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
ESF1	51575	broad.mit.edu	37	20	13695734	13695734	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:13695734C>T	ENST00000202816.1	-	14	2450	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	781	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTTTGTTTTCTTGAAATTGG	0.393000													30	56					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58475848	58475848	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:58475848G>A	ENST00000357552.3	-	17	1433	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S403L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	403					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTGGCAACTGAAATACCTTG	0.328000													6	25					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10626777	10626777	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:10626777G>A	ENST00000379597.3	+	3	1702	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	GCNT2_ENST00000495262.1_Silent_p.L382L|GCNT2_ENST00000410107.1_Silent_p.L96L|GCNT2_ENST00000265012.4_Silent_p.L382L|GCNT2_ENST00000316170.3_Silent_p.L380L|GCNT2_ENST00000397423.2_3'UTR			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	382						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCTAGAACTGAGGCATCGCG	0.448000													24	44					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9989914	9989914	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:9989914C>A	ENST00000256190.8	-	14	1711	c.1574G>T	c.(1573-1575)tGt>tTt	p.C525F		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	525					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGGCACAACACATTTCTTTTC	0.403000													16	61					2.35188e-11	2.5471e-11	1	1	0
DHX36	170506	broad.mit.edu	37	3	154022956	154022956	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:154022956G>A	ENST00000496811.1	-	7	975	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	DHX36_ENST00000329463.5_Splice_Site_p.R299W|DHX36_ENST00000308361.6_Splice_Site_p.R299W|DHX36_ENST00000544526.1_Splice_Site_p.R299W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	299	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTGGCAACCGACTGTGAATG	0.353000													9	29					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27275923	27275923	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:27275923G>A	ENST00000360131.4	+	2	256	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	AGBL5_ENST00000323064.8_Missense_Mutation_p.E33K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	33					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGATGGGGAAGGGGTAGG	0.562000													15	42					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	57994582	57994582	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:57994582C>T	ENST00000357272.4	+	1	456	c.291C>T	c.(289-291)atC>atT	p.I97I	FLNB_ENST00000490882.1_Splice_Site_p.I97I|FLNB_ENST00000295956.4_Splice_Site_p.I97I|FLNB_ENST00000358537.3_Splice_Site_p.I97I|FLNB_ENST00000429972.2_Splice_Site_p.I97I|FLNB_ENST00000348383.5_Splice_Site_p.I97I			O75369	FLNB_HUMAN	filamin B, beta	97	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGTGTCCATCGGTGAGTTCT	0.682000													37	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411584	179411584	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:179411584G>A	ENST00000589042.1	-	341	94795	c.94571C>T	c.(94570-94572)tCa>tTa	p.S31524L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29883L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22584L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22651L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28956L|TTN_ENST00000460472.2_Missense_Mutation_p.S22459L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29883	Ig-like 140.						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)			CCAAATCAGTGATACTGTTGA	0.488000													6	16					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859866	54859866	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:54859866C>G	ENST00000333896.5	+	16	4074	c.3689C>G	c.(3688-3690)tCa>tGa	p.S1230*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.S1243*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1243					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)			AACATCAACTCAGATCGCATC	0.512000													15	15					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83349453	83349453	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr15:83349453C>T	ENST00000261722.3	-	8	1033	c.826G>A	c.(826-828)Gag>Aag	p.E276K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E244K|AP3B2_ENST00000535359.1_Missense_Mutation_p.E276K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	276					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCTTGGCCTCGTCCTCCTCT	0.682000													5	12					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152511	56152511	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:56152511G>A	ENST00000399503.3	+	2	567	c.567G>A	c.(565-567)ctG>ctA	p.L189L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	189			L -> P (in SRXY6; increases phosphorylation of the downstream target MAPK3/MAPK1 compared to wild-type and enhances binding of RHOA to the mutant MAP3K1 complex).|L -> R (in SRXY6; increases phosphorylation of the downstream targets MAPK14 and MAPK3/MAPK1 compared to wild- type and enhances binding of RHOA to the mutant MAP3K1 complex).		cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGGAGAAACTGAAGGCAACCT	0.473000													8	65					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													3	15					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446675	120446675	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:120446675G>A	ENST00000222747.3	-	7	1147	c.540C>T	c.(538-540)tcC>tcT	p.S180S	TSPAN12_ENST00000415871.1_Silent_p.S180S	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	180					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TAACACAGCAGGAATCTGGGG	0.433000													10	64					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37292016	37292016	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:37292016C>G	ENST00000231498.3	-	35	4365	c.4162G>C	c.(4162-4164)Gaa>Caa	p.E1388Q	NUP155_ENST00000513532.1_Missense_Mutation_p.E1324Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E1329Q|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1388					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAAGCCGTTCTAATTTAGCT	0.378000													14	294					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139948	34139948	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34139948G>C	ENST00000257829.3	+	8	884	c.678G>C	c.(676-678)gaG>gaC	p.E226D	NAT10_ENST00000527971.1_Missense_Mutation_p.E226D|NAT10_ENST00000531159.2_Missense_Mutation_p.E154D	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	226						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGTAGGATGAGAGTCTTGGTC	0.552000													3	21					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89186255	89186255	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:89186255G>A	ENST00000608933.1	-	6	1274	c.885C>T	c.(883-885)ctC>ctT	p.L295L	PPM1K_ENST00000295908.7_Intron|PPM1K_ENST00000508256.1_Silent_p.L76L	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CATCTGTGGTGAGGACCAGGA	0.438000													24	58					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70764810	70764810	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:70764810T>A	ENST00000361983.4	+	3	636	c.534T>A	c.(532-534)agT>agA	p.S178R		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	178					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGGTTGGGAGTCCTCCTCTTG	0.398000													11	23					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643300	207643300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:207643300C>T	ENST00000367057.3	+	6	1267	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	CR2_ENST00000367059.3_Nonsense_Mutation_p.R360*|CR2_ENST00000458541.2_Nonsense_Mutation_p.R360*|CR2_ENST00000367058.3_Nonsense_Mutation_p.R360*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	360	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTAAGAGGCCGAATGGTATC	0.498000													10	42					0	0	1	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556412	22556412	+	RNA	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr22:22556412G>C	ENST00000390286.2	+	0	238																											CTCAGACTCAGACAAGCAGCT	0.542000											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	94					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64356520	64356520	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:64356520C>T	ENST00000262043.3	+	2	404	c.64C>T	c.(64-66)Cta>Tta	p.L22L	PHF3_ENST00000393387.1_Silent_p.L22L|PHF3_ENST00000509330.1_Silent_p.L22L			Q92576	PHF3_HUMAN	PHD finger protein 3	22					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCCCTATTTCTAGGATCCAA	0.388000													15	47					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7951144	7951144	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:7951144G>C	ENST00000380183.4	+	13	1901	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	ALOX15B_ENST00000380173.2_Missense_Mutation_p.E559Q|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E514Q|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E576Q	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	588	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						GGCAACATGCGAGGGCTTCAT	0.592000													14	7					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885404	77885404	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:77885404G>C	ENST00000354212.4	-	10	2156	c.1903C>G	c.(1903-1905)Cag>Gag	p.Q635E	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q635E|MAGI2_ENST00000536571.1_Missense_Mutation_p.Q467E|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q635E|MAGI2_ENST00000535697.1_Missense_Mutation_p.Q472E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	635	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGCATCCCTGAATGTCAAGT	0.478000													12	15					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76853720	76853720	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:76853720C>T	ENST00000262768.7	-	4	647	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TIMP2_ENST00000586057.1_Missense_Mutation_p.E40K|TIMP2_ENST00000585421.1_Missense_Mutation_p.E40K|TIMP2_ENST00000536189.2_Missense_Mutation_p.E40K	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	117	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CCGTCCCCCTCGGCCTTTCCT	0.627000													11	20					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384169	20384169	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:20384169G>A	ENST00000302451.4	-	7	1121	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	291					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						GCTGAATTATGATACCATATG	0.428000													19	60					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102464205	102464205	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:102464205C>T	ENST00000260228.2	-	8	1224	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	404	Hemopexin-like 3.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AAAGGGTCTTCTGTGGCTCCC	0.383000													14	43					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402183	89402183	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr15:89402183G>C	ENST00000439576.2	+	12	6741	c.6367G>C	c.(6367-6369)Gat>Cat	p.D2123H	ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2123					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)			CAGCAGAGAAGATTCTGGGTC	0.547000													6	30					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:123909464G>A	ENST00000330487.5	-	1	253	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GGACACCAAGGTCATCAGCAT	0.532000													7	99					0	0	1	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154763	23154763	+	RNA	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr22:23154763G>C	ENST00000390315.2	+	0	367																											TCAACAGACAGCAGTGGTAAT	0.532000													19	17					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116420374	116420374	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:116420374C>T	ENST00000281928.3	-	22	5196	c.4990G>A	c.(4990-4992)Gag>Aag	p.E1664K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1664					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTCAGGCTCCGTGGGAATT	0.463000													8	29					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20792027	20792027	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:20792027C>G	ENST00000300005.3	-	11	966	c.924G>C	c.(922-924)agG>agC	p.R308S	ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000440284.2_Intron|ACSM3_ENST00000289416.5_Intron	NM_080663.2	NP_542394.2	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	0						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TGTAGTTTTTCCTTTGCAGAC	0.408000													41	69					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421823	124421823	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:124421823C>T	ENST00000545135.1	-	3	4023	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CCDC92_ENST00000545891.1_Missense_Mutation_p.E243K|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.E260K			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	260										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGGGGCCTCTCTTTGATGAGG	0.652000													6	35					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113530256	113530256	+	Silent	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:113530256G>C	ENST00000416899.2	+	8	1203	c.1077G>C	c.(1075-1077)ctG>ctC	p.L359L	MUSK_ENST00000189978.5_Silent_p.L359L|MUSK_ENST00000374448.4_Silent_p.L359L			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	359	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGAATGAACTGAAAGTAGTGA	0.537000													22	37					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113601646	113601646	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:113601646C>G	ENST00000358160.4	+	6	999	c.507C>G	c.(505-507)atC>atG	p.I169M	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	169						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACCTCAGTATCTTTAGGTTGT	0.343000													19	58					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109445721	109445721	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chrX:109445721C>G	ENST00000262844.5	-	4	910	c.743G>C	c.(742-744)gGa>gCa	p.G248A	AMMECR1_ENST00000372057.1_Missense_Mutation_p.G125A|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G211A	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	248	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCGTTTTGATCCTTTTTCATT	0.358000													13	20					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190863	152190863	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:152190863G>C	ENST00000368801.2	-	3	3317	c.3242C>G	c.(3241-3243)tCt>tGt	p.S1081C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1081					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)			TCCTGATGTAGAACCGTGTTG	0.557000													113	327					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220075192	220075192	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:220075192C>T	ENST00000265316.3	-	17	2578	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	ABCB6_ENST00000439002.2_Silent_p.T708T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	754	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCGCTGACGTTGCCTATA	0.542000													8	19					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70611554	70611554	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:70611554G>A	ENST00000370952.3	-	15	1817	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	580								p.P580T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCTGCTCGAGGAACTCGGAAT	0.348000													6	40					0	0	1	0	0
LOC647264	647264	broad.mit.edu	37	13	64321060	64321060	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:64321060G>T	ENST00000453638.2	+	1	127	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C																	endometrium(2)|lung(1)|urinary_tract(1)	4						ctacagctgtggctatggctg	0.557000													10	19					0.00621372	0.0062825	1	1	0
USP32	84669	broad.mit.edu	37	17	58365912	58365912	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:58365912G>A	ENST00000300896.4	-	5	737	c.543C>T	c.(541-543)ttC>ttT	p.F181F	USP32_ENST00000393003.3_Silent_p.F181F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	181					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAGTTTGGTAGAAAGTAGGAG	0.348000													21	63					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195778984	195778984	+	Silent	SNP	G	G	A	rs146993606	by1000genomes	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:195778984G>A	ENST00000360110.4	-	19	2281	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.S422S|TFRC_ENST00000420415.1_Silent_p.S623S|TFRC_ENST00000392396.3_Silent_p.S704S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	704	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTGAGAGCCGGAGCCCCAGA	0.463000			T	BCL6	NHL								7	32					0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99226441	99226441	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:99226441G>A	ENST00000409975.1	+	1	1400	c.270G>A	c.(268-270)acG>acA	p.T90T	UNC50_ENST00000357765.2_Silent_p.T73T|UNC50_ENST00000409347.1_Silent_p.T90T			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	73					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						GAAAACAGACGAAGGACCAGT	0.453000													10	55					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66286164	66286164	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:66286164C>T	ENST00000273854.3	-	6	2122	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	EPHA5_ENST00000354839.4_Missense_Mutation_p.E508K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E344K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E508K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	508	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTACCTTTTCAAAATACTTG	0.323000										TSP Lung(17;0.13)			16	33					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641255	112641255	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:112641255G>A	ENST00000393104.2	+	4	635	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PDCD4_ENST00000280154.7_Missense_Mutation_p.R103Q	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	103					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGATAGGCGATCCAGATCT	0.473000													10	25					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651906	36651906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:36651906C>T	ENST00000405375.1	+	2	263	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.Q44*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	10					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGATGTCCGTCAGAACCCATG	0.637000													4	5					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966033	87966033	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:87966033G>A	ENST00000369577.3	+	8	2729	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E891K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	896				E -> V (in Ref. 3; BAB14622).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGCAAAGCAGAATCAGCTGT	0.403000													10	23					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34160786	34160786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34160786G>A	ENST00000257829.3	+	22	2466	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.D682N	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	754	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GACGCTCACTGATGAGGATGA	0.542000													32	55					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85587495	85587495	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:85587495T>C	ENST00000294664.6	+	18	2159	c.1979T>C	c.(1978-1980)aTg>aCg	p.M660T	WDR63_ENST00000370596.1_Missense_Mutation_p.M621T|WDR63_ENST00000326813.8_Missense_Mutation_p.M621T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	660										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGCCGACTTATGTGTAAGTTT	0.378000													30	22					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2046709	2046709	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:2046709C>G	ENST00000262113.4	+	19	2477	c.2336C>G	c.(2335-2337)tCa>tGa	p.S779*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.S204*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	779	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACGGAAGGCTCACTCTACGAG	0.522000													6	15					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128640575	128640575	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:128640575G>A	ENST00000393245.1	-	7	1292	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	TNPO3_ENST00000471234.1_Missense_Mutation_p.L307F|TNPO3_ENST00000265388.5_Missense_Mutation_p.L307F|TNPO3_ENST00000471166.1_Missense_Mutation_p.L307F|TNPO3_ENST00000482320.1_Missense_Mutation_p.L241F	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	307					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATTTTTTCAAGAAAAGTTTCA	0.413000													12	58					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131495738	131495738	+	Missense_Mutation	SNP	G	G	A	rs145832178		TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:131495738G>A	ENST00000291900.2	-	15	2616	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	737					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CCGTGCGGTCGCCATCTTAAT	0.567000											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	55					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288711	77288711	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:77288711G>A	ENST00000388914.3	-	11	1718	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	522										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCCGGGAGCGGAGCTTTGTGA	0.498000													8	50					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907183	139907183	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:139907183C>T	ENST00000265662.5	-	31	5209	c.5062G>A	c.(5062-5064)Gac>Aac	p.D1688N	ABCA2_ENST00000341511.6_Missense_Mutation_p.D1688N|ABCA2_ENST00000371605.3_Missense_Mutation_p.D1687N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1687					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAAGCGGTCGGAGGTGAAG	0.657000													10	42					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341433	55341433	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:55341433G>A	ENST00000391728.4	+	8	1189	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E291K|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E386K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E369K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E369K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCCAACAGCGAGGTAGGTGC	0.562000													4	104					0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204623	50204623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:50204623C>T	ENST00000282026.1	+	2	375	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	14					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GGCGGAAGCCCAGGTGGTGAT	0.582000													10	39					0	0	1	0	0
HBQ1	3049	broad.mit.edu	37	16	231052	231052	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:231052C>T	ENST00000199708.2	+	3	408	c.374C>T	c.(373-375)tCg>tTg	p.S125L		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	125						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTGCAGGCGTCGCTGGACAAG	0.682000													8	29					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191861852	191861852	+	Silent	SNP	A	A	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:191861852A>G	ENST00000445105.2	-	6	737	c.492T>C	c.(490-492)agT>agC	p.S164S	FGF12_ENST00000264730.3_Silent_p.S164S|FGF12_ENST00000430714.1_Silent_p.S127S|FGF12_ENST00000450716.1_Silent_p.S164S|FGF12_ENST00000454309.2_Silent_p.S226S	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTGTTCCAGAACTTTTCCTTG	0.418000													21	131					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104872911	104872911	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:104872911C>G	ENST00000393141.2	-	5	631	c.600G>C	c.(598-600)aaG>aaC	p.K200N	CASP5_ENST00000531367.1_Missense_Mutation_p.K45N|CASP5_ENST00000260315.3_Missense_Mutation_p.K187N|CASP5_ENST00000526056.1_Missense_Mutation_p.K200N|CASP5_ENST00000393139.2_Missense_Mutation_p.E118Q|CASP5_ENST00000418434.1_Missense_Mutation_p.K45N|CASP5_ENST00000444749.2_Missense_Mutation_p.K129N	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	187					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCCTCTCTCTTTTTTATTG	0.443000													13	31					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144464670	144464670	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:144464670G>C	ENST00000283131.3	+	15	2374	c.1912G>C	c.(1912-1914)Gtg>Ctg	p.V638L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	638	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGGGAGGCTTGTGGATCAGAA	0.328000													12	27					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													6	169					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25059420	25059420	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:25059420G>A	ENST00000376707.3	-	3	706	c.672C>T	c.(670-672)aaC>aaT	p.N224N	VSX1_ENST00000376709.4_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GGAATGACACGTTCTCTGTGG	0.522000													21	95					0	0	1	0	0
SNAPIN	23557	broad.mit.edu	37	1	153633684	153633684	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:153633684G>A	ENST00000368685.5	+	4	408	c.318G>A	c.(316-318)ctG>ctA	p.L106L	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	106					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAACGACTGAGACGGCTAA	0.493000													3	33					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076597	40076597	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:40076597C>A	ENST00000324616.5	+	8	1025	c.871C>A	c.(871-873)Ctt>Att	p.L291I	C12orf40_ENST00000398716.1_Missense_Mutation_p.L214I|C12orf40_ENST00000405531.3_Missense_Mutation_p.L291I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	291										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TACTCCTAACCTTCTATCAGA	0.313000													11	48					0.00010058	0.000102832	1	1	0
MGAM	8972	broad.mit.edu	37	7	141750572	141750572	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:141750572C>T	ENST00000475668.2	+	24	2767	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F	MGAM_ENST00000549489.2_Missense_Mutation_p.L905F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	905	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTAAAATTCTTGGGACGGA	0.383000													19	40					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209439	44209439	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:44209439C>G	ENST00000260665.7	-	2	341	c.284G>C	c.(283-285)cGa>cCa	p.R95P	LRPPRC_ENST00000409946.1_Missense_Mutation_p.R95P|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R95P	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	95					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCAGTTCTTCGAACAGAAAG	0.378000													8	55					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9802407	9802407	+	Silent	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:9802407G>C	ENST00000256460.3	-	8	855	c.678C>G	c.(676-678)ctC>ctG	p.L226L	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	226	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCTGTTCAAAGAGTTTGGCAT	0.527000													6	56					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524060	187524060	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:187524060G>A	ENST00000441802.2	-	20	11688	c.11479C>T	c.(11479-11481)Cca>Tca	p.P3827S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3827	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCTCACCTGGGCACTGACCA	0.433000										HNSCC(5;0.00058)			10	30					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19422283	19422283	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr22:19422283G>A	ENST00000333130.3	+	3	815	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	54					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAAAAAAGAAGAAGGTAGATC	0.368000													11	39					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113783854	113783854	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:113783854C>T	ENST00000375559.3	+	2	197	c.159C>T	c.(157-159)ctC>ctT	p.L53L	F10_ENST00000483537.1_3'UTR|F10_ENST00000409306.1_Silent_p.L53L|F10_ENST00000375551.3_Silent_p.L53L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	53	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGACACCTCGAAAGAGAGT	0.562000													17	46					0	0	1	0	0
NHP2	55651	broad.mit.edu	37	5	177577916	177577916	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:177577916C>A	ENST00000274606.3	-	3	458	c.309G>T	c.(307-309)ttG>ttT	p.L103F	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	103					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						AGACATAGGGCAAATTTCGGT	0.517000													19	171					1.33834e-09	1.43244e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179612720	179612720	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:179612720C>T	ENST00000360870.5	-	46	14629	c.14407G>A	c.(14407-14409)Gaa>Aaa	p.E4803K	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	913	Ig-like 28.						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)			TCTGTATATTCCTGTGTCCCA	0.483000													6	21					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44039740	44039740	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:44039740G>A	ENST00000344290.5	+	2	359	c.37G>A	c.(37-39)Gat>Aat	p.D13N	MAPT_ENST00000446361.3_Missense_Mutation_p.D13N|MAPT_ENST00000262410.5_Missense_Mutation_p.D13N|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.D13N|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000334239.8_Missense_Mutation_p.D13N|MAPT_ENST00000351559.5_Missense_Mutation_p.D13N|MAPT_ENST00000431008.3_Missense_Mutation_p.D13N|MAPT_ENST00000571987.1_Missense_Mutation_p.D13N|MAPT_ENST00000420682.2_Missense_Mutation_p.D13N|MAPT_ENST00000340799.5_Missense_Mutation_p.D13N|MAPT_ENST00000415613.2_Missense_Mutation_p.D13N|MAPT_ENST00000574436.1_Missense_Mutation_p.D13N	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	13					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGTGATGGAAGATCACGCTGG	0.572000													7	20					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510114	71510114	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:71510114G>A	ENST00000396073.3	+	9	3252	c.2971G>A	c.(2971-2973)Gga>Aga	p.G991R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	991					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)			AAATGATCTTGGAGGAGATGG	0.403000													17	76					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804497	115804497	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:115804497G>A	ENST00000369295.2	+	1	692	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	202					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GGCGGGCGGAGAGCGACGAGG	0.692000													5	12					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288732	77288732	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:77288732G>A	ENST00000388914.3	-	11	1697	c.1545C>T	c.(1543-1545)acC>acT	p.T515T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	515										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCTGCATTGGTAGCCTCGA	0.483000													7	54					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49220793	49220793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:49220793G>T	ENST00000301050.2	+	12	1226	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	CACNB3_ENST00000547392.1_Nonsense_Mutation_p.E316*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.E342*|CACNB3_ENST00000540990.1_Nonsense_Mutation_p.E330*|CACNB3_ENST00000547230.1_Nonsense_Mutation_p.E302*	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	343					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GAACCAGCTGGAGGATGCCTG	0.617000													18	84					1.00905e-13	1.10151e-13	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24901993	24901993	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr14:24901993G>T	ENST00000251343.5	+	4	1554	c.1415G>T	c.(1414-1416)cGt>cTt	p.R472L	KHNYN_ENST00000553935.1_Missense_Mutation_p.R472L|KHNYN_ENST00000556842.1_Missense_Mutation_p.R472L			O15037	KHNYN_HUMAN	KH and NYN domain containing	472										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TTCTGGGACCGTGGTCACCGT	0.582000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					1	1	1	1	0
SRSF6	6431	broad.mit.edu	37	20	42089433	42089433	+	Silent	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:42089433G>T	ENST00000244020.3	+	6	871	c.765G>T	c.(763-765)cgG>cgT	p.R255R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	255	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AGTCTGATCGGGGCTCCCATT	0.483000													5	24					0.014758	0.0148665	1	1	0
SART1	9092	broad.mit.edu	37	11	65733594	65733594	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:65733594G>C	ENST00000312397.5	+	8	978	c.886G>C	c.(886-888)Gat>Cat	p.D296H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	296					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAACCTGGTGGATAAGGAGCG	0.612000													4	10					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091192	26091192	+	Missense_Mutation	SNP	G	G	T	rs139523708		TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:26091192G>T	ENST00000357618.5	+	2	322	c.200G>T	c.(199-201)cGt>cTt	p.R67L	HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.R67L|HFE_ENST00000349999.4_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.R67L|HFE_ENST00000488199.1_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.R67L|HFE_ENST00000336625.8_Missense_Mutation_p.R67L|HFE_ENST00000461397.1_Missense_Mutation_p.R67L|HFE_ENST00000352392.4_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.R44L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	67	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGTCGCCGTGTGGAGCCC	0.512000									Hemochromatosis				20	46					3.83957e-06	4.06194e-06	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77288872	77288872	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:77288872G>C	ENST00000388914.3	-	11	1557	c.1405C>G	c.(1405-1407)Cag>Gag	p.Q469E		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	469										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTCAAGCTGAGCAGTCAAG	0.413000													7	45					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644307	53644307	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:53644307T>C	ENST00000452676.2	-	5	2203	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A	ZNF347_ENST00000334197.7_Missense_Mutation_p.T592A|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T593A	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCTCTCCAGTATGAATTCCC	0.403000													37	101					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958924	25958924	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr15:25958924C>T	ENST00000356865.6	-	10	2352	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	747					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGACATCCTCTTGCGGACGG	0.602000													4	44					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662788	7662788	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:7662788G>C	ENST00000572933.1	+	16	3957	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E833Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	833	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E833K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCATGATGGAGGATGCCCT	0.522000													11	37					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198571355	198571355	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:198571355G>T	ENST00000282276.6	+	1	1269	c.1226G>T	c.(1225-1227)cGa>cTa	p.R409L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	409					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTCTTGAACCGATGCACTGCC	0.547000													24	74					3.08376e-08	3.28775e-08	1	1	0
HBQ1	3049	broad.mit.edu	37	16	231038	231038	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:231038C>T	ENST00000199708.2	+	3	394	c.360C>T	c.(358-360)ccC>ccT	p.P120P		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	120						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACTTCAGCCCCGCGCTGCAGG	0.692000													8	17					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129871678	129871678	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:129871678C>T	ENST00000254667.3	+	17	1821	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PTPRE_ENST00000306042.5_Silent_p.I456I|PTPRE_ENST00000419012.2_Silent_p.I514I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	514	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGAGGATGATCTGGGAATGGA	0.597000													9	23					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207584	58207584	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:58207584C>A	ENST00000377918.3	+	1	930	c.904C>A	c.(904-906)Cta>Ata	p.L302I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	302	Cadherin 3.				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)		CAAGACCGGCCTAATCCGTGT	0.592000													4	24					0.00024832	0.000252936	1	1	0
TFPT	29844	broad.mit.edu	37	19	54610467	54610467	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:54610467C>G	ENST00000391759.1	-	6	1057	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	NDUFA3_ENST00000485876.1_3'UTR|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.E209Q|TFPT_ENST00000391757.1_3'UTR	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	218					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AAGTCTTCCTCAACCTTAATC	0.488000			T	TCF3	pre-B ALL								18	47					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145864	34145864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34145864G>T	ENST00000257829.3	+	11	1230	c.1024G>T	c.(1024-1026)Gag>Tag	p.E342*	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Nonsense_Mutation_p.E270*	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	342						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TCTGGATTATGAGATTATCCA	0.368000													17	35					3.45872e-05	3.57618e-05	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73849283	73849283	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:73849283G>A	ENST00000523207.1	+	3	2281	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	565					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)			AGAAAAGCCTGAGAGGCCATC	0.502000													13	42					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235884083	235884083	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:235884083C>T	ENST00000389794.3	-	40	9612	c.9438G>A	c.(9436-9438)ttG>ttA	p.L3146L	LYST_ENST00000389793.2_Silent_p.L3146L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3146	BEACH.				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)			TTAAGTGAGTCAAATATTCAA	0.378000													19	95					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847986	16847986	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:16847986C>T	ENST00000355661.3	-	10	1034	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G342R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G342R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	342					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TACTGCTCTCCCTCCTGCTCC	0.602000													23	26					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93968002	93968002	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:93968002C>T	ENST00000369303.4	-	11	2109	c.1925G>A	c.(1924-1926)gGa>gAa	p.G642E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	642	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCGAATTCTCCTGAAGTAAC	0.333000													18	70					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3191041	3191041	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:3191041C>T	ENST00000396878.3	+	6	1548	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	ZNF213_ENST00000576416.1_Missense_Mutation_p.S358L|ZNF213_ENST00000416391.2_Missense_Mutation_p.S200L|ZNF213_ENST00000574902.1_Missense_Mutation_p.S358L	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGCAGCTCCTCGGACCTGGTG	0.687000													3	12					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129030	40129030	+	Silent	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:40129030G>C	ENST00000235628.1	-	4	509	c.510C>G	c.(508-510)ctC>ctG	p.L170L		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	170					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGACAAGTAGAGGTTGGTGT	0.527000													32	14					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	41					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94058662	94058662	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:94058662C>G	ENST00000297268.6	+	51	4345	c.3874C>G	c.(3874-3876)Cta>Gta	p.L1292V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1292	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCTGTCATTCTACAGGGCTC	0.458000										HNSCC(75;0.22)			20	34					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44684960	44684960	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:44684960G>C	ENST00000222673.5	+	3	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	OGDH_ENST00000449767.1_Missense_Mutation_p.G86A|OGDH_ENST00000447398.1_Missense_Mutation_p.G86A|OGDH_ENST00000543843.1_Missense_Mutation_p.G26A|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.G86A|OGDH_ENST00000443864.2_Missense_Mutation_p.G86A	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	86					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACGAATGCCGGAGCCCCACCG	0.582000													21	81					0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39601163	39601163	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr14:39601163G>A	ENST00000308317.6	+	8	718	c.635G>A	c.(634-636)gGa>gAa	p.G212E	GEMIN2_ENST00000250379.8_Splice_Site_p.G197E|GEMIN2_ENST00000396249.2_Splice_Site_p.G212E	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	212					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										tttttttaGGGAAGATGGCTT	0.343000													14	34					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	33001576	33001576	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:33001576G>A	ENST00000379825.2	-	1	50	c.27C>T	c.(25-27)tcC>tcT	p.S9S	APTX_ENST00000397172.3_Silent_p.S9S|APTX_ENST00000379813.3_5'UTR|APTX_ENST00000379819.1_Silent_p.S9S|APTX_ENST00000309615.3_Silent_p.S9S|APTX_ENST00000476858.1_Silent_p.S9S			Q7Z2E3	APTX_HUMAN	aprataxin	9	Interactions with ADPRT and NCL.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCCAGAAGTCGGAGACGGACA	0.617000								Editing and processing nucleases					3	14					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919059	86919059	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:86919059T>G	ENST00000370565.4	+	13	2325	c.2163T>G	c.(2161-2163)atT>atG	p.I721M	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	721					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGGTAATATTCAGATGAATG	0.413000													5	25					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167052	140167052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:140167052G>A	ENST00000504120.2	+	1	1177	c.1177G>A	c.(1177-1179)Gtc>Atc	p.V393I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V393I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V393I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCCCACGTCCCCTTCAA	0.587000													16	101					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157823800	157823800	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:157823800G>A	ENST00000389589.4	-	1	149	c.14C>T	c.(13-15)aCg>aTg	p.T5M	SHOX2_ENST00000441443.2_De_novo_Start_InFrame|SHOX2_ENST00000483851.2_Missense_Mutation_p.T5M|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.T5M|RSRC1_ENST00000480820.1_Splice_Site	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	5					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GACGAACGCCGTAAGTTCTTC	0.597000													17	34					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12758794	12758794	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:12758794C>T	ENST00000381774.4	-	4	1134	c.894G>A	c.(892-894)ctG>ctA	p.L298L	CPPED1_ENST00000433677.2_Silent_p.L156L|CPPED1_ENST00000261660.4_3'UTR	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	298							hydrolase activity|metal ion binding	p.L298L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTTTCTCACTCAGCTCATCTA	0.478000													12	76					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237670076	237670076	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:237670076G>A	ENST00000366574.2	+	23	2997	c.2680G>A	c.(2680-2682)Gtt>Att	p.V894I	RYR2_ENST00000360064.6_Missense_Mutation_p.V892I|RYR2_ENST00000542537.1_Missense_Mutation_p.V878I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	894	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAACTCTGGGTTATGAATAA	0.328000													22	12					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86071581	86071581	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:86071581C>G	ENST00000377332.3	-	6	1054	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.E293Q|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.E288Q	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	316					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AAGGCAGTCTCTTTGATGATA	0.428000													4	52					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310143	57310143	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:57310143G>C	ENST00000457912.1	+	2	82	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E10Q|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E10Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	10										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAAGCTCTCTGAGGATGGGAC	0.587000													4	9					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65732636	65732636	+	Silent	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:65732636G>C	ENST00000312397.5	+	4	593	c.501G>C	c.(499-501)ctG>ctC	p.L167L		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	167					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAGAGGAGCTGCGGGAGAAGC	0.662000													6	14					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209195257	209195257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:209195257C>T	ENST00000264380.4	+	23	3960	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1268					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCCTTCTTATCAGTGTCCAAG	0.443000													148	232					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34941817	34941817	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:34941817G>A	ENST00000304718.4	+	10	1619	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	435					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTTACCAATGAAAATACATC	0.353000													52	102					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582422	180582422	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:180582422G>C	ENST00000328275.1	+	1	480	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTGATCCAGATGGTGGTAG	0.483000													29	125					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	113					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17681173	17681173	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:17681173G>A	ENST00000375448.4	+	11	1327	c.1301G>A	c.(1300-1302)tGt>tAt	p.C434Y	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	434					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGGGACAGCTGTTATCCCAGG	0.582000													4	14					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671434	111671434	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:111671434G>A	ENST00000431670.2	+	11	3058	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E840K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E883K|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E867K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E840K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	883						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TAGAAGTCTGGAAGAAAGGAA	0.373000													8	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104815	168104815	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:168104815G>A	ENST00000409195.1	+	9	7002	c.6913G>A	c.(6913-6915)Gaa>Aaa	p.E2305K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2083K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2305K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2130					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCATCATCTGAAATTGAATT	0.428000													13	66					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710640	103710640	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:103710640C>T	ENST00000245312.3	-	2	1066	c.470G>A	c.(469-471)aGc>aAc	p.S157N		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	157					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATTACGATGCTCCCAGAGTC	0.498000													24	41					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655514	38655514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:38655514G>A	ENST00000413689.1	-	6	848	c.655C>T	c.(655-657)Cga>Tga	p.R219*	SCN5A_ENST00000425664.1_Nonsense_Mutation_p.R219*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.R219*|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000443581.1_Intron	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	219					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGAAAGTTCGAAGAGCCGAC	0.438000													3	16					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888220	47888220	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:47888220G>A	ENST00000396105.1	-	3	375	c.129C>T	c.(127-129)ctC>ctT	p.L43L	ZNFX1_ENST00000371752.1_Silent_p.L43L|ZNFX1_ENST00000371754.4_Silent_p.L43L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	43							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCCTCCTCGGAGAGCATTGG	0.527000													17	46					0	0	1	0	0
ROCK1P1	727758	broad.mit.edu	37	18	116916	116916	+	RNA	SNP	T	T	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr18:116916T>G	ENST00000608049.1	+	0	464					NR_033770.1																						CCTAAAATATTCCAGGTAAAA	0.284000													6	64					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829053	38829053	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:38829053C>T	ENST00000436693.2	-	2	2161	c.2042G>A	c.(2041-2043)gGc>gAc	p.G681D	TLR6_ENST00000381950.1_Missense_Mutation_p.G681D	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	681	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATGCTCTTGCCAGGGACAAA	0.393000													4	121					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903651	5903651	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:5903651G>A	ENST00000378961.4	+	4	1065	c.861G>A	c.(859-861)agG>agA	p.R287R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	287						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACCACGGGAGGAGCAGGCCCG	0.592000													5	13					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283717	159283717	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:159283717G>A	ENST00000332217.5	-	1	732	c.733C>T	c.(733-735)Cac>Tac	p.H245Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	245					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)					ACTGTGAGGTGGGAGGCGCAG	0.522000													12	68					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	783422	783422	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:783422C>T	ENST00000540986.1	-	6	1828	c.393G>A	c.(391-393)ttG>ttA	p.L131L	NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.*189*|NARFL_ENST00000568545.1_Silent_p.L131L|HAGHL_ENST00000569604.1_Intron|NARFL_ENST00000251588.2_Silent_p.L233L			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	233					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TGTCAGGGGTCAAGTGCTACA	0.557000													10	25					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68728482	68728482	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:68728482C>T	ENST00000325631.5	+	4	1385	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	MARVELD2_ENST00000413223.2_Silent_p.I321I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	437					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CTAAACCTATCGTGATGCCCG	0.458000													12	47					0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6498975	6498975	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:6498975G>C	ENST00000254584.2	-	7	926	c.843C>G	c.(841-843)atC>atG	p.I281M	ARFIP2_ENST00000445086.2_Missense_Mutation_p.I196M|ARFIP2_ENST00000396777.3_Missense_Mutation_p.I281M|ARFIP2_ENST00000423813.2_Missense_Mutation_p.I243M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	281	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTGAGCTTGATGGCCACAT	0.592000													13	18					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102465479	102465479	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:102465479C>G	ENST00000260228.2	-	7	975	c.963G>C	c.(961-963)tgG>tgC	p.W321C	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	321	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCTGCCGTCTCCAGAAAATCC	0.413000													4	20					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131220670	131220670	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:131220670C>T	ENST00000337057.3	-	8	1378	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	EPB41L2_ENST00000527411.1_Silent_p.K399K|EPB41L2_ENST00000525193.1_Silent_p.K399K|EPB41L2_ENST00000529208.1_Silent_p.K399K|EPB41L2_ENST00000392427.3_Silent_p.K399K|EPB41L2_ENST00000528282.1_Silent_p.K399K|EPB41L2_ENST00000525271.1_Silent_p.K399K|EPB41L2_ENST00000530481.1_Silent_p.K399K|EPB41L2_ENST00000368128.2_Silent_p.K399K|EPB41L2_ENST00000445890.2_Silent_p.K399K|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527659.1_Silent_p.K399K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	399	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGAAAGCCTCTTTGCATTTT	0.418000													26	41					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456732	5456732	+	Silent	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:5456732G>C	ENST00000222033.4	+	1	1307	c.1230G>C	c.(1228-1230)acG>acC	p.T410T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	410						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCAGCACCACGTCCCTGGAGG	0.652000													3	13					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383123	39383123	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:39383123G>C	ENST00000545653.1	-	9	1405	c.875C>G	c.(874-876)tCt>tGt	p.S292C	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.S313C|DAB2_ENST00000509337.1_Missense_Mutation_p.S292C	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	313					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)			AGATTTGAGAGAATCAAACGA	0.463000													13	105					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58365902	58365902	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:58365902G>A	ENST00000300896.4	-	5	747	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	USP32_ENST00000393003.3_Silent_p.L185L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	185					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L185fs*13(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTCCAGCCAGAGTTTGGTAG	0.343000													20	63					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122780306	122780306	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:122780306G>A	ENST00000264499.4	-	5	552	c.369C>T	c.(367-369)ctC>ctT	p.L123L	BBS7_ENST00000506636.1_Silent_p.L123L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	123					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACTTGCACTGAGAAAGAGGT	0.338000									Bardet-Biedl syndrome				22	43					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003868	57003868	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:57003868G>A	ENST00000606794.1	-	1	807	c.611C>T	c.(610-612)tCg>tTg	p.S204L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	204						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTGGTGGACGAGACCCCAAG	0.587000													7	18					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32768301	32768301	+	Silent	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:32768301C>G	ENST00000373548.3	+	2	213	c.129C>G	c.(127-129)ctC>ctG	p.L43L	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	43	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ATTTGCTGCTCAACTATGGTC	0.458000													27	18					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111471032	111471032	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:111471032C>G	ENST00000265162.5	+	17	2833	c.2491C>G	c.(2491-2493)Ctt>Gtt	p.L831V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	831					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAACGTTACTCTTTTGTCAAG	0.318000													7	26					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214568286	214568286	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:214568286G>C	ENST00000366956.5	-	9	996	c.802C>G	c.(802-804)Cta>Gta	p.L268V	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	268	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.L268L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCCACTAGAATGGTCGAC	0.428000													27	120					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856580	90856580	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:90856580G>A	ENST00000394980.1	+	7	2068	c.1749G>A	c.(1747-1749)atG>atA	p.M583I	MMRN1_ENST00000264790.2_Missense_Mutation_p.M583I|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M325I			Q13201	MMRN1_HUMAN	multimerin 1	583					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTTGGAGATGGAGAAAGAGT	0.343000													8	24					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833364	116833364	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:116833364G>A	ENST00000368599.3	+	1	556	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_5'UTR	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	169						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TACCGTCAATGAAGAACTGAA	0.463000													14	32					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42158201	42158201	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:42158201G>C	ENST00000225983.6	-	21	2983	c.2660C>G	c.(2659-2661)tCt>tGt	p.S887C	HDAC5_ENST00000586802.1_Missense_Mutation_p.S886C|HDAC5_ENST00000393622.2_Missense_Mutation_p.S886C|HDAC5_ENST00000336057.5_Missense_Mutation_p.S801C			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	886	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTAGAGCACAGAGGGGTCATT	0.552000													7	26					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832202	152832202	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:152832202C>T	ENST00000367255.5	-	7	947	c.346G>A	c.(346-348)Gat>Aat	p.D116N	SYNE1_ENST00000265368.4_Missense_Mutation_p.D116N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D116N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D116N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D116N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D123N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D123N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D116N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D123N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	116	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCGGCCATCAGCTATATCG	0.333000										HNSCC(10;0.0054)			23	74					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997250	66997250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:66997250G>A	ENST00000303334.4	+	2	322	c.251G>A	c.(250-252)tGg>tAg	p.W84*	CES3_ENST00000394037.1_Nonsense_Mutation_p.W84*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	84						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCACAGCCCTGGGAGGGTGTG	0.632000													29	68					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600798	29600798	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:29600798C>T	ENST00000431530.3	+	1	2051	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	655	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCCCAGGCCCTGGGCCAGGT	0.572000													6	12					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093494	40093494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr15:40093494G>A	ENST00000299092.3	-	4	1582	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	GPR176_ENST00000543580.1_Nonsense_Mutation_p.Q418*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.Q463*|RP11-37C7.1_ENST00000558616.1_RNA	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	463					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GAGAGCCACTGAGGAGGCAAC	0.567000													14	26					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191377	8191377	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:8191377C>T	ENST00000600128.1	-	20	2943	c.2529G>A	c.(2527-2529)ggG>ggA	p.G843G	FBN3_ENST00000270509.2_Silent_p.G843G|FBN3_ENST00000601739.1_Silent_p.G843G			Q75N90	FBN3_HUMAN	fibrillin 3	843	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCAGGGGCTCCCCCAGGCTG	0.677000													6	8					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49446723	49446723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:49446723C>A	ENST00000301067.7	-	8	1086	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTATGCTGCTCAGCAACGGAG	0.542000													19	73					2.37509e-13	2.58244e-13	1	1	0
MKNK2	2872	broad.mit.edu	37	19	2043153	2043153	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:2043153A>T	ENST00000250896.3	-	7	707	c.463T>A	c.(463-465)Ttc>Atc	p.F155I	MKNK2_ENST00000541165.1_Missense_Mutation_p.F24I|MKNK2_ENST00000591601.1_Missense_Mutation_p.F155I|MKNK2_ENST00000309340.7_Missense_Mutation_p.F155I	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	155	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGTAGAAGCGGTCCTCC	0.632000													15	46					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94033905	94033905	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:94033905G>C	ENST00000297268.6	+	7	788	c.317G>C	c.(316-318)gGa>gCa	p.G106A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	106					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCAGCTGGAGCCCCAGTA	0.418000										HNSCC(75;0.22)			10	37					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228145304	228145304	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:228145304G>A	ENST00000396578.3	+	30	2534	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	791	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATGGACCACGAGGTACAATA	0.473000													14	58					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112647450	112647450	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:112647450G>A	ENST00000393104.2	+	7	910	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E195K	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	195	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAATCTTGGTGAAATGAAAAG	0.323000													28	43					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415636	1415636	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:1415636C>T	ENST00000446702.2	+	16	2601	c.1974C>T	c.(1972-1974)taC>taT	p.Y658Y	CNTN6_ENST00000539053.1_Silent_p.Y586Y|CNTN6_ENST00000350110.2_Silent_p.Y658Y			Q9UQ52	CNTN6_HUMAN	contactin 6	658	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTAAGACATACAATGCAACAG	0.383000													13	82					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908972	23908972	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:23908972T>A	ENST00000382298.3	-	10	9631	c.9043A>T	c.(9043-9045)Atc>Ttc	p.I3015F	SACS_ENST00000382292.3_Missense_Mutation_p.I3015F|SACS_ENST00000402364.1_Missense_Mutation_p.I2265F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3015					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACATATTGATCCAAGTAATT	0.348000													32	57					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636853	1636853	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:1636853G>A	ENST00000409644.1	+	7	4522	c.4522G>A	c.(4522-4524)Gag>Aag	p.E1508K	WDR81_ENST00000437219.2_Missense_Mutation_p.E305K|WDR81_ENST00000446363.1_Missense_Mutation_p.E147K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.E281K|WDR81_ENST00000309182.5_Missense_Mutation_p.E457K|WDR81_ENST00000545662.1_Missense_Mutation_p.E139K	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	281										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCAACCACGAGCTGGTTGG	0.632000													29	68					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38511626	38511626	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr22:38511626C>T	ENST00000332509.3	-	14	2125	c.1942G>A	c.(1942-1944)Ggg>Agg	p.G648R	PLA2G6_ENST00000402064.1_Missense_Mutation_p.G594R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G594R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	648					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGGAAGCGCCCATTGGGTCGG	0.652000													3	11					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58756066	58756066	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:58756066C>T	ENST00000245206.5	-	3	491	c.363G>A	c.(361-363)ttG>ttA	p.L121L	GOT2_ENST00000434819.2_Intron|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	121					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCCACTCTTCAAGACTTCGC	0.483000													26	55					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768137	148768137	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:148768137C>G	ENST00000316286.9	-	3	1741	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	ZNF786_ENST00000491431.1_Missense_Mutation_p.R576T|ZNF786_ENST00000451334.3_Missense_Mutation_p.R539T			Q8N393	ZN786_HUMAN	zinc finger protein 786	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTGGATTGTCTGGTGAAGCC	0.637000													4	14					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145364	34145364	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34145364G>A	ENST00000257829.3	+	10	1176	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.E252K	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	324						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TACTCTGTTTGAATTTGTATT	0.358000													41	103					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44590245	44590245	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:44590245C>T	ENST00000576629.1	+	2	662	c.167C>T	c.(166-168)cCg>cTg	p.P56L	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.P56L			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	56						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCCCTGGGGCCGCCTGACTCC	0.607000													10	138					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594897	48594897	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:48594897G>A	ENST00000262384.3	-	2	1893	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	553					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GGCTTAGAATGAGGAGAACTA	0.443000													58	80					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14852317	14852317	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:14852317G>A	ENST00000282096.4	+	8	2234	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	PDE3B_ENST00000455098.2_Silent_p.K576K	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	627					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAACAGAGAAGAAAGACAGCA	0.308000													4	26					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16930500	16930500	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:16930500C>T	ENST00000377833.4	-	56	8886	c.8821G>A	c.(8821-8823)Gac>Aac	p.D2941N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2941	CUB 22.				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)	ATGTTGTTGTCATATTGTTTT	0.378000													74	53					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71179740	71179740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:71179740G>T	ENST00000491238.1	-	1	248	c.95C>A	c.(94-96)tCg>tAg	p.S32*	FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron	NM_001244815.1	NP_001231744.1	Q9H334	FOXP1_HUMAN	forkhead box P1	378					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTTTCTGCGAAGCGGGGGT	0.483000			T	PAX5	ALL								10	39					3.86212e-05	3.97827e-05	1	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34107638	34107638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34107638C>T	ENST00000341394.4	+	10	1183	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.Q332*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.Q332*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.Q251*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.Q332*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	332					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGCAACCTCAGGCTGCATC	0.493000													7	27					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1042091	1042091	+	Silent	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:1042091C>A	ENST00000360803.4	+	4	451	c.369C>A	c.(367-369)ctC>ctA	p.L123L	GTPBP4_ENST00000538293.1_Silent_p.L7L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L76L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	123					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GCGACTCTCTCTACCGCTGCA	0.428000													5	27					1.23904e-05	1.28597e-05	1	1	0
NUP210	23225	broad.mit.edu	37	3	13367425	13367425	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:13367425G>A	ENST00000254508.5	-	33	4596	c.4514C>T	c.(4513-4515)tCa>tTa	p.S1505L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1505					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGGTTCCTGAGAGGCCTGG	0.617000													5	62					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50057699	50057699	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:50057699C>T	ENST00000281631.5	+	6	548	c.390C>T	c.(388-390)gaC>gaT	p.D130D	PARP8_ENST00000503750.2_Silent_p.D130D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Silent_p.D130D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.D130D|PARP8_ENST00000505554.1_Silent_p.D109D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	130						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTGAAGGTGACAATGATTCCG	0.338000													10	65					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25655810	25655810	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:25655810C>G	ENST00000376436.1	-	4	2653	c.2114G>C	c.(2113-2115)aGa>aCa	p.R705T	ZNF337_ENST00000252979.5_Missense_Mutation_p.R705T|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673T|RP4-694B14.5_ENST00000414393.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTGTATTCTTTCATGCAC	0.453000													75	91					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78729748	78729748	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:78729748A>C	ENST00000286627.5	-	19	3122	c.2170T>G	c.(2170-2172)Tcg>Gcg	p.S724A	KCNMA1_ENST00000372440.1_Missense_Mutation_p.S724A|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S786A|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S724A|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S782A|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S782A|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S785A|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S724A	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	765					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGCTTAGGCGAGGTGTTGGGT	0.552000													15	188					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88201871	88201871	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:88201871G>A	ENST00000357081.3	-	22	3052	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R930C|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R982C|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	970					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAAGAACAGCGATGACTACAT	0.363000													7	54					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74062016	74062016	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr14:74062016G>A	ENST00000326303.4	+	3	1178	c.924G>A	c.(922-924)atG>atA	p.M308I		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	308					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACCCCAGCATGATTCCAATAG	0.502000													4	38					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963878	39963878	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:39963878A>G	ENST00000599117.1	+	25	2661	c.2294A>G	c.(2293-2295)tAt>tGt	p.Y765C	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Y765C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Y761C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Y761C|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Y765C			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	765	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTCGACCTATGGGAGGACG	0.647000													10	20					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998671	173998671	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:173998671G>A	ENST00000457714.1	+	7	2479	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	NLGN1_ENST00000401917.3_Missense_Mutation_p.A724T|NLGN1_ENST00000545397.1_Missense_Mutation_p.A684T|NLGN1_ENST00000361589.4_Missense_Mutation_p.A684T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	701					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCAGTTGGAGCATCACTGCT	0.483000													22	46					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323565	29323565	+	Silent	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:29323565C>G	ENST00000377154.1	-	4	707	c.408G>C	c.(406-408)ctG>ctC	p.L136L	OR5V1_ENST00000543825.1_Silent_p.L136L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	136			L -> P (found in a renal cell carcinoma sample; somatic mutation).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAACCTTGCTCAGAATAACTG	0.438000													8	32					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237028996	237028996	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:237028996G>A	ENST00000304032.8	+	17	2855	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	AGAP1_ENST00000409538.1_Missense_Mutation_p.E971K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E598K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E706K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCCGGGACGAGGTGAACGA	0.716000													5	38					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893778	16893778	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:16893778G>C	ENST00000430580.2	-	25	3622	c.2735C>G	c.(2734-2736)tCa>tGa	p.S912*	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	912	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAAGGAGTTGAATAACATCT	0.483000													30	3294					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44496871	44496871	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:44496871G>A	ENST00000425708.2	-	2	512	c.171C>T	c.(169-171)ctC>ctT	p.L57L	ZNF445_ENST00000396077.2_Silent_p.L57L			P59923	ZN445_HUMAN	zinc finger protein 445	57	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCTGTCTGAAGAGCTGGCGGA	0.577000													12	87					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775004	127775004	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:127775004C>A	ENST00000483725.3	-	2	459	c.123G>T	c.(121-123)aaG>aaT	p.K41N	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	41							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTCTATTTTCTTCTGCATAA	0.348000													13	28					1.61879e-10	1.73941e-10	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	167					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139990	34139990	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34139990G>A	ENST00000257829.3	+	8	926	c.720G>A	c.(718-720)gaG>gaA	p.E240E	NAT10_ENST00000527971.1_Silent_p.E240E|NAT10_ENST00000531159.2_Silent_p.E168E	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	240						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGTTGAAGGAGAGCTTGCAGG	0.527000													5	19					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34101183	34101183	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34101183C>G	ENST00000341394.4	+	7	886	c.697C>G	c.(697-699)Cta>Gta	p.L233V	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.L233V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.L233V|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.L152V|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.L233V	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	233					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGATAAAGTTCTAAAGGAAAT	0.383000													16	47					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372417	55372417	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:55372417C>A	ENST00000297316.4	+	2	1311	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	369	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCTGCACTTCGTGTGCAAGC	0.662000													4	18					1.23904e-05	1.28597e-05	1	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389603	150389603	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:150389603G>A	ENST00000223293.5	+	3	323	c.229G>A	c.(229-231)Gac>Aac	p.D77N		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	77						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCATTATTGACACACCAGA	0.483000													7	35					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145009405	145009405	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:145009405C>G	ENST00000322810.4	-	7	1259	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E254Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E231Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E227Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E254Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E213Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E227Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E195Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E205Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	364	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGTCCCGCTCCGCCACAGAG	0.657000													4	32					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967149	23967149	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:23967149C>T	ENST00000335694.4	-	2	304	c.100G>A	c.(100-102)Gac>Aac	p.D34N	GGTLC1_ENST00000278765.4_Missense_Mutation_p.D34N|GGTLC1_ENST00000286890.4_Missense_Mutation_p.D34N	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	34							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTGCCCCCGTCATCCGGCATG	0.627000													9	26					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160252903	160252903	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:160252903C>G	ENST00000264431.4	+	9	1633	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	405	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTGGAGGCTCTGAGAAGGGA	0.433000													27	72					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109529176	109529176	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:109529176C>A	ENST00000357672.3	-	9	2185	c.1810G>T	c.(1810-1812)Gta>Tta	p.V604L	WDR47_ENST00000400794.3_Missense_Mutation_p.V640L|WDR47_ENST00000361054.3_Missense_Mutation_p.V604L|WDR47_ENST00000369965.4_Missense_Mutation_p.V633L|WDR47_ENST00000369962.3_Missense_Mutation_p.V632L			O94967	WDR47_HUMAN	WD repeat domain 47	632										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TAGGCACATACTCTCAGAGTT	0.373000													8	37					1.12685e-05	1.17846e-05	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158540924	158540924	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:158540924G>A	ENST00000251527.5	-	15	1751	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	590	C2 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGAATGAAGAAAGTGAAGT	0.328000													34	68					0	0	1	0	0
GEMIN6	79833	broad.mit.edu	37	2	39008788	39008788	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:39008788C>T	ENST00000281950.3	+	3	374	c.258C>T	c.(256-258)ttC>ttT	p.F86F	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				TGCATTTGTTCACGTCTGGAG	0.478000													5	25					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19473515	19473515	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:19473515G>C	ENST00000538714.1	+	15	2043	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R541T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R553T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R725T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R380T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R622T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R622T|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.R622T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R680T	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	665							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATGAAGGTAGAGGCACATTA	0.284000													32	117					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144837963	144837963	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:144837963C>T	ENST00000367545.3	+	38	5420	c.5420C>T	c.(5419-5421)gCc>gTc	p.A1807V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1807					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)		GAGGAGAGTGCCCAGATTGAG	0.323000													10	22					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600867	29600867	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:29600867C>T	ENST00000431530.3	+	1	2120	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	678	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TACCATGCCTCTTCCCCACGA	0.582000													6	17					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685175	117685175	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:117685175G>A	ENST00000317775.6	-	18	3486	c.2801C>T	c.(2800-2802)aCc>aTc	p.T934I	NOS1_ENST00000338101.4_Missense_Mutation_p.T968I|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	934	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGGCCCAGGTCCTGAAAGC	0.537000													6	34					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34153065	34153065	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34153065G>A	ENST00000257829.3	+	14	1713	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.E431K	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	503						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCCCTTGCCTGAAGCTTGTGA	0.527000													27	38					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247763	177247763	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:177247763C>T	ENST00000361539.4	+	7	1389	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	359																	CAGCTATCTCCCAGTTCTGGG	0.577000													42	187					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907244	16907244	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:16907244G>A	ENST00000430580.2	-	16	2474	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	529	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGCTACCTGGGAGAATGTTTA	0.423000													41	1408					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42909706	42909706	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:42909706C>G	ENST00000244289.4	-	8	2649	c.2373G>C	c.(2371-2373)aaG>aaC	p.K791N	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	791					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGTCCTCCGTCTTTGCACCTG	0.592000													7	20					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589740	58589740	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:58589740T>C	ENST00000317147.5	-	20	2884	c.2552A>G	c.(2551-2553)tAt>tGt	p.Y851C	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.Y846C|CNOT1_ENST00000441024.2_Missense_Mutation_p.Y851C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	851					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCGCTGGAAATAGCTGTTTGC	0.413000													39	43					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86254639	86254639	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:86254639G>A	ENST00000263857.6	-	34	5448	c.5070C>T	c.(5068-5070)caC>caT	p.H1690H	POLR1A_ENST00000409681.1_Silent_p.H1629H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1690					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCAGCTCATCGTGGGATCCTG	0.547000													4	23					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007997	11007997	+	Missense_Mutation	SNP	C	C	T	rs112668844	byFrequency	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:11007997C>T	ENST00000377004.4	-	12	2194	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	C1orf127_ENST00000377008.4_Missense_Mutation_p.R565Q	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	583										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTCCAGGTATCGGGCCTGGTC	0.637000													6	19					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31583100	31583100	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr22:31583100C>T	ENST00000326132.6	+	2	179	c.20C>T	c.(19-21)tCg>tTg	p.S7L	RNF185_ENST00000426256.2_5'UTR|RNF185_ENST00000266252.7_Missense_Mutation_p.S7L	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185							integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						AAGGGGCCCTCGGCCTCTGCA	0.587000													15	121					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218674653	218674653	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:218674653G>A	ENST00000171887.4	-	30	5306	c.4854C>T	c.(4852-4854)atC>atT	p.I1618I	TNS1_ENST00000430930.1_Silent_p.I1597I|TNS1_ENST00000419504.1_Silent_p.I1604I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1618						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)		TGGCTTTAGAGATGGCCTGTG	0.562000													6	16					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183706417	183706417	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:183706417G>C	ENST00000334444.6	-	4	626	c.386C>G	c.(385-387)tCa>tGa	p.S129*	ABCC5_ENST00000392579.2_Nonsense_Mutation_p.S129*|ABCC5_ENST00000427120.2_Nonsense_Mutation_p.S129*|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.S129*|ABCC5_ENST00000382494.2_Nonsense_Mutation_p.S129*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	129						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTTCCATTGAGAGCTCCCC	0.567000													7	24					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703862	30703862	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:30703862C>T	ENST00000256246.2	-	1	2746	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	891										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)		ACATCTGCTTCCATCATCTAT	0.313000													16	46					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526473	16526473	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:16526473C>T	ENST00000311331.7	-	6	1818	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	576				R -> C (in Ref. 2; BAD18548).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAATACGCTGATGTAT	0.383000													17	67					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17617277	17617277	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr20:17617277C>T	ENST00000377813.1	-	6	2585	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	RRBP1_ENST00000246043.4_Missense_Mutation_p.R761H|RRBP1_ENST00000455029.2_Missense_Mutation_p.R102H|RRBP1_ENST00000377807.2_Missense_Mutation_p.R328H|RRBP1_ENST00000360807.4_Missense_Mutation_p.R328H			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	761					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCCTGCATGCGTGCCTGCAC	0.647000													12	38					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99327762	99327762	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:99327762C>T	ENST00000370664.3	+	2	498	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	54										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GGGATGAGTTCTGGGACACAG	0.627000													4	58					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976380	14976380	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr12:14976380G>A	ENST00000330828.2	+	2	715	c.511G>A	c.(511-513)Gag>Aag	p.E171K	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	171										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CACCACATCTGAGAGAACCAG	0.393000													10	36					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343332	12343332	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:12343332C>T	ENST00000358136.3	+	21	5303	c.5173C>T	c.(5173-5175)Ctc>Ttc	p.L1725F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1725F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1725					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCTCGGTCTCTCCCTTCCCA	0.483000													8	48					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328193	48328193	+	Missense_Mutation	SNP	G	G	T	rs61749290		TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:48328193G>T	ENST00000319988.1	+	1	419	c.419G>T	c.(418-420)gGc>gTc	p.G140V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CGGAAGTGTGGCCTGCTAGCG	0.577000													9	36					1.12685e-05	1.17846e-05	1	1	0
HACL1	26061	broad.mit.edu	37	3	15642627	15642627	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:15642627G>C	ENST00000321169.5	-	2	523	c.156C>G	c.(154-156)atC>atG	p.I52M	HACL1_ENST00000457447.2_Missense_Mutation_p.I52M|HACL1_ENST00000451445.2_Missense_Mutation_p.I52M|HACL1_ENST00000435217.2_Missense_Mutation_p.I52M|HACL1_ENST00000456194.2_Missense_Mutation_p.I52M	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	52					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CGATGTACTTGATGCCTAGCT	0.502000													5	37					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171093	51171093	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:51171093C>T	ENST00000440970.1	-	3	4045	c.3614G>A	c.(3613-3615)aGc>aAc	p.S1205N	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.S125N|SALL1_ENST00000251020.4_Missense_Mutation_p.S1302N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1302					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTTCTCACTGCTTGCCATTTT	0.567000													8	44					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25016769	25016769	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:25016769G>A	ENST00000381989.3	-	29	3607	c.3502C>T	c.(3502-3504)Ctc>Ttc	p.L1168F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1168					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTGTTATGAGAGAGTTTTCT	0.269000													7	63					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226606	158226606	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:158226606C>G	ENST00000289429.5	+	4	1168	c.635C>G	c.(634-636)cCc>cGc	p.P212R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	212	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.P212H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCCCATGGCCCCAGTCCTGGC	0.532000													12	62					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13946208	13946208	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:13946208C>A	ENST00000343495.5	-	11	1641	c.903G>T	c.(901-903)gaG>gaT	p.E301D	ETV1_ENST00000430479.1_Missense_Mutation_p.E319D|ETV1_ENST00000405218.2_Missense_Mutation_p.E319D|ETV1_ENST00000420159.2_Missense_Mutation_p.E261D|ETV1_ENST00000399357.3_Missense_Mutation_p.E216D|ETV1_ENST00000242066.5_Missense_Mutation_p.E301D|ETV1_ENST00000403527.1_Missense_Mutation_p.E279D|ETV1_ENST00000403685.1_Missense_Mutation_p.E301D|ETV1_ENST00000405358.4_Missense_Mutation_p.E333D|ETV1_ENST00000405192.2_Missense_Mutation_p.E296D			P50549	ETV1_HUMAN	ets variant 1	319					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTCCTGGCTCTTGTTTGA	0.358000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								4	15					0.150653	0.151205	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129743893	129743893	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:129743893G>A	ENST00000446488.3	-	21	2400	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NFRKB_ENST00000524794.1_Missense_Mutation_p.S791L|NFRKB_ENST00000304521.5_Missense_Mutation_p.S766L|NFRKB_ENST00000524746.1_Missense_Mutation_p.S766L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	766	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CATTGTTGGTGAAGACACCAG	0.483000													7	8					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44496868	44496868	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr3:44496868G>A	ENST00000425708.2	-	2	515	c.174C>T	c.(172-174)ttC>ttT	p.F58F	ZNF445_ENST00000396077.2_Silent_p.F58F			P59923	ZN445_HUMAN	zinc finger protein 445	58	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAAGCTGTCTGAAGAGCTGGC	0.582000													12	88					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323965	29323965	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:29323965C>G	ENST00000377154.1	-	4	307	c.8G>C	c.(7-9)aGa>aCa	p.R3T	OR5V1_ENST00000543825.1_Missense_Mutation_p.R3T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R3I(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGATTCTTTCTTTCCATGAT	0.348000													17	36					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131602849	131602849	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:131602849G>A	ENST00000431975.2	+	8	1128	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	AKAP7_ENST00000342266.4_Missense_Mutation_p.E77K|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.E80K|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.E322K|AKAP7_ENST00000474850.2_Missense_Mutation_p.E100K	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	100					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CAATGACAATGAGAACAACAG	0.542000													4	15					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34856977	34856977	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:34856977C>T	ENST00000431794.3	-	22	2701	c.2179G>A	c.(2179-2181)Gac>Aac	p.D727N	MYO19_ENST00000268852.9_Missense_Mutation_p.D527N	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	727						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCAGCCGAGTCACCAGTTATG	0.562000													13	70					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29099793	29099793	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr18:29099793C>A	ENST00000261590.8	+	3	318	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	DSG2_ENST00000585206.1_Missense_Mutation_p.L37M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	37					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGAAAATAAGCTGCTTCCTAA	0.408000													11	57					9.31168e-06	9.81308e-06	1	1	0
ZNF219	51222	broad.mit.edu	37	14	21559617	21559617	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr14:21559617G>C	ENST00000360947.3	-	4	1928	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.S506C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S506C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	506					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S506C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGAGCGGAAAGATTTTCCGCA	0.612000													18	42					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55083737	55083737	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:55083737A>G	ENST00000505374.1	+	15	1173	c.1081A>G	c.(1081-1083)Aaa>Gaa	p.K361E	DDX4_ENST00000353507.5_Missense_Mutation_p.K327E|DDX4_ENST00000514278.2_Missense_Mutation_p.K341E|DDX4_ENST00000354991.5_Missense_Mutation_p.K327E|DDX4_ENST00000511853.1_Missense_Mutation_p.K212E	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	361	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGTCGTTTTAAAGAGTTGCA	0.378000													13	95					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27517276	27517276	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:27517276C>G	ENST00000356183.4	-	10	1729	c.1714G>C	c.(1714-1716)Gac>Cac	p.D572H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D572H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	572						transcription factor TFIIIC complex	DNA binding|protein binding	p.D572N(1)		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						CTGTTGCTGTCCGCACAGTGG	0.562000													19	68					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79570917	79570917	+	Silent	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:79570917G>A	ENST00000372391.2	-	23	4403	c.4398C>T	c.(4396-4398)gtC>gtT	p.V1466V	DLG5_ENST00000372388.2_Silent_p.V1126V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1466					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTGGGTCGATGACAGATGGAT	0.647000													12	142					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97369971	97369971	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:97369971C>T	ENST00000371224.2	-	17	2326	c.2189G>A	c.(2188-2190)gGt>gAt	p.G730D	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G728D	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	730	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AAAGCGGTAACCATCAGAAAA	0.498000													11	23					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	148					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216643	26216643	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:26216643C>T	ENST00000244601.3	-	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGGAAGCCTCGCCTGCGATG	0.572000													24	77					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135165840	135165840	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:135165840G>C	ENST00000368554.4	+	8	851	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	PRAP1_ENST00000433452.2_Missense_Mutation_p.E118Q|PRAP1_ENST00000458230.1_Missense_Mutation_p.E109Q|PRAP1_ENST00000423766.1_Missense_Mutation_p.E119Q|PRAP1_ENST00000463201.1_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCCTCCGCCTGAGGAGGACCA	0.642000													3	65					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23457184	23457184	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:23457184C>T	ENST00000307149.5	-	2	453	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	90					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCCTCCTTGACAAGAATCATC	0.428000													8	36					0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618726	89618726	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:89618726C>G	ENST00000323061.5	-	1	660	c.180G>C	c.(178-180)gaG>gaC	p.E60D	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	60					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TTGGGGCATTCTCTGCAGGGG	0.592000													18	64					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3107050	3107050	+	Silent	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:3107050C>T	ENST00000336577.4	+	5	915	c.678C>T	c.(676-678)gaC>gaT	p.D226D	RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	226					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AGGGGACCGACCTGTTTGCCG	0.672000													11	47					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76344528	76344528	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr6:76344528G>T	ENST00000370014.3	+	5	1077		c.e5+1		SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGCCCAAAGGTAAGAATTCT	0.343000													7	22					5.68852e-11	6.13644e-11	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90035039	90035039	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:90035039C>T	ENST00000317005.2	+	1	1072	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	305	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATGTTGAGTTCAGATGATGGC	0.403000													8	35					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554674	62554674	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:62554674C>T	ENST00000294168.3	+	11	1976	c.1775C>T	c.(1774-1776)tCg>tTg	p.S592L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	592					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCCGGCCTCGCGCTACGTG	0.687000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91930099	91930099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr9:91930099C>T	ENST00000314355.6	+	2	169	c.74C>T	c.(73-75)cCc>cTc	p.P25L		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	25					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						GTTATGTTACCCAGAGAACTT	0.428000													19	66					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608082	121608082	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:121608082G>A	ENST00000393386.2	+	3	613	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E68K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	68	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATATTGATGAAGATCTTAC	0.328000													14	102					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288886	77288886	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr4:77288886G>T	ENST00000388914.3	-	11	1543	c.1391C>A	c.(1390-1392)tCc>tAc	p.S464Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	464										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAAGGAGGATACTTTTTC	0.413000													6	44					8.12818e-05	8.34128e-05	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15648778	15648778	+	Silent	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:15648778C>G	ENST00000269703.3	+	7	844	c.645C>G	c.(643-645)gtC>gtG	p.V215V	CYP4F22_ENST00000601005.2_Silent_p.V215V	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGAAATGTGTCTTCAGCTACA	0.527000													17	26					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626911	108626911	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:108626911G>C	ENST00000264047.2	+	9	1613	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	SLC5A7_ENST00000409059.1_Missense_Mutation_p.R446T|SLC5A7_ENST00000540517.1_Missense_Mutation_p.R341T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	446					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCTTCCTGAGAATAACTGGA	0.438000													13	55					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31350027	31350027	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:31350027G>T	ENST00000336798.7	-	1	1560	c.68C>A	c.(67-69)tCc>tAc	p.S23Y	SDC3_ENST00000339394.6_Intron|SDC3_ENST00000471567.1_Intron			O75056	SDC3_HUMAN	syndecan 3	355						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGTGGGGGAGAGGGAGAG	0.607000													6	6					5.9392e-07	6.30752e-07	1	1	0
TLL2	7093	broad.mit.edu	37	10	98127973	98127973	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr10:98127973C>G	ENST00000357947.3	-	21	3145	c.2920G>C	c.(2920-2922)Gaa>Caa	p.E974Q		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	974	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TAGATTTCTTCTAATGGCTGA	0.463000													8	27					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38244507	38244507	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr17:38244507G>C	ENST00000450525.2	+	8	1227	c.736G>C	c.(736-738)Gac>Cac	p.D246H	THRA_ENST00000394121.4_Missense_Mutation_p.D246H|THRA_ENST00000546243.1_Missense_Mutation_p.D246H|THRA_ENST00000264637.4_Missense_Mutation_p.D246H|THRA_ENST00000584985.1_Missense_Mutation_p.D246H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	246	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GCCTTGCGAAGACCAGATCAT	0.642000													11	23					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34104565	34104565	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:34104565G>C	ENST00000341394.4	+	9	1132	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E315Q|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E315Q|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E234Q|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E315Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	315					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGGTAGATGAGTGGACAGT	0.363000													21	47					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42808409	42808409	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:42808409G>A	ENST00000514985.1	-	2	303	c.47C>T	c.(46-48)tCg>tTg	p.S16L	SEPP1_ENST00000511224.1_Missense_Mutation_p.S16L|SEPP1_ENST00000507920.1_Missense_Mutation_p.S16L|SEPP1_ENST00000506577.1_Missense_Mutation_p.S16L|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	16					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGTTCCTCCCGATGGGAGGAG	0.502000													6	41					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145667764	145667764	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr8:145667764C>T	ENST00000409379.3	-	6	639	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	204					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TTGTAGCGGGCGCGGAATAGG	0.652000													4	40					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30339160	30339160	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr21:30339160C>G	ENST00000389194.2	-	10	1796	c.1791G>C	c.(1789-1791)gaG>gaC	p.E597D	LTN1_ENST00000389195.2_Missense_Mutation_p.E597D|LTN1_ENST00000361371.5_Missense_Mutation_p.E551D	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	551							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTTTTCATTCTCTTTATTGC	0.368000													9	45					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347513	140347513	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:140347513A>T	ENST00000289269.5	+	1	1694	c.1162A>T	c.(1162-1164)Agt>Tgt	p.S388C	PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		388	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGTTCTCAGTGTCAATGA	0.547000													11	44					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030114	226030114	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:226030114G>C	ENST00000366837.4	+	7	1175	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.E327Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	327					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATATTCTAGAGAAGTTTTC	0.587000													19	10					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													9	7	---	---	---	---					
GPR75-ASB3	100302652	broad.mit.edu	37	2	53992637	53992638	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:53992637_53992638insT	ENST00000263634.3	-	2	206_207	c.72_73insA	c.(70-75)aaagtcfs	p.V25fs	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Frame_Shift_Ins_p.V60fs|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Frame_Shift_Ins_p.V63fs	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		60					intracellular signal transduction												TTCCTTAAGACTTTAACATTGC	0.450													44	77	---	---	---	---					
UGT1A3	54659	broad.mit.edu	37	2	234638033	234638034	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr2:234638033_234638034insGA	ENST00000482026.1	+	1	280_281	c.261_262insGA	c.(262-264)gaafs	p.E88fs	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Frame_Shift_Ins_p.E88fs|UGT1A5_ENST00000373414.3_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGACCCAGGATGAATTTGATCG	0.446													26	95	---	---	---	---					
NUP155	9631	broad.mit.edu	37	5	37293010	37293010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:37293010delC	ENST00000231498.3	-	34	4211	c.4008delG	c.(4006-4008)gagfs	p.E1336fs	NUP155_ENST00000381843.2_Frame_Shift_Del_p.E1277fs|NUP155_ENST00000513532.1_Frame_Shift_Del_p.E1272fs|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1336					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCTGGGATTCTCAACATATC	0.303													22	426	---	---	---	---					
CTC-340D7.1	0	broad.mit.edu	37	5	68150971	68150971	+	RNA	DEL	A	A	-			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr5:68150971delA	ENST00000503268.1	-	0	377																		p.0?(1)									TGCTATGAGCAAAAGTTCTTC	0.408													12	21	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													2	4	---	---	---	---					
B3GAT3	26229	broad.mit.edu	37	11	62387986	62387986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr11:62387986delA	ENST00000531383.1	-	2	446	c.240delT	c.(238-240)gttfs	p.V80fs	B3GAT3_ENST00000534026.1_Frame_Shift_Del_p.V80fs|B3GAT3_ENST00000265471.5_Frame_Shift_Del_p.V80fs			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	80					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGTGGGGGTAACAACATAGA	0.592													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48941715	48941716	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr13:48941715_48941716insT	ENST00000267163.4	+	10	1163_1164	c.1025_1026insT	c.(1024-1029)actcttfs	p.L343fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	343					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.D340fs*5(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGATAAAACTCTTCAGACTG	0.272		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			20	59	---	---	---	---					
FBXL19	54620	broad.mit.edu	37	16	30939203	30939204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr16:30939203_30939204insC	ENST00000338343.4	+	5	933_934	c.546_547insC	c.(547-549)cccfs	p.P183fs	FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.P183fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.P203fs			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	203							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGCCTGCCGGGCCCCCCCCGGA	0.708													2	4	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					2	4	---	---	---	---					
CEP89	84902	broad.mit.edu	37	19	33370160	33370163	+	Frame_Shift_Del	DEL	CAAC	CAAC	-	rs745959	byFrequency	TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chr19:33370160_33370163delCAAC	ENST00000305768.5	-	19	2345_2348	c.2257_2260delGTTG	c.(2257-2262)gttgccfs	p.VA753fs		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGCTGGGGGCAACCAGAGCTCTG	0.564													26	55	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-XF-A9SG-01A-12D-A42E-08	TCGA-XF-A9SG-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb0d44a6-7aff-4f39-8e91-dbd8e3db6500	fce13c94-2989-4fa7-bd09-07887ded84f4	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													4	5	---	---	---	---					
