>T	c.(1819-1821)aAt>aTt	p.N607I	SAGE1_ENST00000324447.3_Missense_Mutation_p.N607I|SAGE1_ENST00000537770.1_Missense_Mutation_p.N231I|SAGE1_ENST00000370709.3_Missense_Mutation_p.N607I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	607										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCATTTATTAATATGGCAGCA	0.418000													10	268					0	0	0.361761	0	0
SCN11A	11280	broad.mit.edu	37	3	38938614	38938614	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:38938614C>G	ENST00000302328.3	-	14	2323	c.2125G>C	c.(2125-2127)Gtc>Ctc	p.V709L	SCN11A_ENST00000444237.2_Missense_Mutation_p.V709L|SCN11A_ENST00000456224.3_Missense_Mutation_p.V709L|SCN11A_ENST00000450244.1_Missense_Mutation_p.V709L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	709					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)	ATCACAATGACCAGGACCACA	0.473000													6	85					0	0	0.217242	0	0
GBA3	57733	broad.mit.edu	37	4	22749300	22749300	+	RNA	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr4:22749300C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGTCTCTATCACTTTTTGCG	0.433000													16	317					0	0	0.539581	0	0
PDE6A	5145	broad.mit.edu	37	5	149323768	149323768	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:149323768C>T	ENST00000255266.5	-	1	588	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	157	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTACCTCCTCTGTGTTGGGG	0.557000													9	304					0	0	0.361761	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931356	102931356	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:102931356G>C	ENST00000423833.2	-	3	1825	c.600C>G	c.(598-600)taC>taG	p.Y200*	MORF4L2_ENST00000372620.1_Nonsense_Mutation_p.Y82*|MORF4L2_ENST00000360458.1_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000433176.2_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000422154.2_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000451301.1_Nonsense_Mutation_p.Y200*|MORF4L2_ENST00000441076.2_Nonsense_Mutation_p.Y200*			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	200					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TCTCAAATTTGTAGAGCAGCT	0.423000													14	151					0	0	0.457914	0	0
GRB7	2886	broad.mit.edu	37	17	37902042	37902042	+	Splice_Site	SNP	G	G	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:37902042G>C	ENST00000309156.4	+	12	1527		c.e12+1		GRB7_ENST00000394211.3_Splice_Site|GRB7_ENST00000445327.2_Splice_Site|GRB7_ENST00000309185.3_Splice_Site|GRB7_ENST00000394204.1_Splice_Site|GRB7_ENST00000394209.2_Splice_Site	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7						blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCAGTGCAGGTGGGTGACGG	0.637000													4	194					0	0	0.150653	0	0
DENND3	22898	broad.mit.edu	37	8	142185371	142185371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:142185371C>T	ENST00000519811.1	+	14	2418	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	DENND3_ENST00000424248.1_Missense_Mutation_p.A651V|DENND3_ENST00000262585.2_Missense_Mutation_p.A703V			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	703										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGCAGAAGCCCAGGAGGTC	0.478000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	204					0	0	0.278610	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958348	88958348	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:88958348G>T	ENST00000268679.4	-	5	1049	c.653C>A	c.(652-654)tCc>tAc	p.S218Y	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S132Y|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.S142Y|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S193Y|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S132Y	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	218	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTGAAGCTTGGAATGAAACTC	0.597000			T	RUNX1	AML								6	42					0.0293803	0.031248	0.248553	1	0
F8	2157	broad.mit.edu	37	X	154221273	154221273	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:154221273T>A	ENST00000360256.4	-	4	739	c.539A>T	c.(538-540)cAt>cTt	p.H180L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	180	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.H180R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGGTCCACATGAGAAAGATA	0.458000													14	383					0	0	0.457914	0	0
IRF8	3394	broad.mit.edu	37	16	85954779	85954779	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:85954779T>A	ENST00000268638.5	+	9	1594	c.1172T>A	c.(1171-1173)aTg>aAg	p.M391K	IRF8_ENST00000562492.1_Missense_Mutation_p.M187K	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	391					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCTCTGTGATGCAGGCCCCC	0.552000													7	101					0	0	0.248553	0	0
ZNF160	90338	broad.mit.edu	37	19	53571739	53571739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr19:53571739C>A	ENST00000601421.1	-	3	2816	c.1940G>T	c.(1939-1941)gGc>gTc	p.G647V	ZNF160_ENST00000418871.1_Missense_Mutation_p.G683V|ZNF160_ENST00000599056.1_Missense_Mutation_p.G683V|ZNF160_ENST00000429604.1_Missense_Mutation_p.G683V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	683					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)		GAAGACCTTGCCACATTGATT	0.433000													14	269					1.49906e-05	1.94654e-05	0.457914	1	0
SLC19A2	10560	broad.mit.edu	37	1	169446397	169446397	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:169446397T>A	ENST00000236137.5	-	2	1039	c.803A>T	c.(802-804)gAa>gTa	p.E268V	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	268					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GCTTACCGGTTCCTCCACGGG	0.478000													17	232					0	0	0.539581	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667315	33667315	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:33667315C>A	ENST00000321505.4	+	16	4782	c.4602C>A	c.(4600-4602)ggC>ggA	p.G1534G	KIAA1549L_ENST00000389726.3_Silent_p.G1540G					KIAA1549-like																		AGGTGAAAGGCCACTCGGAGA	0.577000													6	256					0.00116845	0.00137744	0.217242	1	0
TPK1	27010	broad.mit.edu	37	7	144288615	144288615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:144288615C>A	ENST00000549981.1	-	9	774	c.51G>T	c.(49-51)caG>caT	p.Q17H	TPK1_ENST00000360057.3_Missense_Mutation_p.Q134H|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	134					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATGCCATAATCTGGTCAAAAC	0.438000													7	178					5.18039e-06	6.87034e-06	0.278610	1	0
OR2A2	442361	broad.mit.edu	37	7	143807226	143807226	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:143807226T>A	ENST00000408979.2	+	1	620	c.551T>A	c.(550-552)cTc>cAc	p.L184H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTGTCTGTCCTCAAGCTGGCC	0.512000													12	262					0	0	0.411799	0	0
OR6T1	219874	broad.mit.edu	37	11	123813939	123813939	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:123813939A>G	ENST00000321252.2	-	1	641	c.607T>C	c.(607-609)Tct>Cct	p.S203P		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCAACGTAGAGAGCATGAAA	0.542000													6	146					0	0	0.217242	0	0
FAM26F	441168	broad.mit.edu	37	6	116784478	116784478	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:116784478C>A	ENST00000368605.1	+	3	653	c.558C>A	c.(556-558)atC>atA	p.I186I	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Silent_p.I14I	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	186						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAGTTGTTATCATCATTCTTC	0.353000													16	225					6.49762e-13	1.09553e-12	0.539581	1	0
GAB3	139716	broad.mit.edu	37	X	153928279	153928279	+	Splice_Site	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:153928279C>A	ENST00000369575.3	-	5	1153	c.1122_splice	c.e5+1	p.L374_splice	GAB3_ENST00000424127.2_Splice_Site_p.L375_splice|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	374										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGAACTTACCAAATTCAAAC	0.378000													9	210					1.12685e-05	1.47645e-05	0.307466	1	0
SLC5A4	6527	broad.mit.edu	37	22	32635034	32635034	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr22:32635034C>T	ENST00000266086.4	-	6	532	c.521G>A	c.(520-522)gGa>gAa	p.G174E	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	174					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGGTCCAATCCCAAGGCCAG	0.448000													6	91					0	0	0.217242	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363000													3	43					0	0	0.115264	0	0
HOXA1	3198	broad.mit.edu	37	7	27134302	27134302	+	Silent	SNP	C	C	A	rs138651027	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:27134302C>A	ENST00000343060.4	-	2	826	c.765G>T	c.(763-765)acG>acT	p.T255T	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	255						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCGGGCGCGCGTCAGGTACT	0.562000													6	239					0.217242	0.221312	0.217242	1	0
COL6A3	1293	broad.mit.edu	37	2	238273009	238273009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:238273009C>A	ENST00000295550.4	-	13	6353	c.5901G>T	c.(5899-5901)gaG>gaT	p.E1967D	COL6A3_ENST00000346358.4_Missense_Mutation_p.E1767D|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1360D|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1761D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1761D|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1766D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1967	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCGGAGGTTCTCAGATGCTC	0.483000													6	107					8.12818e-05	0.000101022	0.248553	1	0
MOB3B	79817	broad.mit.edu	37	9	27455459	27455459	+	Silent	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:27455459C>A	ENST00000262244.5	-	2	514	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	30							metal ion binding|protein binding										CCCGTTTGTGCAGCTCAAACC	0.547000													20	280					1.2644e-06	1.74056e-06	0.592651	1	0
PMFBP1	83449	broad.mit.edu	37	16	72156877	72156877	+	Missense_Mutation	SNP	C	C	G	rs145484256		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:72156877C>G	ENST00000537465.1	-	19	2877	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E757Q|PMFBP1_ENST00000537792.1_Missense_Mutation_p.E68Q|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E902Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	907										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTAGTTTCTCATTGGCGACC	0.532000													12	77					0	0	0.411799	0	0
CPS1	1373	broad.mit.edu	37	2	211512672	211512672	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:211512672T>A	ENST00000233072.5	+	26	3423	c.3227T>A	c.(3226-3228)aTg>aAg	p.M1076K	CPS1_ENST00000430249.2_Missense_Mutation_p.M1082K|CPS1_ENST00000451903.2_Missense_Mutation_p.M625K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1076					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTCAAGATCATGGGCACAAGC	0.517000													7	194					0	0	0.248553	0	0
OR10S1	219873	broad.mit.edu	37	11	123847628	123847628	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:123847628G>T	ENST00000531945.1	-	1	860	c.771C>A	c.(769-771)gcC>gcA	p.A257A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTGAGCTGGGCAGTGCAGG	0.617000													20	160					4.35082e-09	6.6175e-09	0.592651	1	0
PLOD3	8985	broad.mit.edu	37	7	100855185	100855185	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:100855185C>A	ENST00000223127.3	-	11	1572	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	392					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGTCGGCGTCCAGGCTGAAG	0.652000													3	43					0.115264	0.120528	0.115264	1	0
CCDC19	25790	broad.mit.edu	37	1	159860280	159860280	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:159860280G>T	ENST00000426543.2	-	3	462	c.7C>A	c.(7-9)Cga>Aga	p.R3R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.R88R			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	88						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATGAGTTCTCGGACCATGTCC	0.517000													16	227					2.48551e-13	4.22342e-13	0.520397	1	0
MMS22L	253714	broad.mit.edu	37	6	97627327	97627327	+	Silent	SNP	C	C	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:97627327C>T	ENST00000275053.4	-	17	2758	c.2493G>A	c.(2491-2493)ggG>ggA	p.G831G	MMS22L_ENST00000369251.2_Silent_p.G791G	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	831					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATCATCAGGCCCAGAGAGGT	0.393000													7	142					0	0	0.278610	0	0
TEFM	79736	broad.mit.edu	37	17	29227411	29227411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr17:29227411T>C	ENST00000580840.1	-	3	701	c.665A>G	c.(664-666)cAg>cGg	p.Q222R	TEFM_ENST00000581216.1_Intron			Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	222					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GGTAGGAATCTGGAGGTGCAA	0.408000													12	127					0	0	0.435327	0	0
PAPPA	5069	broad.mit.edu	37	9	118950088	118950088	+	Silent	SNP	G	G	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr9:118950088G>A	ENST00000328252.3	+	2	1440	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	357	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACCGCGTGGTCAACCTCT	0.547000													5	78					0	0	0.184627	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914523	147914523	+	Missense_Mutation	SNP	C	C	T	rs139930720		TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr7:147914523C>T	ENST00000361727.3	+	19	3670	c.3154C>T	c.(3154-3156)Cgc>Tgc	p.R1052C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R111C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1052					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)			GGAGGAGATCCGCTTCAGCTT	0.572000										HNSCC(39;0.1)			6	230					0	0	0.248553	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267908	125267908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr11:125267908C>A	ENST00000298282.9	+	7	809	c.538C>A	c.(538-540)Cta>Ata	p.L180I	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.L116I	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGAATGATCTAGGGGGGCC	0.537000													16	202					3.52763e-06	4.7216e-06	0.520397	1	0
NAV1	89796	broad.mit.edu	37	1	201618285	201618285	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:201618285G>T	ENST00000367296.4	+	1	909	c.489G>T	c.(487-489)ccG>ccT	p.P163P	NAV1_ENST00000367302.1_Silent_p.P176P|NAV1_ENST00000295624.6_Silent_p.P163P|NAV1_ENST00000367300.3_Silent_p.P163P|NAV1_ENST00000367297.4_Silent_p.P163P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	163					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTGGCTCCGCTCGCGCCCA	0.682000													4	59					0.014758	0.01613	0.184627	1	0
KLHL36	79786	broad.mit.edu	37	16	84693368	84693368	+	Silent	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:84693368G>T	ENST00000564996.1	+	4	1281	c.1140G>T	c.(1138-1140)gtG>gtT	p.V380V	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	380										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCCACAGGTGGCCTCCATGA	0.582000													7	203					0.000157383	0.000193943	0.278610	1	0
KCNB2	9312	broad.mit.edu	37	8	73848698	73848698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr8:73848698G>T	ENST00000523207.1	+	3	1696	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	370					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGTATCCCTGCATCATTTTG	0.433000													11	254					0.00829132	0.00934384	0.361761	1	0
ARID1A	8289	broad.mit.edu	37	1	27107095	27107096	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:27107095_27107096delCG	ENST00000324856.7	+	20	7077_7078	c.6706_6707delCG	c.(6706-6708)cfs	p.R2236fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.R2019fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.R564fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1853fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2236					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGGCTGCCCGCGCGCTGCTT	0.584			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	209	---	---	---	---					
DENND2C	163259	broad.mit.edu	37	1	115168040	115168040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:115168040delT	ENST00000393274.1	-	4	1191	c.566delA	c.(565-567)agfs	p.K189fs	DENND2C_ENST00000393277.1_Frame_Shift_Del_p.K189fs|DENND2C_ENST00000393276.3_Frame_Shift_Del_p.K189fs	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	189										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAAGCTCTTGGTTATTCC	0.383													7	186	---	---	---	---					
S100A6	6277	broad.mit.edu	37	1	153507806	153507821	+	Translation_Start_Site	DEL	GGCATGCCATGGCTGA	GGCATGCCATGGCTGA	-	rs147817499	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr1:153507806_153507821delGGCATGCCATGGCTGA	ENST00000496817.1	-	0	297_312				S100A6_ENST00000368719.4_Start_Codon_Del|S100A6_ENST00000368720.2_Start_Codon_Del			P06703	S10A6_HUMAN	S100 calcium binding protein A6						axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATCCAGGGGGCATGCCATGGCTGAGGGCTGGGCT	0.616													7	187	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179579865	179579866	+	Frame_Shift_Ins	INS	-	-	GTTC			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:179579865_179579866insGTTC	ENST00000589042.1	-	90	26271_26272	c.26047_26048insGAAC	c.(26047-26049)tagfs	p.*8683fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.*8366fs|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.*7439fs|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8366	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGCTCCTAAGTTCTCTCTTG	0.436													9	528	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218750492	218750492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr2:218750492delC	ENST00000171887.4	-	13	1168	c.716delG	c.(715-717)gafs	p.G239fs	TNS1_ENST00000419504.1_Frame_Shift_Del_p.G239fs|TNS1_ENST00000430930.1_Frame_Shift_Del_p.G239fs|TNS1_ENST00000310858.6_Frame_Shift_Del_p.G270fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	239	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAAGAGCAGTCCTGGCTCGAT	0.527													11	238	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	2	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	356	---	---	---	---					
GABRB3	2562	broad.mit.edu	37	15	27184456	27184456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr15:27184456delC	ENST00000541819.2	-	1	230	c.128delG	c.(127-129)tcfs	p.C43fs	GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000335625.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACAGCCAGGCAAATCCAGAG	0.572													22	308	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													10	411	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74537634	74537635	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr16:74537634_74537635insAT	ENST00000422840.2	-	4	567_568	c.568_569insAT	c.(568-570)tgcfs	p.C190fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.C190fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.C179fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	190						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCATCAGCACATTCTTTAATC	0.381													15	194	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													9	713	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													7	145	---	---	---	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			8	140	---	---	---	---					
ASB11	140456	broad.mit.edu	37	X	15301748	15301748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:15301748delG	ENST00000537676.1	-	7	860	c.788delC	c.(787-789)cafs	p.P264fs	ASB11_ENST00000344384.4_Frame_Shift_Del_p.P264fs|ASB11_ENST00000380470.3_Frame_Shift_Del_p.P268fs|ASB11_ENST00000480796.1_Frame_Shift_Del_p.P285fs			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	285					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAGAGCAGGTGGGCCTGAGAG	0.512													9	195	---	---	---	---					
MAGEE1	57692	broad.mit.edu	37	X	75648744	75648744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:75648744delC	ENST00000361470.2	+	1	699	c.421delC	c.(421-423)cgfs	p.P142fs		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	142	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCAGGCCGCCCACTTC	0.682													11	153	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-10B-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	f193ea02-8fb1-460d-902b-5a1ee31a4ead	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			8	295	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27107095	27107096	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:27107095_27107096delCG	ENST00000324856.7	+	20	7077_7078	c.6706_6707delCG	c.(6706-6708)cfs	p.R2236fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.R564fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.R2019fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1853fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2236					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGGCTGCCCGCGCGCTGCTT	0.584			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	209	---	---	---	---					
DENND2C	163259	broad.mit.edu	37	1	115168040	115168040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:115168040delT	ENST00000393274.1	-	4	1191	c.566delA	c.(565-567)agfs	p.K189fs	DENND2C_ENST00000393277.1_Frame_Shift_Del_p.K189fs|DENND2C_ENST00000393276.3_Frame_Shift_Del_p.K189fs	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	189										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAAGCTCTTGGTTATTCC	0.383													7	186	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													11	60	---	---	---	---					
S100A6	6277	broad.mit.edu	37	1	153507806	153507821	+	Translation_Start_Site	DEL	GGCATGCCATGGCTGA	GGCATGCCATGGCTGA	-	rs147817499	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr1:153507806_153507821delGGCATGCCATGGCTGA	ENST00000496817.1	-	0	297_312				S100A6_ENST00000368719.4_Start_Codon_Del|S100A6_ENST00000368720.2_Start_Codon_Del			P06703	S10A6_HUMAN	S100 calcium binding protein A6						axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATCCAGGGGGCATGCCATGGCTGAGGGCTGGGCT	0.616													7	187	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179579865	179579866	+	Frame_Shift_Ins	INS	-	-	GTTC			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr2:179579865_179579866insGTTC	ENST00000589042.1	-	90	26271_26272	c.26047_26048insGAAC	c.(26047-26049)tagfs	p.*8683fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.*8366fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.*7439fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8366	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGCTCCTAAGTTCTCTCTTG	0.436													9	528	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													8	142	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	643	---	---	---	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													8	355	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													8	581	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													7	128	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	356	---	---	---	---					
EBPL	84650	broad.mit.edu	37	13	50235208	50235209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr13:50235208_50235209insA	ENST00000242827.6	-	4	566_567	c.516_517insT	c.(514-519)ttacggfs	p.LR172fs	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	172					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACACACCGTTAAAAAAAAACA	0.480													7	126	---	---	---	---					
GABRB3	2562	broad.mit.edu	37	15	27184456	27184456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:27184456delC	ENST00000541819.2	-	1	230	c.128delG	c.(127-129)tcfs	p.C43fs	GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000335625.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACAGCCAGGCAAATCCAGAG	0.572													22	308	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)gafs	p.G279fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	279					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592													7	122	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													8	516	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74537634	74537635	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chr16:74537634_74537635insAT	ENST00000422840.2	-	4	567_568	c.568_569insAT	c.(568-570)tgcfs	p.C190fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.C190fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.C179fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	190						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCATCAGCACATTCTTTAATC	0.381													15	194	---	---	---	---					
ASB11	140456	broad.mit.edu	37	X	15301748	15301748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:15301748delG	ENST00000537676.1	-	7	860	c.788delC	c.(787-789)cafs	p.P264fs	ASB11_ENST00000480796.1_Frame_Shift_Del_p.P285fs|ASB11_ENST00000344384.4_Frame_Shift_Del_p.P264fs|ASB11_ENST00000380470.3_Frame_Shift_Del_p.P268fs			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	285					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAGAGCAGGTGGGCCTGAGAG	0.512													9	195	---	---	---	---					
MAGEE1	57692	broad.mit.edu	37	X	75648744	75648744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:75648744delC	ENST00000361470.2	+	1	699	c.421delC	c.(421-423)cgfs	p.P142fs		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	142	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCAGGCCGCCCACTTC	0.682													11	153	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-8299-01A-11D-2284-08	TCGA-55-8299-11A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15e097e3-e468-466c-8e57-b59fba90bbf2	7602d1ba-1121-4932-9fc7-a6b2703cb418	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			8	295	---	---	---	---					
