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
MYO1F	4542	broad.mit.edu	37	19	8610597	8610597	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:8610597G>A	ENST00000338257.8	-	13	1560	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	431	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAGTCCAGCGGATGCCTTCCT	0.572000													114	64					0	0	0.003610	0	0
ATP7A	538	broad.mit.edu	37	X	77244063	77244063	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:77244063A>G	ENST00000341514.6	+	3	601	c.446A>G	c.(445-447)gAt>gGt	p.D149G	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D149G	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	149					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTCAGTTTAGATACTGGGACA	0.418000													59	156					0	0	0.003610	0	0
APLNR	187	broad.mit.edu	37	11	57003368	57003368	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:57003368G>A	ENST00000606794.1	-	1	1307	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	371						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						TGGCTGTAGGGGATGGATTTC	0.622000													28	22					0	0	0.007291	0	0
KIF5C	3800	broad.mit.edu	37	2	149853801	149853801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:149853801C>T	ENST00000435030.1	+	18	2415	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Nonsense_Mutation_p.Q451*|KIF5C_ENST00000414838.2_Nonsense_Mutation_p.Q588*			O60282	KIF5C_HUMAN	kinesin family member 5C	683					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGTCAGCTTCCAGGATAAGGA	0.413000													12	12					0	0	0.002450	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909447	156909447	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156909447G>A	ENST00000368194.3	-	37	5028	c.3989C>T	c.(3988-3990)cCa>cTa	p.P1330L	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1290L|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P706L|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1290					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGGTCCTTGGGGGTAGGTG	0.567000													204	38					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220346119	220346119	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:220346119C>T	ENST00000312358.7	+	27	5595	c.5463C>T	c.(5461-5463)ttC>ttT	p.F1821F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1821	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACCACATTCCTGAGCCTGA	0.582000													12	37					0	0	0.001855	0	0
BRD3	8019	broad.mit.edu	37	9	136899829	136899829	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:136899829G>A	ENST00000303407.7	-	11	2244	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	687	Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTACCTTTCCGGGCGGGCTTC	0.612000			T	C15orf55	lethal midline carcinoma of young people								17	16					0	0	0.004007	0	0
INPP5J	27124	broad.mit.edu	37	22	31521951	31521951	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:31521951C>T	ENST00000331075.5	+	2	1275	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	INPP5J_ENST00000412277.2_Missense_Mutation_p.S342F|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000405300.1_Missense_Mutation_p.S42F|INPP5J_ENST00000400294.2_Missense_Mutation_p.S42F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	409						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTGTCATCCTCCCCTTGGTCA	0.632000													14	24					0	0	0.004990	0	0
PGR	5241	broad.mit.edu	37	11	100909930	100909930	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:100909930C>T	ENST00000325455.5	-	8	4172	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	PGR_ENST00000534013.1_Missense_Mutation_p.E313K|PGR_ENST00000263463.5_Missense_Mutation_p.E805K	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	907	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GACATCATTTCTGGAAATTCA	0.378000													29	6					0	0	0.006320	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414271	79414271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79414271G>T	ENST00000307745.7	+	15	3373	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*																								AGGGGCCAGGGAGGCCACCCA	0.716000													7	10					0.00198382	0.00306554	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179395891	179395891	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:179395891C>T	ENST00000589042.1	-	358	105675	c.105451G>A	c.(105451-105453)Gac>Aac	p.D35151N	TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26211N|TTN_ENST00000460472.2_Missense_Mutation_p.D26086N|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33510N|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32583N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26278N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33510							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)			CCATCGGTGTCACAAGAAAAC	0.507000													52	144					0	0	0.003610	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826301	34826301	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:34826301C>T	ENST00000192788.5	+	14	2339	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P723L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	723										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCCTTCCCCCTGTCCATT	0.542000													15	67					0	0	0.004007	0	0
ULK1	8408	broad.mit.edu	37	12	132402023	132402023	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:132402023C>T	ENST00000321867.4	+	22	2601	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	750					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCCCTTCCCCGGTGGTCT	0.697000													3	6					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179457349	179457349	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:179457349C>T	ENST00000589042.1	-	301	59607	c.59383G>A	c.(59383-59385)Gaa>Aaa	p.E19795K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10855K|TTN_ENST00000460472.2_Missense_Mutation_p.E10730K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18154K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17227K|TTN_ENST00000342175.6_Missense_Mutation_p.E10922K|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18154	Fibronectin type-III 43.						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)			ATGTGTTGTTCTCTTGCCATG	0.383000													21	71					0	0	0.001882	0	0
UNC45A	55898	broad.mit.edu	37	15	91486170	91486170	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:91486170C>T	ENST00000394275.2	+	11	1675	c.840C>T	c.(838-840)atC>atT	p.I280I	UNC45A_ENST00000418476.2_Silent_p.I295I|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	295					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTCCTCATCAGTAACCTCT	0.567000													144	293					0	0	0.003610	0	0
IL11RA	3590	broad.mit.edu	37	9	34656778	34656778	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:34656778C>T	ENST00000555003.1	+	4	1560	c.204C>T	c.(202-204)ctC>ctT	p.L68L	IL11RA_ENST00000318041.9_Silent_p.L68L|IL11RA_ENST00000378817.4_Silent_p.L68L|IL11RA_ENST00000478802.2_3'UTR|GALT_ENST00000556278.1_Silent_p.L212L|IL11RA_ENST00000602473.1_Silent_p.L68L|IL11RA_ENST00000441545.2_Silent_p.L68L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	68	Ig-like C2-type.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CAAAGCTGCTCCAGGGACCTG	0.567000													18	14					0	0	0.008871	0	0
COCH	1690	broad.mit.edu	37	14	31354821	31354821	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:31354821G>A	ENST00000460581.2	+	8	1165	c.619G>A	c.(619-621)Gac>Aac	p.D207N	COCH_ENST00000475087.1_Missense_Mutation_p.D319N|COCH_ENST00000396618.3_Missense_Mutation_p.D319N|COCH_ENST00000382493.4_Missense_Mutation_p.D170N|COCH_ENST00000216361.4_Missense_Mutation_p.D319N|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	319	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CACATTTGTTGACAAGGTAAA	0.438000													15	8					0	0	0.003163	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740649	75740649	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:75740649G>A	ENST00000370855.5	-	6	367	c.254C>T	c.(253-255)cCc>cTc	p.P85L	SLC44A5_ENST00000535611.1_Intron|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P85L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	85						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCACTCATTGGGAGTGCCCTT	0.478000													31	12					0	0	0.003755	0	0
APOBEC1	339	broad.mit.edu	37	12	7805422	7805422	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:7805422G>A	ENST00000229304.4	-	3	74	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	18					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCCAGGGTTCGATTCTTCTCC	0.448000													34	38					0	0	0.004878	0	0
OTOR	56914	broad.mit.edu	37	20	16729116	16729116	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:16729116G>A	ENST00000246081.2	+	1	114	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	24					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AATATTTATGGACCGTCTAGC	0.363000													136	81					0	0	0.003610	0	0
ARAF	369	broad.mit.edu	37	X	47428156	47428156	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:47428156C>T	ENST00000377045.4	+	11	1310	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	372	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTATGGGCTTCATGACCCGGC	0.562000											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	17					0	0	0.003163	0	0
MED14	9282	broad.mit.edu	37	X	40534569	40534569	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:40534569T>C	ENST00000324817.1	-	22	3043	c.2925A>G	c.(2923-2925)agA>agG	p.R975R	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	975					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACAGACCTTCTTCGAGCAT	0.388000													26	30					0	0	0.004656	0	0
TACR2	6865	broad.mit.edu	37	10	71164626	71164626	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:71164626C>T	ENST00000373306.4	-	5	1696	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R	TACR2_ENST00000373307.1_Missense_Mutation_p.G173R	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	385					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	aaaccatacccaaaccatagc	0.557000													6	8					0	0	0.001168	0	0
XIAP	331	broad.mit.edu	37	X	123022525	123022525	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:123022525C>T	ENST00000371199.3	+	3	1233	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S	XIAP_ENST00000355640.3_Missense_Mutation_p.P312S|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.P312S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	312					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TGATTGGAAGCCCAGTGAAGA	0.418000									X-linked Lymphoproliferative syndrome				46	72					0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24366209	24366209	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:24366209C>T	ENST00000005284.3	+	3	1553	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	117					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F117F(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGCTGTTCTTCGGCGGGCTCT	0.617000													17	27					0	0	0.004007	0	0
GABRG3	2567	broad.mit.edu	37	15	27572084	27572084	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:27572084C>T	ENST00000333743.6	+	4	653	c.399C>T	c.(397-399)ttC>ttT	p.F133F	GABRG3_ENST00000555083.1_Silent_p.F133F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	133					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACACCATCTTCCGCAATTCTA	0.468000													50	27					0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347188	89347188	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:89347188G>A	ENST00000301030.4	-	9	6222	c.5762C>T	c.(5761-5763)gCc>gTc	p.A1921V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1921V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1921	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GATGATGGCGGCCGTCGCCTG	0.697000													28	19					0	0	0.007291	0	0
CNST	163882	broad.mit.edu	37	1	246797225	246797225	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:246797225G>A	ENST00000366513.4	+	5	885		c.e5-1		CNST_ENST00000483271.1_Splice_Site|CNST_ENST00000366512.3_Splice_Site	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein						positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTTCTATTCAGATGAGAAAGC	0.348000													29	96					0	0	0.008361	0	0
LTBP3	4054	broad.mit.edu	37	11	65310921	65310921	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65310921G>A	ENST00000301873.5	-	17	2721	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	LTBP3_ENST00000532932.1_Missense_Mutation_p.S248F|LTBP3_ENST00000322147.4_Missense_Mutation_p.S818F|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.S444F	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	818	Cys-rich.|EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCGGTCCCTGGACAGATGGTA	0.617000													28	20					0	0	0.005443	0	0
TRRAP	8295	broad.mit.edu	37	7	98535353	98535353	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:98535353G>A	ENST00000359863.4	+	30	4523	c.4314G>A	c.(4312-4314)cgG>cgA	p.R1438R	TRRAP_ENST00000446306.3_Silent_p.R1437R|TRRAP_ENST00000355540.3_Silent_p.R1438R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1438					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGATTACCGGAGCTTGACGC	0.413000													25	28					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9057803	9057803	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9057803C>T	ENST00000397910.4	-	3	29846	c.29643G>A	c.(29641-29643)gaG>gaA	p.E9881E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9883	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGCTAGTCTCCCTGAATC	0.473000													25	47					0	0	0.004656	0	0
ZNF517	340385	broad.mit.edu	37	8	146033000	146033000	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:146033000C>T	ENST00000359971.3	+	5	806	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.F233F|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGAAGCCGTTCCAGTGCGGCG	0.682000													7	1					0	0	0.001984	0	0
SCTR	6344	broad.mit.edu	37	2	120236412	120236412	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:120236412G>A	ENST00000019103.5	-	3	543	c.276C>T	c.(274-276)ttC>ttT	p.F92F	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	92					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GCATCCGGAGGAATCTCGGGC	0.617000													29	12					0	0	0.008361	0	0
NFE2	4778	broad.mit.edu	37	12	54686206	54686206	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:54686206C>T	ENST00000540264.2	-	2	1583	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	NFE2_ENST00000553070.1_Silent_p.G358G|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.G358G|NFE2_ENST00000312156.4_Silent_p.G358G			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	358					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGAAGATGGTCCCATCGGCAG	0.567000													10	32					0	0	0.006214	0	0
CBLL1	79872	broad.mit.edu	37	7	107399243	107399243	+	Missense_Mutation	SNP	C	C	T	rs150861689		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:107399243C>T	ENST00000440859.2	+	6	1563	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	CBLL1_ENST00000222597.2_Missense_Mutation_p.H365Y	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	366	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H366Y(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGTACTCCTCACTTGGTATA	0.522000													108	120					0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660490	77660490	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:77660490G>A	ENST00000296043.6	+	5	2117	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	388					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCCAGCTCGGAGTGACAGTT	0.617000													35	2					0	0	0.003271	0	0
MYH13	8735	broad.mit.edu	37	17	10215912	10215912	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:10215912C>T	ENST00000418404.3	-	30	4507	c.4344G>A	c.(4342-4344)aaG>aaA	p.K1448K	MYH13_ENST00000570743.1_Silent_p.K1448K|MYH13_ENST00000252172.4_Silent_p.K1448K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1448					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGCTTCTTGTCCAGTG	0.522000													17	14					0	0	0.007413	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958509	50958509	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:50958509G>A	ENST00000357701.5	+	19	2210	c.2159G>A	c.(2158-2160)gGg>gAg	p.G720E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	720	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AATGCTATAGGGGTCTCCCAG	0.478000													67	46					0	0	0.003610	0	0
WRN	7486	broad.mit.edu	37	8	31014939	31014939	+	Missense_Mutation	SNP	C	C	T	rs142614369	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:31014939C>T	ENST00000298139.5	+	33	4124	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1292					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATGCACTTATCCCAAGCGGTG	0.498000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				23	16					0	0	0.002780	0	0
GDF5	8200	broad.mit.edu	37	20	34025689	34025689	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:34025689A>T	ENST00000374372.1	-	3	523	c.20T>A	c.(19-21)cTc>cAc	p.L7H	GDF5_ENST00000374369.3_Missense_Mutation_p.L7H			P43026	GDF5_HUMAN	growth differentiation factor 5	7					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAAGAAAGTGAGGAGTTTGGG	0.567000													14	20					0	0	0.002450	0	0
LRRN2	10446	broad.mit.edu	37	1	204587774	204587774	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000367176.3_Silent_p.A449A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCC	0.642000													20	37					0	0	0.001882	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914841	54914841	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:54914841C>T	ENST00000474759.1	+	21	1911	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CACNA2D3_ENST00000415676.2_Silent_p.S621S|CACNA2D3_ENST00000490478.1_Silent_p.S527S|CACNA2D3_ENST00000288197.5_Silent_p.S621S|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	621						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGCGCTTTCCAGAGGTCATG	0.453000													109	154					0	0	0.003610	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609495	108609495	+	Silent	SNP	A	A	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:108609495A>G	ENST00000264047.2	+	4	636	c.360A>G	c.(358-360)caA>caG	p.Q120Q	SLC5A7_ENST00000409059.1_Silent_p.Q120Q|SLC5A7_ENST00000540517.1_Silent_p.Q15Q	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	120					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)	CGTTTCAGCAAATCTATGGAA	0.443000													24	49					0	0	0.003330	0	0
RHEB	6009	broad.mit.edu	37	7	151216560	151216560	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:151216560C>T	ENST00000262187.5	-	1	450	c.38G>A	c.(37-39)gGc>gAc	p.G13D	RHEB_ENST00000496004.1_Intron	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	13					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AGACCGGTAGCCCAGGATCGC	0.736000													8	6					0	0	0.006214	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675288	31675288	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:31675288C>T	ENST00000503322.1	+	2	109	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	LY6G6F_ENST00000375832.4_Missense_Mutation_p.P36S|LY6G6F_ENST00000556581.1_Missense_Mutation_p.P36S|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							GCTGCCATGTCCCTCACCACC	0.572000													183	252					0	0	0.003610	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267376	43267376	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:43267376G>T	ENST00000372585.5	+	4	610	c.515G>T	c.(514-516)cGg>cTg	p.R172L	SLC22A7_ENST00000372589.3_Missense_Mutation_p.R170L|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R170L|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	172						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TTTGGGCGGCGGCGTCTGCTG	0.577000													83	109					8.34767e-46	1.32186e-45	0.003610	1	0
HECTD3	79654	broad.mit.edu	37	1	45470324	45470324	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:45470324G>A	ENST00000372172.4	-	16	2161	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	HECTD3_ENST00000372168.3_Missense_Mutation_p.S307F|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	697	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GATGAAACGAGAACGGTCCCC	0.562000													39	29					0	0	0.008740	0	0
OR4K5	79317	broad.mit.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:20388956G>A	ENST00000315915.4	+	1	216	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433000													48	103					0	0	0.003610	0	0
PACS1	55690	broad.mit.edu	37	11	66002846	66002846	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:66002846G>A	ENST00000320580.4	+	18	2212	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	PACS1_ENST00000529757.1_Missense_Mutation_p.E263K	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	727					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCCCGTGGCCGAAGCCATGCT	0.517000													26	15					0	0	0.001786	0	0
EPHB2	2048	broad.mit.edu	37	1	23234598	23234598	+	Silent	SNP	G	G	A	rs147014777	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:23234598G>A	ENST00000400191.3	+	12	2307	c.2289G>A	c.(2287-2289)tcG>tcA	p.S763S	EPHB2_ENST00000374627.1_Silent_p.S758S|EPHB2_ENST00000374630.3_Silent_p.S763S|EPHB2_ENST00000374632.3_Silent_p.S764S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	763	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAAGGTGTCGGACTTTGGGC	0.572000													47	20					0	0	0.003610	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318934	67318934	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:67318934C>A	ENST00000360461.5	+	12	4546	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P671T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P671T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P590T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	671					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCCCACCCTCCCCTGAGGAA	0.632000													24	9					4.26978e-12	6.67859e-12	0.003330	1	0
PERP	64065	broad.mit.edu	37	6	138413187	138413187	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:138413187A>C	ENST00000421351.3	-	3	744	c.574T>G	c.(574-576)Tct>Gct	p.S192A		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	192					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		AGTTAGGCAGATGTGTAGAAG	0.488000													19	0					0	0	0.007413	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444247	5444247	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5444247C>T	ENST00000300778.4	+	1	907	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTCTCCACTGGTCCATGT	0.488000													23	40					0	0	0.005443	0	0
SOGA2	23255	broad.mit.edu	37	18	8784535	8784535	+	Silent	SNP	C	C	T	rs114537770	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:8784535C>T	ENST00000359865.3	+	6	1567	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SOGA2_ENST00000400050.3_Silent_p.T475T|SOGA2_ENST00000517570.1_Silent_p.T475T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Silent_p.T835T	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	826																	TCACGGACACCGACAGCTTCC	0.677000													69	55					0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421210	55421210	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:55421210C>T	ENST00000242994.3	+	2	1365	c.987C>T	c.(985-987)ttC>ttT	p.F329F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	329					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATACAGTCTTCACTGAGTGAG	0.428000													79	178					0	0	0.003610	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987922	154987922	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:154987922C>T	ENST00000368426.3	+	3	923	c.786C>T	c.(784-786)tcC>tcT	p.S262S	ZBTB7B_ENST00000417934.2_Silent_p.S296S|ZBTB7B_ENST00000292176.2_Silent_p.S262S|ZBTB7B_ENST00000535420.1_Silent_p.S262S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	262					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAACTGCCTCCCCTCCTGAGG	0.652000													29	60					0	0	0.008361	0	0
BCAT1	586	broad.mit.edu	37	12	24970974	24970974	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:24970974C>G	ENST00000261192.7	-	11	1655	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q	BCAT1_ENST00000539282.1_Missense_Mutation_p.E389Q|BCAT1_ENST00000539780.1_Missense_Mutation_p.E340Q|BCAT1_ENST00000538118.1_Missense_Mutation_p.E376Q|BCAT1_ENST00000342945.5_Missense_Mutation_p.E316Q	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	377					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCGCTCTCTTCTCTTCCATAC	0.408000													40	23					0	0	0.002222	0	0
PLCB3	5331	broad.mit.edu	37	11	64021914	64021914	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:64021914C>T	ENST00000540288.1	+	2	230	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	PLCB3_ENST00000279230.6_Silent_p.L43L|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	43					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCTGGTGACCCTGCGTGTGGA	0.667000													33	116					0	0	0.005524	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019236	147019236	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:147019236C>T	ENST00000265272.5	-	10	1956	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E497K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E455K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	497						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTCTGCTCCTGTAGGAGG	0.458000													6	266					0	0	0.001168	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255556	140255556	+	Missense_Mutation	SNP	C	C	T	rs17844352		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140255556C>T	ENST00000398631.2	+	1	499	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAACTCTCTTTTGACCTA	0.378000													18	52					0	0	0.007413	0	0
TUBB6	84617	broad.mit.edu	37	18	12325478	12325478	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:12325478C>T	ENST00000317702.5	+	4	924	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	230					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTGGTGTCCGCCACCATGA	0.632000													33	29					0	0	0.004289	0	0
RPRD2	23248	broad.mit.edu	37	1	150443078	150443078	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:150443078C>T	ENST00000401000.4	+	10	1641	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P552S|RPRD2_ENST00000539519.1_Missense_Mutation_p.P526S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	552	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAACCCAGTTCCAGCCAGTGA	0.478000													30	124					0	0	0.001786	0	0
GRIP2	80852	broad.mit.edu	37	3	14538038	14538038	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:14538038C>T	ENST00000273083.3	-	0	2774							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCGAGGGCCACCCTCTGCACG	0.622000													10	8					0	0	0.008291	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	G	A	rs141686243		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:66963846G>A	ENST00000276570.5	+	3	351	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000													34	19					0	0	0.002445	0	0
TEX33	339669	broad.mit.edu	37	22	37398024	37398024	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:37398024G>A	ENST00000405091.2	-	4	594	c.343C>T	c.(343-345)Cca>Tca	p.P115S	TEX33_ENST00000381821.1_Missense_Mutation_p.P115S|TEX33_ENST00000402860.3_Missense_Mutation_p.P30S			O43247	EAN57_HUMAN	testis expressed 33	115																	CCCTGGCATGGCTGAGCCCCC	0.622000													14	19					0	0	0.001855	0	0
KIAA0368	23392	broad.mit.edu	37	9	114173416	114173416	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:114173416C>T	ENST00000259335.4	-	23	2754	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	KIAA0368_ENST00000338205.5_Missense_Mutation_p.E741K	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGCTGTATCTCCGGGCTCTGA	0.428000													45	109					0	0	0.003610	0	0
CHD7	55636	broad.mit.edu	37	8	61741297	61741297	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:61741297G>A	ENST00000423902.2	+	14	3933	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1152	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCATTTCTTGGAACCAAGTCG	0.433000													14	6					0	0	0.002450	0	0
KCNH8	131096	broad.mit.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:19554559C>T	ENST00000328405.2	+	13	2443	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	726						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gaggCAGTCTCCCTCTCTCCC	0.532000													17	19					0	0	0.004990	0	0
NAF1	92345	broad.mit.edu	37	4	164087677	164087677	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:164087677T>G	ENST00000274054.2	-	1	396	c.203A>C	c.(202-204)cAg>cCg	p.Q68P	NAF1_ENST00000422287.2_Missense_Mutation_p.Q68P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	68					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAGAACGGGCTGCAGAGGCTG	0.726000													8	0					0	0	0.008291	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449774	42449774	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:42449774C>T	ENST00000262407.5	-	30	3109	c.3078G>A	c.(3076-3078)cgG>cgA	p.R1026R	ITGA2B_ENST00000353281.4_Silent_p.R992R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	1026			R -> Q (in GT).		axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTGGCCGGTTCCGCTTGAAGA	0.577000													14	17					0	0	0.002450	0	0
CDH23	64072	broad.mit.edu	37	10	73574959	73574959	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:73574959A>C	ENST00000224721.6	+	69	10009	c.10004A>C	c.(10003-10005)gAa>gCa	p.E3335A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1090A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3330					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCGCACAGAATCCGCCAAA	0.632000													8	4					0	0	0.003080	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600535	98600535	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:98600535G>A	ENST00000326840.6	-	2	644	c.282C>T	c.(280-282)ccC>ccT	p.P94P	DCBLD2_ENST00000326857.9_Silent_p.P94P|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	94	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGTGCTGTTGGGATAGGTCT	0.423000													77	125					0	0	0.003610	0	0
GPR133	283383	broad.mit.edu	37	12	131593342	131593342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:131593342G>A	ENST00000261654.5	+	18	2520	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E	GPR133_ENST00000376682.4_Missense_Mutation_p.G340E|GPR133_ENST00000535015.1_Missense_Mutation_p.G686E|GPR133_ENST00000543617.1_Missense_Mutation_p.G173E	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	654					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTGGTGGAGGGGCTGCACCTC	0.567000													32	63					0	0	0.002836	0	0
TCEB3	6924	broad.mit.edu	37	1	24078020	24078020	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:24078020C>T	ENST00000418390.2	+	4	1274	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	335					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGGCAGCAGCCTGAAGAAGAA	0.527000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	30					0	0	0.002450	0	0
WDR90	197335	broad.mit.edu	37	16	717536	717536	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:717536C>T	ENST00000549091.1	+	41	5292	c.5200C>T	c.(5200-5202)Ctc>Ttc	p.L1734F	WDR90_ENST00000293879.4_Missense_Mutation_p.L1732F|WDR90_ENST00000315764.4_Missense_Mutation_p.L283F|WDR90_ENST00000547944.1_Missense_Mutation_p.L331F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1732										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCCAGGCTGCTCTTCACGGC	0.637000													30	9					0	0	0.001786	0	0
ZNF213	7760	broad.mit.edu	37	16	3190750	3190750	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:3190750C>G	ENST00000396878.3	+	6	1257	c.782C>G	c.(781-783)cCa>cGa	p.P261R	ZNF213_ENST00000416391.2_Missense_Mutation_p.P103R|ZNF213_ENST00000576416.1_Missense_Mutation_p.P261R|ZNF213_ENST00000574902.1_Missense_Mutation_p.P261R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	261	KRAB.				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						CCGGTGGTGCCAGGCCAGACA	0.667000													28	22					0	0	0.002445	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347602	65347602	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65347602C>T	ENST00000309295.4	+	5	628	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	121										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGACCTGGCCCGCCATGCAG	0.657000													22	8					0	0	0.001523	0	0
EMR3	84658	broad.mit.edu	37	19	14740969	14740969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14740969C>T	ENST00000253673.5	-	14	1794	c.1694G>A	c.(1693-1695)tGg>tAg	p.W565*	EMR3_ENST00000344373.4_Nonsense_Mutation_p.W513*|EMR3_ENST00000599900.1_Nonsense_Mutation_p.W350*|EMR3_ENST00000443157.2_Nonsense_Mutation_p.W439*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	565					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GCCCAGACACCATGTGCAGCC	0.507000													16	28					0	0	0.001523	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033308	41033308	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:41033308C>T	ENST00000380620.3	+	5	1414	c.822C>T	c.(820-822)tcC>tcT	p.S274S	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.S274S|B3GALT5_ENST00000398714.2_Silent_p.S274S|B3GALT5_ENST00000343118.4_Silent_p.S274S			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	274					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TACGCTTCTCCGTATGCCTCT	0.562000													16	45					0	0	0.007413	0	0
ZNF713	349075	broad.mit.edu	37	7	56007168	56007168	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:56007168C>T	ENST00000429591.2	+	4	800	c.762C>T	c.(760-762)ttC>ttT	p.F254F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAAGGCCTTCAGCCACACCT	0.423000													37	44					0	0	0.006230	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:247978344C>T	ENST00000357627.1	-	1	687	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000													21	31					0	0	0.002780	0	0
ARMC4	55130	broad.mit.edu	37	10	28229688	28229688	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:28229688G>A	ENST00000305242.5	-	13	1882	c.1790C>T	c.(1789-1791)tCg>tTg	p.S597L	ARMC4_ENST00000545014.1_Missense_Mutation_p.S122L|ARMC4_ENST00000537576.1_Missense_Mutation_p.S289L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	597							binding	p.S597L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATACAGACTCGATTGGGCAGG	0.443000													21	24					0	0	0.008871	0	0
SEC16A	9919	broad.mit.edu	37	9	139370859	139370859	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:139370859G>A	ENST00000313050.7	-	1	1282	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SEC16A_ENST00000371706.3_Silent_p.F225F|SEC16A_ENST00000290037.6_Silent_p.F225F|SEC16A_ENST00000431893.2_Silent_p.F225F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	225					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTGGAGCAGAAATCGTCAA	0.587000													5	15					0	0	0.000602	0	0
TMEM2	23670	broad.mit.edu	37	9	74355074	74355074	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:74355074T>C	ENST00000377044.4	-	5	1648	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	TMEM2_ENST00000377066.5_Missense_Mutation_p.N370S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	370						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTGCTATGATTTTCATAGTT	0.438000													19	22					0	0	0.008871	0	0
ABCB8	11194	broad.mit.edu	37	7	150737981	150737981	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:150737981C>T	ENST00000358849.4	+	12	1548	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Silent_p.I502I|ABCB8_ENST00000542328.1_Silent_p.I397I|ABCB8_ENST00000498578.1_Silent_p.I485I	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	502	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAGATCGTGGCCCTCG	0.657000													4	4					0	0	0.001168	0	0
OR6C2	341416	broad.mit.edu	37	12	55846759	55846759	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:55846759C>T	ENST00000322678.1	+	1	762	c.762C>T	c.(760-762)atC>atT	p.I254I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423000													48	29					0	0	0.003610	0	0
TRIM17	51127	broad.mit.edu	37	1	228596250	228596250	+	Silent	SNP	G	G	A	rs1749955		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:228596250G>A	ENST00000366697.2	-	6	2042	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	TRIM17_ENST00000366698.2_Silent_p.D362D|TRIM17_ENST00000295033.3_Silent_p.D362D|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	362	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCACAACGCGTCCCCGGTGA	0.632000													12	59					0	0	0.000978	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702538	27702538	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:27702538G>A	ENST00000438700.3	-	1	759	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	214					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCTGTAGGAGACCACCAGAA	0.617000													20	17					0	0	0.007413	0	0
TTC24	164118	broad.mit.edu	37	1	156555590	156555590	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156555590G>A	ENST00000368236.3	+	9	1578	c.1542G>A	c.(1540-1542)ggG>ggA	p.G514G	TTC24_ENST00000368237.3_Silent_p.G514G|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	514							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGCAGAGGGACAGTCCTCG	0.517000													61	298					0	0	0.003610	0	0
NUGGC	389643	broad.mit.edu	37	8	27880921	27880921	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:27880921C>T	ENST00000413272.2	-	19	2446	c.2304G>A	c.(2302-2304)gcG>gcA	p.A768A	NUGGC_ENST00000341513.6_Silent_p.A768A	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GTGCATTCTCCGCGACCTCCC	0.572000													22	15					0	0	0.003954	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826300	34826300	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:34826300C>T	ENST00000192788.5	+	14	2338	c.2167C>T	c.(2167-2169)Ccc>Tcc	p.P723S	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P723S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	723										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGCCCCCTTCCCCCTGTCCAT	0.542000													13	65					0	0	0.002450	0	0
ZNF257	113835	broad.mit.edu	37	19	22271732	22271732	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:22271732C>T	ENST00000594947.1	+	4	1324	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363000													5	8					0	0	0.001168	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:43381975C>T	ENST00000296088.7	+	5	1232	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.R310*|SNRK_ENST00000437827.1_Nonsense_Mutation_p.R104*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R310*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000													18	30					0	0	0.004990	0	0
CYLC1	1538	broad.mit.edu	37	X	83129299	83129299	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:83129299C>T	ENST00000329312.4	+	4	1620	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	528					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATGAATCTTCCAAGACAGGC	0.353000													9	12					0	0	0.004482	0	0
DYRK4	8798	broad.mit.edu	37	12	4721873	4721873	+	Missense_Mutation	SNP	C	C	T	rs141423818	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:4721873C>T	ENST00000540757.2	+	12	1470	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	DYRK4_ENST00000543431.1_Missense_Mutation_p.S437L|DYRK4_ENST00000545342.1_Missense_Mutation_p.S74L|DYRK4_ENST00000010132.5_Missense_Mutation_p.S437L	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	437						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468000													45	41					0	0	0.003610	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165878	6165878	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:6165878G>A	ENST00000588304.1	+	7	886	c.438_splice	c.e7-1	p.W147_splice	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Splice_Site_p.W10_splice|ACSBG2_ENST00000252669.5_Splice_Site_p.W197_splice|ACSBG2_ENST00000591403.1_Splice_Site_p.W197_splice|ACSBG2_ENST00000586696.1_Splice_Site_p.W197_splice			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	197					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCCACAGTGGGATGATTTC	0.517000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0	0	0.006214	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954813	10954813	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:10954813G>A	ENST00000240687.2	-	1	413	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	119					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TCATCCAGAGGAAAAGTGGGT	0.418000													10	18					0	0	0.006214	0	0
CSPG5	10675	broad.mit.edu	37	3	47604201	47604201	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:47604201C>T	ENST00000383738.2	-	5	3688	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	CSPG5_ENST00000456150.1_Silent_p.L365L|CSPG5_ENST00000264723.4_Silent_p.L503L	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	530					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCTCTTTCAGGCAGGACT	0.502000													67	83					0	0	0.003610	0	0
KIF14	9928	broad.mit.edu	37	1	200572356	200572356	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:200572356T>C	ENST00000367350.4	-	10	2415	c.1977A>G	c.(1975-1977)acA>acG	p.T659T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	659					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATACTTGCCATGTAAGAACAG	0.323000													24	32					0	0	0.002780	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233889	2233889	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:2233889A>G	ENST00000589097.1	-	7	1513	c.400T>C	c.(400-402)Ttc>Ctc	p.F134L	PLEKHJ1_ENST00000588545.1_Missense_Mutation_p.F115L|PLEKHJ1_ENST00000587962.1_Silent_p.S164S|PLEKHJ1_ENST00000586608.1_Missense_Mutation_p.F135L|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.F134L|PLEKHJ1_ENST00000587394.1_Intron			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	134							protein binding			endometrium(1)|kidney(1)	2				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)		GATATGCCGAACTGTTCCAGG	0.701000													17	9					0	0	0.004007	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219366544	219366544	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:219366544G>T	ENST00000366928.5	+	3	359	c.312G>T	c.(310-312)ttG>ttT	p.L104F	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.L88F|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	104						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTACTGATTTGATTGATGAAG	0.338000													50	21					1.22102e-19	1.91767e-19	0.003610	1	0
KIAA1109	84162	broad.mit.edu	37	4	123160754	123160754	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:123160754C>T	ENST00000264501.4	+	29	4290	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1306L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1306L			Q2LD37	K1109_HUMAN	KIAA1109	1306					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTAGATCTCCCTTGAAACGA	0.448000													57	5					0	0	0.003610	0	0
FAM214B	80256	broad.mit.edu	37	9	35105312	35105312	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:35105312G>A	ENST00000378561.1	-	8	4578	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	FAM214B_ENST00000603301.1_Missense_Mutation_p.S508F|FAM214B_ENST00000378557.1_Missense_Mutation_p.S508F|FAM214B_ENST00000488109.2_Missense_Mutation_p.S508F|FAM214B_ENST00000605244.1_Missense_Mutation_p.S508F|FAM214B_ENST00000322813.5_Missense_Mutation_p.S508F|FAM214B_ENST00000378566.1_Missense_Mutation_p.S203F|FAM214B_ENST00000378554.2_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	508						nucleus											GCTCCGGCGGGAAAAAAGCAG	0.582000													14	14					0	0	0.002450	0	0
VN1R4	317703	broad.mit.edu	37	19	53770138	53770138	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53770138T>C	ENST00000311170.4	-	1	834	c.781A>G	c.(781-783)Aat>Gat	p.N261D		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	261					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTATTGGGATTATCCAAAAGA	0.458000										HNSCC(26;0.072)			14	14					0	0	0.002450	0	0
OR13C9	286362	broad.mit.edu	37	9	107380042	107380042	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:107380042G>A	ENST00000259362.1	-	1	443	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTGCAAACCAGGACCCAACAG	0.448000													17	21					0	0	0.007413	0	0
SLC30A9	10463	broad.mit.edu	37	4	41992694	41992694	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:41992694C>T	ENST00000264451.6	+	1	206	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	9					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCGCCGCCGCGGCCCACAGA	0.697000													26	2					0	0	0.003271	0	0
OR2G3	81469	broad.mit.edu	37	1	247769226	247769226	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:247769226C>T	ENST00000320002.2	+	1	371	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGAATGTATCCTCTTGGCTG	0.488000													172	97					0	0	0.003610	0	0
MCF2L2	23101	broad.mit.edu	37	3	182933875	182933875	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:182933875G>A	ENST00000328913.3	-	22	2675	c.2378C>T	c.(2377-2379)cCa>cTa	p.P793L	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P793L	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	793	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTTCTCTTTGGCCCATCCTG	0.443000													29	47					0	0	0.008361	0	0
MPO	4353	broad.mit.edu	37	17	56348214	56348214	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:56348214C>G	ENST00000340482.3	-	11	2313	c.2137G>C	c.(2137-2139)Gag>Cag	p.E713Q	MPO_ENST00000225275.3_Missense_Mutation_p.E681Q			P05164	PERM_HUMAN	myeloperoxidase	681					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCTCGTTCTCCCACCAAAAC	0.572000													48	35					0	0	0.003610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226364	50226364	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:50226364C>T	ENST00000284509.6	-	15	1444	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D435N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	435					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTGAGAAATCCACAGGCTCT	0.353000													16	19					0	0	0.004007	0	0
LOC647323	647323	broad.mit.edu	37	3	193711897	193711897	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:193711897C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TCCATTTGTTCCATATTTGGG	0.373000													11	11					0	0	0.001855	0	0
OR4C3	256144	broad.mit.edu	37	11	48347413	48347413	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:48347413G>A	ENST00000319856.4	+	1	942	c.921G>A	c.(919-921)ttG>ttA	p.L307L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTATGTTGAATCCACTCA	0.343000													5	71					0	0	0.001168	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865830	47865830	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:47865830C>T	ENST00000396105.1	-	14	3977	c.3731G>A	c.(3730-3732)aGc>aAc	p.S1244N	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1244N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1244							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)			AATGATCTTGCTCCACAGGGG	0.527000													20	72					0	0	0.008871	0	0
CEACAM1	634	broad.mit.edu	37	19	43025623	43025623	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:43025623C>T	ENST00000161559.6	-	4	888	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.G252R|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G252R|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G252R|CEACAM1_ENST00000352591.5_Missense_Mutation_p.G252R|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G212R|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G252R	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	252	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTTTGCCCCTGGACGGTAA	0.532000													24	23					0	0	0.004656	0	0
FUK	197258	broad.mit.edu	37	16	70497570	70497570	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:70497570C>T	ENST00000288078.6	+	3	359	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.L43L|FUK_ENST00000428974.2_Silent_p.L43L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	43						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGCTGGGACGCTGTTACTGGC	0.657000													21	57					0	0	0.008871	0	0
TRIM23	373	broad.mit.edu	37	5	64914040	64914040	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:64914040C>T	ENST00000231524.9	-	2	495	c.124G>A	c.(124-126)Gga>Aga	p.G42R	TRIM23_ENST00000274327.7_Missense_Mutation_p.G42R|TRIM23_ENST00000381018.3_Missense_Mutation_p.G42R	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	42					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACTTTGTCTCCTTGCAAAGAA	0.408000													48	15					0	0	0.003610	0	0
PDE11A	50940	broad.mit.edu	37	2	178704997	178704997	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:178704997T>A	ENST00000286063.5	-	6	1798	c.1481A>T	c.(1480-1482)gAt>gTt	p.D494V	PDE11A_ENST00000449286.2_Missense_Mutation_p.D136V|PDE11A_ENST00000409504.1_Missense_Mutation_p.D136V|PDE11A_ENST00000389683.3_Missense_Mutation_p.D50V|PDE11A_ENST00000358450.4_Missense_Mutation_p.D244V|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	494	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AAAGCGCGGATCCTGGTAGGC	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				23	17					0	0	0.002299	0	0
DHX37	57647	broad.mit.edu	37	12	125457055	125457055	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:125457055G>A	ENST00000308736.2	-	7	1169	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	DHX37_ENST00000544745.1_Silent_p.I144I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	357	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CAACCTTCTGGATTTCTTTAA	0.552000													39	42					0	0	0.002852	0	0
YPEL2	388403	broad.mit.edu	37	17	57430801	57430801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:57430801C>T	ENST00000312655.4	+	2	349	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q11*|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	11						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GAAGACTTTCCAGGCATATCT	0.547000													55	46					0	0	0.003610	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138719360	138719360	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:138719360G>A	ENST00000389532.4	-	8	1180	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CAMSAP1_ENST00000409386.3_Silent_p.F383F|CAMSAP1_ENST00000312405.6_Silent_p.F94F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	372						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597000													10	17					0	0	0.006214	0	0
PZP	5858	broad.mit.edu	37	12	9345254	9345254	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:9345254G>A	ENST00000261336.2	-	12	1364	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	PZP_ENST00000381997.2_Missense_Mutation_p.R315C	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAGAAAACACGATTTGCAGTG	0.488000													49	46					0	0	0.003610	0	0
ZNF285	26974	broad.mit.edu	37	19	44891168	44891168	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:44891168G>A	ENST00000330997.4	-	4	1303	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S	ZNF285_ENST00000544719.2_Silent_p.S413S|ZNF285_ENST00000591679.1_Silent_p.S420S|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CTTGAAGAACGGAGCTTGAAC	0.493000													16	25					0	0	0.008871	0	0
VWA5A	4013	broad.mit.edu	37	11	124016071	124016071	+	Splice_Site	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:124016071G>T	ENST00000456829.2	+	18	2532		c.e18+1		VWA5A_ENST00000360334.4_Splice_Site|VWA5A_ENST00000392748.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A											autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCCATGCAGGTAGGAGCACA	0.577000													15	37					6.31663e-08	9.8401e-08	0.003163	1	0
HECW2	57520	broad.mit.edu	37	2	197184050	197184050	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:197184050C>T	ENST00000260983.2	-	9	1746	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	HECW2_ENST00000409111.1_Missense_Mutation_p.E166K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	522					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAGCAGCTTCGTGTGTGGAG	0.537000													10	43					0	0	0.006214	0	0
ACTG1	71	broad.mit.edu	37	17	79478221	79478221	+	Silent	SNP	G	G	A	rs146493032		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79478221G>A	ENST00000575842.1	-	3	1221	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ACTG1_ENST00000575087.1_Silent_p.S265S|ACTG1_ENST00000331925.2_Silent_p.S265S|ACTG1_ENST00000573283.1_Silent_p.S265S			P63261	ACTG_HUMAN	actin, gamma 1	265					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TACCCAGGAAGGAAGGCTGGA	0.557000													72	65					0	0	0.003610	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:55541105C>T	ENST00000361760.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000													20	53					0	0	0.001523	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202466469	202466469	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:202466469G>A	ENST00000439140.1	-	4	553	c.509C>T	c.(508-510)tCt>tTt	p.S170F	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S170F|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.S170F|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S170F	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	170										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TACCTGTACAGAAAAATACTT	0.299000													9	14					0	0	0.006214	0	0
EXOSC10	5394	broad.mit.edu	37	1	11129707	11129707	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:11129707G>A	ENST00000376936.4	-	22	2446	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Silent_p.L774L|RP4-635E18.7_ENST00000452378.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	799					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGAAATTTTGAGTCGTTTCT	0.468000													147	412					0	0	0.003610	0	0
CALML5	51806	broad.mit.edu	37	10	5541325	5541325	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:5541325C>T	ENST00000380332.3	-	1	208	c.77G>A	c.(76-78)gGc>gAc	p.G26D		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	26	EF-hand 1.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						ATTGATGGTGCCGTTTCCATC	0.627000													23	36					0	0	0.003954	0	0
GLRA1	2741	broad.mit.edu	37	5	151239346	151239346	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:151239346C>T	ENST00000274576.4	-	4	768	c.476_splice	c.e4+1	p.R159_splice	GLRA1_ENST00000545569.1_Splice_Site_p.R76_splice|GLRA1_ENST00000455880.2_Splice_Site_p.R159_splice|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	159					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R159K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAACTCACCTGATGCTGTA	0.517000													8	24					0	0	0.006214	0	0
BRWD3	254065	broad.mit.edu	37	X	79947403	79947403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:79947403G>A	ENST00000373275.4	-	30	3616	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1134										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTCCTTCCTGGGGTTTGTAT	0.443000													28	18					0	0	0.005443	0	0
GLMN	11146	broad.mit.edu	37	1	92752119	92752119	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:92752119C>T	ENST00000370360.3	-	7	744	c.663G>A	c.(661-663)ctG>ctA	p.L221L	GLMN_ENST00000534881.1_Silent_p.L221L	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	221					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATTGTGCTGTCAGCAAAGGGC	0.338000									Multiple Glomus Tumors (of the Skin), Familial				29	26					0	0	0.002445	0	0
SUN1	23353	broad.mit.edu	37	7	888141	888141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:888141C>T	ENST00000456758.2	+	9	919	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000413514.2_5'UTR			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAACTTTTTCAAGTGGTTTT	0.338000													100	109					0	0	0.003610	0	0
OVGP1	5016	broad.mit.edu	37	1	111964242	111964242	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:111964242C>T	ENST00000369732.3	-	7	717	c.662G>A	c.(661-663)aGg>aAg	p.R221K	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	221					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTGTGAACCTTTCCCAACT	0.478000													24	64					0	0	0.005443	0	0
C7	730	broad.mit.edu	37	5	40936474	40936474	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:40936474G>A	ENST00000313164.9	+	5	674	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	105	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTTGCAATGGGGATTCTGACT	0.453000													10	18					0	0	0.006214	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432122	67432122	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:67432122G>A	ENST00000348579.2	-	8	1261	c.920C>T	c.(919-921)cCc>cTc	p.P307L		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	307						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TACCTGAATGGGCCGCATCTT	0.622000													23	48					0	0	0.002780	0	0
ZAN	7455	broad.mit.edu	37	7	100392822	100392822	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100392822C>T	ENST00000542585.1	+	0	8340				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGCAGAAAGCCCGTGTCTGC	0.647000													4	14					0	0	0.000248	0	0
BIRC6	57448	broad.mit.edu	37	2	32828126	32828126	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:32828126T>G	ENST00000421745.2	+	71	14180	c.14046T>G	c.(14044-14046)aaT>aaG	p.N4682K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4682	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAAGTGGAATCCTCAGACCT	0.328000													9	30					0	0	0.006214	0	0
NEB	4703	broad.mit.edu	37	2	152348944	152348944	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:152348944G>A	ENST00000427231.2	-	177	25032	c.24830C>T	c.(24829-24831)cCc>cTc	p.P8277L	RIF1_ENST00000457745.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.P8277L|NEB_ENST00000603639.1_Missense_Mutation_p.P8277L|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000409198.1_Missense_Mutation_p.P6421L|NEB_ENST00000604864.1_Missense_Mutation_p.P8277L|NEB_ENST00000397336.2_Missense_Mutation_p.P252L|NEB_ENST00000172853.10_Missense_Mutation_p.P6421L|NEB_ENST00000509223.2_Missense_Mutation_p.P190L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6587					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCATCTCGGGGGTATCCAA	0.488000													17	30					0	0	0.001882	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	25					0	0	0.000602	0	0
PSG6	5675	broad.mit.edu	37	19	43411751	43411751	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:43411751T>C	ENST00000187910.2	-	4	1027	c.962A>G	c.(961-963)aAc>aGc	p.N321S	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.N321S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGTGACTGGGTTACTGCGGAT	0.507000													29	67					0	0	0.003271	0	0
ZNF845	91664	broad.mit.edu	37	19	53855350	53855350	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53855350G>A	ENST00000458035.1	+	4	1539	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	ZNF845_ENST00000595091.1_Silent_p.K474K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTGTGGCAAGACCTTCAGTC	0.378000													21	7					0	0	0.001882	0	0
CD180	4064	broad.mit.edu	37	5	66480083	66480083	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:66480083C>T	ENST00000256447.4	-	3	745	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	196					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCCTGCTCCAGAGACCTCA	0.413000													19	69					0	0	0.006122	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174952	207174952	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:207174952C>T	ENST00000374423.3	+	5	6086	c.5700C>T	c.(5698-5700)gtC>gtT	p.V1900V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1900							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGATATTGTCTGTGGTATTT	0.473000													22	21					0	0	0.002780	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101726728	101726728	+	Silent	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:101726728A>C	ENST00000506729.1	-	11	2007	c.1836T>G	c.(1834-1836)cgT>cgG	p.R612R	SLCO6A1_ENST00000389019.3_Silent_p.R550R|SLCO6A1_ENST00000379810.1_Silent_p.R359R|SLCO6A1_ENST00000379807.3_Silent_p.R612R|SLCO6A1_ENST00000513675.1_Silent_p.R359R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	612						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGGCCAGAGAACGCAGTTTGT	0.333000													36	110					0	0	0.006999	0	0
OR7G1	125962	broad.mit.edu	37	19	9226424	9226424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9226424G>A	ENST00000293614.1	-	1	15	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	OR7G1_ENST00000541538.1_Nonsense_Mutation_p.Q6*			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ACAGCTGTTTGGTTTCTGGGT	0.428000													51	40					0	0	0.003610	0	0
TXLNA	200081	broad.mit.edu	37	1	32650174	32650174	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:32650174C>T	ENST00000373609.1	+	3	835	c.554C>T	c.(553-555)cCa>cTa	p.P185L	TXLNA_ENST00000373610.3_Missense_Mutation_p.P185L			P40222	TXLNA_HUMAN	taxilin alpha	185					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGAGTACCCCAGAGGAGAAG	0.552000													29	87					0	0	0.004289	0	0
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522000													114	164					0	0	0.003610	0	0
ANXA7	310	broad.mit.edu	37	10	75158049	75158049	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:75158049G>A	ENST00000372921.4	-	3	205	c.149C>T	c.(148-150)cCa>cTa	p.P50L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	50	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GCCACTACTTGGCACTTGTGG	0.592000													11	9					0	0	0.001368	0	0
ARPC1B	10095	broad.mit.edu	37	7	98985838	98985838	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:98985838G>A	ENST00000451682.1	+	6	655	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	ARPC1B_ENST00000252725.5_Missense_Mutation_p.G116S|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	116					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGGGCAGCGGCTCTCGTGT	0.632000													10	35					0	0	0.001368	0	0
CASZ1	54897	broad.mit.edu	37	1	10714522	10714522	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:10714522C>T	ENST00000377022.3	-	10	2109	c.1792G>A	c.(1792-1794)Gcc>Acc	p.A598T	CASZ1_ENST00000344008.5_Missense_Mutation_p.A598T	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGCAGTCGGCTGTGCCACAG	0.597000													26	48					0	0	0.003330	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660923	233660923	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:233660923A>C	ENST00000373566.3	+	15	1894	c.1697A>C	c.(1696-1698)gAa>gCa	p.E566A	GIGYF2_ENST00000373563.4_Missense_Mutation_p.E544A|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E375A|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E544A|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E538A|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E565A|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E566A			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	544	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCTCAGGGAGAAATTCAAGGC	0.378000													13	37					0	0	0.001855	0	0
TMEM81	388730	broad.mit.edu	37	1	205053200	205053200	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:205053200G>A	ENST00000367167.3	-	1	445	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	83	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AGATCCAGTTGGTCAGACATT	0.502000													70	49					0	0	0.003610	0	0
SNX7	51375	broad.mit.edu	37	1	99167425	99167425	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:99167425A>C	ENST00000370189.5	+	8	1263	c.899A>C	c.(898-900)gAa>gCa	p.E300A	SNX7_ENST00000529992.1_Missense_Mutation_p.E309A|SNX7_ENST00000306121.3_Missense_Mutation_p.E364A			Q9UNH6	SNX7_HUMAN	sorting nexin 7	300					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TCCAAAGTTGAAGTTTTGACC	0.289000													117	84					0	0	0.003610	0	0
FJX1	24147	broad.mit.edu	37	11	35640989	35640989	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:35640989C>T	ENST00000317811.4	+	1	1255	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	269						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GCGCCCCCTCCGGGATGCCGG	0.672000													12	9					0	0	0.002450	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729760	37729760	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:37729760C>T	ENST00000539465.1	+	8	1241	c.648C>T	c.(646-648)atC>atT	p.I216I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.I38I|FRMPD1_ENST00000377765.3_Silent_p.I216I|FRMPD1_ENST00000541302.1_Silent_p.I85I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	216	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCTGTCCATCCGAAGTATCG	0.562000													48	29					0	0	0.003610	0	0
MYO18A	399687	broad.mit.edu	37	17	27437631	27437631	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:27437631G>A	ENST00000527372.1	-	18	3090	c.2910C>T	c.(2908-2910)atC>atT	p.I970I	MYO18A_ENST00000533112.1_Silent_p.I970I|MYO18A_ENST00000354329.4_Silent_p.I970I|MYO18A_ENST00000531253.1_Silent_p.I970I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	970	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACAGGTTGCTGATGATTTTTC	0.637000													11	8					0	0	0.000978	0	0
SP7	121340	broad.mit.edu	37	12	53722058	53722058	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53722058C>T	ENST00000536324.2	-	3	1451	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SP7_ENST00000303846.3_Missense_Mutation_p.E390K|SP7_ENST00000537210.2_Missense_Mutation_p.E372K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TCCCCCAGCTCCTTGGGGCCA	0.687000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	0.001168	0	0
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:130947959G>A	ENST00000538431.1	-	5	702	c.455C>T	c.(454-456)cCc>cTc	p.P152L	CIZ1_ENST00000372954.1_Missense_Mutation_p.P128L|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128L|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152L|CIZ1_ENST00000393608.1_Missense_Mutation_p.P152L|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152L|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152L|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152L|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51L	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612000													13	25					0	0	0.001368	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54105760	54105760	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:54105760A>C	ENST00000262059.4	-	15	2406	c.2041T>G	c.(2041-2043)Ttc>Gtc	p.F681V	CALCOCO1_ENST00000548263.1_3'UTR|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.F682V|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.F597V	NM_020898.2	NP_065949.1	Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	682	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGGTGCTGAAAAAGAAGTGT	0.507000													6	20					0	0	0.001984	0	0
LIPI	149998	broad.mit.edu	37	21	15538740	15538740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:15538740C>T	ENST00000344577.2	-	5	764	c.739G>A	c.(739-741)Gat>Aat	p.D247N	LIPI_ENST00000536861.1_Missense_Mutation_p.D226N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	226					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGATAAAAATCTATATGTCCC	0.343000													24	52					0	0	0.004656	0	0
INTS2	57508	broad.mit.edu	37	17	60003783	60003783	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:60003783A>C	ENST00000444766.3	-	2	322	c.247T>G	c.(247-249)Tcc>Gcc	p.S83A	INTS2_ENST00000251334.6_Missense_Mutation_p.S75A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	83					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GCAACAATGGAGTTGACAGCT	0.448000													38	60					0	0	0.006999	0	0
CDH7	1005	broad.mit.edu	37	18	63477063	63477063	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:63477063C>T	ENST00000536984.2	+	3	1028	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	CDH7_ENST00000323011.3_Missense_Mutation_p.R112C|CDH7_ENST00000397968.2_Missense_Mutation_p.R112C			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGACTGGATCGTGAGGAGCA	0.498000													14	21					0	0	0.001855	0	0
FBXL6	26233	broad.mit.edu	37	8	145579875	145579875	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:145579875C>T	ENST00000331890.5	-	8	1290		c.e8-1		FBXL6_ENST00000455319.2_Splice_Site|FBXL6_ENST00000526524.1_Intron	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6						proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCTCCAGCTCTGCAGTGAAA	0.602000													27	18					0	0	0.007291	0	0
PCK1	5105	broad.mit.edu	37	20	56139630	56139630	+	Missense_Mutation	SNP	C	C	T	rs28359550	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:56139630C>T	ENST00000319441.4	+	8	1443	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	PCK1_ENST00000543666.1_Missense_Mutation_p.P110S|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	427			P -> S (in dbSNP:rs28359550).		gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGAAGGTGTTCCCATTGAAGG	0.567000													71	65					0	0	0.003610	0	0
FBXO11	80204	broad.mit.edu	37	2	48066079	48066079	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:48066079G>A	ENST00000403359.3	-	4	578	c.506C>T	c.(505-507)tCt>tTt	p.S169F	FBXO11_ENST00000316377.4_Missense_Mutation_p.S85F|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Missense_Mutation_p.S51F|FBXO11_ENST00000402508.1_Missense_Mutation_p.S85F	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	169	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCAAGTAAGAGAAGATTTT	0.378000			"""Mis, F, D"""		DLBCL								24	23					0	0	0.003954	0	0
KAL1	3730	broad.mit.edu	37	X	8503632	8503632	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:8503632G>A	ENST00000262648.3	-	12	1991	c.1842_splice	c.e12+1	p.S614_splice	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	614	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGGGACCTACGGAAGGCAGGA	0.498000													10	31					0	0	0.001855	0	0
PEX11B	8799	broad.mit.edu	37	1	145522632	145522632	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:145522632C>G	ENST00000369306.3	+	4	642	c.493C>G	c.(493-495)Cca>Gca	p.P165A	PEX11B_ENST00000537888.1_Missense_Mutation_p.P151A	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	165	Gly-rich.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGAGTCCCAGGAGGAAG	0.562000													41	116					0	0	0.006999	0	0
DUOX2	50506	broad.mit.edu	37	15	45387780	45387780	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:45387780C>T	ENST00000389039.6	-	31	4479	c.4094G>A	c.(4093-4095)gGa>gAa	p.G1365E	DUOX2_ENST00000603300.1_Missense_Mutation_p.G1365E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1365	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCAAACGGTCCATCAAGGTA	0.567000													21	21					0	0	0.002299	0	0
KRT10	3858	broad.mit.edu	37	17	38978795	38978795	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:38978795G>A	ENST00000269576.5	-	1	52	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	15	Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cctccACTGCGGGAGGAAGAG	0.527000													31	22					0	0	0.008361	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155922578	155922578	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:155922578G>C	ENST00000368316.1	-	19	2211	c.1741C>G	c.(1741-1743)Cga>Gga	p.R581G	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R609G|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R581G|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R610G|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R608G			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	609					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTTCTCTCGCAGCAGCTCC	0.602000													49	254					0	0	0.003610	0	0
DNALI1	7802	broad.mit.edu	37	1	38027681	38027681	+	Splice_Site	SNP	G	G	A	rs139950326		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:38027681G>A	ENST00000296218.7	+	5	652		c.e5-1		DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Splice_Site	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1						cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCTCCTCAGATCGCAGAAT	0.547000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	48					0	0	0.003163	0	0
TCEB3	6924	broad.mit.edu	37	1	24078019	24078019	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:24078019C>T	ENST00000418390.2	+	4	1273	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	334					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGGGCAGCAGCCTGAAGAAGA	0.527000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	29					0	0	0.002450	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964076	33964076	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:33964076G>A	ENST00000382102.3	-	3	665	c.608C>T	c.(607-609)gCc>gTc	p.A203V	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.A144V|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.A203V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	203					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTCCAGATGGGCCCAGTCTAT	0.443000													19	24					0	0	0.001882	0	0
STX3	6809	broad.mit.edu	37	11	59559649	59559649	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:59559649G>A	ENST00000535361.1	+	6	974	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	STX3_ENST00000337979.4_Missense_Mutation_p.E143K|STX3_ENST00000437946.2_Missense_Mutation_p.E46K|STX3_ENST00000529177.1_Missense_Mutation_p.E143K|STX3_ENST00000300150.7_Missense_Mutation_p.E112K			Q13277	STX3_HUMAN	syntaxin 3	143					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GGACTTCCGAGAACGCAGCAA	0.517000													20	14					0	0	0.001523	0	0
DOCK11	139818	broad.mit.edu	37	X	117695392	117695392	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:117695392C>T	ENST00000276204.6	+	7	679	c.605C>T	c.(604-606)tCa>tTa	p.S202L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S202L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	202	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCTGACGGTTCATATATTCTC	0.368000													66	58					0	0	0.003610	0	0
TRPV6	55503	broad.mit.edu	37	7	142571386	142571386	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142571386C>T	ENST00000359396.3	-	13	1848	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	535					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGAACAGCTCGAAGGTGCTG	0.557000													81	128					0	0	0.003610	0	0
NEFL	4747	broad.mit.edu	37	8	24813811	24813811	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:24813811C>T	ENST00000221169.5	-	0	813							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTACCTGGCTCAGGTCGAGGT	0.627000													7	4					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100696390	100696390	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100696390C>T	ENST00000306151.4	+	10	13291	c.13227C>T	c.(13225-13227)ctC>ctT	p.L4409L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4409						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTAGCTCTCCTGATGCTCG	0.597000													14	29					0	0	0.004990	0	0
WDR93	56964	broad.mit.edu	37	15	90260155	90260155	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:90260155C>T	ENST00000268130.7	+	7	871	c.770C>T	c.(769-771)cCc>cTc	p.P257L	WDR93_ENST00000560294.1_Missense_Mutation_p.P257L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	257					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.P257L(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCCTTGGTCCCATTTCTGCA	0.323000													20	60					0	0	0.002780	0	0
UGGT1	56886	broad.mit.edu	37	2	128877960	128877960	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:128877960G>A	ENST00000375990.3	+	9	1234	c.831G>A	c.(829-831)ttG>ttA	p.L277L	UGGT1_ENST00000259253.6_Silent_p.L301L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	301					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGACAGTTGAAAGAACTCA	0.413000													43	110					0	0	0.003610	0	0
RHEB	6009	broad.mit.edu	37	7	151216561	151216561	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:151216561C>T	ENST00000262187.5	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	RHEB_ENST00000496004.1_Intron	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	13					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GACCGGTAGCCCAGGATCGCG	0.741000													8	7					0	0	0.006214	0	0
NLRP2	55655	broad.mit.edu	37	19	55493636	55493636	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:55493636G>A	ENST00000543010.1	+	6	713	c.570G>A	c.(568-570)aaG>aaA	p.K190K	NLRP2_ENST00000391721.4_Silent_p.K166K|NLRP2_ENST00000448584.2_Silent_p.K190K|NLRP2_ENST00000263437.6_Silent_p.K187K|NLRP2_ENST00000538819.1_Silent_p.K166K|NLRP2_ENST00000427260.2_Silent_p.K167K|NLRP2_ENST00000537859.1_Silent_p.K168K|NLRP2_ENST00000339757.7_Silent_p.K168K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGATACAAGATGCTGATCC	0.542000													42	119					0	0	0.003214	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666905	150666905	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:150666905C>T	ENST00000335230.3	-	6	1021	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V245M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	204						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATAAACACCAACAGGATC	0.517000													17	67					0	0	0.004990	0	0
LIMD1	8994	broad.mit.edu	37	3	45637070	45637070	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:45637070C>T	ENST00000273317.4	+	1	720	c.699C>T	c.(697-699)tcC>tcT	p.S233S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.S233S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	233					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GACAGCTCTCCCTGAGCTCCA	0.627000													35	37					0	0	0.006230	0	0
BAG5	9529	broad.mit.edu	37	14	104026188	104026188	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:104026188G>A	ENST00000445922.2	-	2	1560	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	BAG5_ENST00000337322.4_Silent_p.L479L|BAG5_ENST00000299204.4_Silent_p.L438L|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	438	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			ATTTCAGGTCGAGATAGCTGA	0.453000													30	88					0	0	0.002096	0	0
TEFM	79736	broad.mit.edu	37	17	29231456	29231456	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:29231456C>T	ENST00000580840.1	-	2	159	c.123G>A	c.(121-123)aaG>aaA	p.K41K	TEFM_ENST00000581216.1_Silent_p.K41K			Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	41					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAGTAATTTTCTTAGGTGTAG	0.443000													16	53					0	0	0.003163	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734281	12734281	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:12734281C>T	ENST00000380682.1	+	15	2209	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	568					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACAAGAAGCCCAGATAACA	0.463000													64	77					0	0	0.003610	0	0
DOCK7	85440	broad.mit.edu	37	1	63099247	63099247	+	Silent	SNP	T	T	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:63099247T>A	ENST00000251157.5	-	10	1071	c.1038A>T	c.(1036-1038)ctA>ctT	p.L346L	DOCK7_ENST00000404627.2_Silent_p.L346L|DOCK7_ENST00000340370.5_Silent_p.L346L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	346					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGACTTTTTCTAGCTGTCAAA	0.343000													44	108					0	0	0.003214	0	0
TCP10	6953	broad.mit.edu	37	6	167786682	167786682	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:167786682G>A	ENST00000397829.4	-	8	1123	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGTCTGGAGGGAGCGGCGTG	0.537000													23	26					0	0	0.003954	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160753	123160753	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:123160753C>T	ENST00000264501.4	+	29	4289	c.3916C>T	c.(3916-3918)Ccc>Tcc	p.P1306S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1306S|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1306S			Q2LD37	K1109_HUMAN	KIAA1109	1306					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTAGATCTCCCTTGAAACG	0.448000													56	5					0	0	0.003610	0	0
ERBB3	2065	broad.mit.edu	37	12	56479031	56479031	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:56479031G>A	ENST00000411731.2	+	3	651	c.487G>A	c.(487-489)Gat>Aat	p.D163N	ERBB3_ENST00000267101.3_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Intron	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	0					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTCCTTGATGATGACCCAAG	0.587000													28	15					0	0	0.004656	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492586	74492586	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:74492586C>T	ENST00000354431.4	-	8	1977	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.A596T	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	596										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCACAGGCTTTTTCAAAG	0.303000													18	14					0	0	0.006122	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984693	51984693	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:51984693G>A	ENST00000396477.4	+	3	468	c.447G>A	c.(445-447)gtG>gtA	p.V149V	CEACAM18_ENST00000451626.1_Silent_p.V210V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	210						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTCCCTGGTGGAGAACATGG	0.502000													17	33					0	0	0.004990	0	0
TIAM2	26230	broad.mit.edu	37	6	155485620	155485620	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:155485620C>T	ENST00000461783.3	+	10	3373	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	TIAM2_ENST00000529824.2_Silent_p.S700S|TIAM2_ENST00000367174.2_Silent_p.S52S|TIAM2_ENST00000318981.5_Silent_p.S700S|TIAM2_ENST00000456144.1_Silent_p.S700S|TIAM2_ENST00000456877.2_Silent_p.S12S|TIAM2_ENST00000360366.4_Silent_p.S700S|TIAM2_ENST00000528391.2_Silent_p.S12S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	700					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCTGGCCAGCCTACAAGGTG	0.522000													66	8					0	0	0.003610	0	0
OR4C11	219429	broad.mit.edu	37	11	55371520	55371520	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:55371520G>A	ENST00000302231.4	-	1	354	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGGACAAAGATCTCCATGC	0.433000													38	19					0	0	0.006230	0	0
DUSP7	1849	broad.mit.edu	37	3	52088053	52088053	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:52088053G>A	ENST00000495880.1	-	2	1038	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DUSP7_ENST00000296483.6_Silent_p.F234F			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	285					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCGTGCTCGAAGGCGTTGG	0.562000													54	77					0	0	0.003610	0	0
CA1	759	broad.mit.edu	37	8	86244770	86244770	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:86244770G>A	ENST00000523953.1	-	7	1508	c.462C>T	c.(460-462)gcC>gcT	p.A154A	CA1_ENST00000256119.5_Silent_p.A154A|CA1_ENST00000542576.1_Silent_p.A154A|CA1_ENST00000431316.1_Silent_p.A154A|CA1_ENST00000523022.1_Silent_p.A154A|CA1_ENST00000432364.2_Silent_p.A154A|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	154					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTTTGGGTTGGCCTCACCAA	0.318000													23	14					0	0	0.006320	0	0
PTPN7	5778	broad.mit.edu	37	1	202128597	202128597	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:202128597C>T	ENST00000367279.4	-	1	522	c.51G>A	c.(49-51)agG>agA	p.R17R	PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AAGACAGGGCCCTCCGCTGCT	0.637000													35	37					0	0	0.002445	0	0
TXLNB	167838	broad.mit.edu	37	6	139564176	139564176	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:139564176C>T	ENST00000358430.3	-	10	1774	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	514						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCGGGGTTGACTCTGGATGAT	0.522000													32	70					0	0	0.005524	0	0
KIF4B	285643	broad.mit.edu	37	5	154393924	154393924	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:154393924G>A	ENST00000435029.4	+	1	665	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	169	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATCCTAAGGAAGGCATAAA	0.418000													35	112					0	0	0.004289	0	0
OR4K13	390433	broad.mit.edu	37	14	20502632	20502632	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:20502632C>T	ENST00000315693.2	-	1	287	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAATAACATCCCCACCATGAG	0.463000													15	55					0	0	0.003163	0	0
SMG6	23293	broad.mit.edu	37	17	2203844	2203844	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:2203844G>A	ENST00000544865.1	-	2	620	c.110C>T	c.(109-111)cCc>cTc	p.P37L	SMG6_ENST00000263073.5_Missense_Mutation_p.P68L			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	68					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCCAGGGGGTTCCTTGAT	0.473000													49	64					0	0	0.003610	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542297	154542297	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:154542297T>C	ENST00000368476.3	+	3	504	c.240T>C	c.(238-240)aaT>aaC	p.N80N		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	80					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TGACCACCAATGTCTGGCTGA	0.572000													181	54					0	0	0.003610	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891232	4891232	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:4891232G>A	ENST00000381781.2	-	3	854	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	285					signal transduction			p.D285D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGATCTCACCGTCCTGCGTGC	0.617000													7	121					0	0	0.003080	0	0
MFSD10	10227	broad.mit.edu	37	4	2933363	2933363	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:2933363G>A	ENST00000329687.4	-	8	1476	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MFSD10_ENST00000355443.4_Silent_p.L314L|MFSD10_ENST00000514800.1_Silent_p.L314L|MFSD10_ENST00000508221.1_Silent_p.L314L|MFSD10_ENST00000507555.1_Intron	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	314					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGAGGCCGATGAGGAAAAACA	0.672000													11	2					0	0	0.008291	0	0
MALAT1	378938	broad.mit.edu	37	11	65271744	65271744	+	RNA	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65271744G>A	ENST00000534336.1	+	0	6512					NR_002819.2																						GAATTTGGAGGGATGGGAGGA	0.423000													16	14					0	0	0.004990	0	0
AMZ1	155185	broad.mit.edu	37	7	2748315	2748315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:2748315G>A	ENST00000312371.4	+	4	934	c.566G>A	c.(565-567)tGg>tAg	p.W189*	AMZ1_ENST00000407112.1_Nonsense_Mutation_p.W189*|AMZ1_ENST00000489665.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	189							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CATGAGGCCTGGAGCTTCACC	0.652000													34	31					0	0	0.006999	0	0
PMEL	6490	broad.mit.edu	37	12	56355474	56355474	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:56355474C>T	ENST00000548747.1	-	2	781	c.119G>A	c.(118-120)aGa>aAa	p.R40K	PMEL_ENST00000449260.2_Missense_Mutation_p.R40K|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.R40K|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.R40K|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.R40K|PMEL_ENST00000548493.1_Missense_Mutation_p.R40K			P40967	PMEL_HUMAN	premelanosome protein	40					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCTTTGGTTCTGAGTTGCCT	0.522000													27	76					0	0	0.007291	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210189	65210189	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:65210189G>A	ENST00000247226.7	+	15	3568	c.3260G>A	c.(3259-3261)cGg>cAg	p.R1087Q	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R676Q|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R648Q|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1143Q	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1143					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GACAACCGGCGGGTGATTGTC	0.667000													28	15					0	0	0.007291	0	0
PLCG2	5336	broad.mit.edu	37	16	81957190	81957190	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:81957190C>G	ENST00000359376.3	+	22	2622	c.2408C>G	c.(2407-2409)cCc>cGc	p.P803R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	803	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAAGGAGCCCGGGGGCTGG	0.582000													8	23					0	0	0.004482	0	0
KRT77	374454	broad.mit.edu	37	12	53085114	53085114	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53085114G>A	ENST00000341809.3	-	9	1600	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	KRT77_ENST00000537195.1_Silent_p.S291S	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	524	Tail.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ctccgcggtagcttcttccgc	0.751000													5	2					0	0	0.000602	0	0
TIAM2	26230	broad.mit.edu	37	6	155485621	155485621	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:155485621C>T	ENST00000461783.3	+	10	3374	c.2101C>T	c.(2101-2103)Cta>Tta	p.L701L	TIAM2_ENST00000529824.2_Silent_p.L701L|TIAM2_ENST00000367174.2_Silent_p.L53L|TIAM2_ENST00000318981.5_Silent_p.L701L|TIAM2_ENST00000456144.1_Silent_p.L701L|TIAM2_ENST00000456877.2_Silent_p.L13L|TIAM2_ENST00000360366.4_Silent_p.L701L|TIAM2_ENST00000528391.2_Silent_p.L13L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	701					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCTGGCCAGCCTACAAGGTGG	0.527000													65	9					0	0	0.003610	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209180074	209180074	+	Missense_Mutation	SNP	C	C	T	rs149384342		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:209180074C>T	ENST00000264380.4	+	15	2142	c.1984C>T	c.(1984-1986)Cgt>Tgt	p.R662C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	662					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						CATGGATATCCGTCAGTTTGT	0.423000													12	11					0	0	0.001368	0	0
NPAP1	23742	broad.mit.edu	37	15	24922033	24922033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:24922033C>T	ENST00000329468.2	+	1	1493	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCGCTGCCCCCTTCACTGCCA	0.587000													17	24					0	0	0.006122	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789056	55789056	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:55789056G>A	ENST00000255631.5	-	4	679	c.369C>T	c.(367-369)gcC>gcT	p.A123A	HSPBP1_ENST00000587922.1_Silent_p.A123A|HSPBP1_ENST00000376343.3_Silent_p.A123A|HSPBP1_ENST00000433386.2_Silent_p.A123A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	126					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCAGCTCCAGGGCCCCCTCTC	0.667000													6	3					0	0	0.001984	0	0
CDCA4	55038	broad.mit.edu	37	14	105477609	105477609	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:105477609G>A	ENST00000336219.3	-	2	813	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDCA4_ENST00000392590.3_Missense_Mutation_p.P220S	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	220						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGGAGCTAGGGCCTGGGGTG	0.677000													8	19					0	0	0.003080	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185541	140185541	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:140185541C>T	ENST00000458420.3	+	8	1502	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	438					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGACACCTTTCGCCCCGCGGA	0.567000										HNSCC(16;0.037)			27	37					0	0	0.005443	0	0
XIRP2	129446	broad.mit.edu	37	2	168105182	168105182	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:168105182C>T	ENST00000409195.1	+	9	7369	c.7280C>T	c.(7279-7281)cCc>cTc	p.P2427L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2427L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2205L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2252					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						TTGCCCAAACCCAAACTTCCC	0.408000													57	51					0	0	0.003610	0	0
CXXC1	30827	broad.mit.edu	37	18	47810873	47810873	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:47810873G>A	ENST00000285106.6	-	9	1794	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	CXXC1_ENST00000589940.1_Silent_p.H360H|CXXC1_ENST00000412036.2_Silent_p.H364H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	360					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTCTCTGGGTGTTTCCATT	0.592000													28	41					0	0	0.006320	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578384	14578384	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:14578384C>T	ENST00000544627.1	+	2	1879	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	ATF7IP_ENST00000543189.1_Missense_Mutation_p.S512L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S512L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S512L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S512L|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	512	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAAGTTATATCGCAAAATGAA	0.323000													29	26					0	0	0.005443	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578483	42578483	+	Missense_Mutation	SNP	G	G	A	rs145811069	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:42578483G>A	ENST00000378669.1	-	4	1050	c.221C>T	c.(220-222)cCc>cTc	p.P74L	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.P74L			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	74					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						CAGGTAGACGGGCACACCATC	0.443000													12	30					0	0	0.002450	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306733	13306733	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:13306733G>A	ENST00000379300.3	-	7	935	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.S185F|TBC1D7_ENST00000379307.2_Missense_Mutation_p.S204F|TBC1D7_ENST00000356436.4_Missense_Mutation_p.S231F	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	231	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GATCTTACAGGATCCACTCAC	0.313000													66	77					0	0	0.003610	0	0
CABIN1	23523	broad.mit.edu	37	22	24563275	24563275	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:24563275C>T	ENST00000398319.2	+	32	6061	c.5676C>T	c.(5674-5676)atC>atT	p.I1892I	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Silent_p.I1813I|CABIN1_ENST00000337989.7_Silent_p.I317I|CABIN1_ENST00000263119.5_Silent_p.I1892I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1892					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACATGCTCATCAAGCAGGTGG	0.612000													27	50					0	0	0.008361	0	0
SACS	26278	broad.mit.edu	37	13	23911669	23911669	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr13:23911669G>A	ENST00000382298.3	-	10	6934	c.6346C>T	c.(6346-6348)Ccc>Tcc	p.P2116S	SACS_ENST00000402364.1_Missense_Mutation_p.P1366S|SACS_ENST00000382292.3_Missense_Mutation_p.P2116S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2116					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)		CGTCCTTCGGGGTGGATCAAT	0.393000													18	14					0	0	0.007413	0	0
DHX29	54505	broad.mit.edu	37	5	54593126	54593126	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:54593126G>A	ENST00000251636.5	-	3	510	c.362C>T	c.(361-363)gCc>gTc	p.A121V		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	121				A -> D (in Ref. 3; CAH56172).			ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAATTTTTTGGCAGTAAGTCT	0.313000													27	14					0	0	0.004656	0	0
TUBB6	84617	broad.mit.edu	37	18	12325477	12325477	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:12325477C>T	ENST00000317702.5	+	4	923	c.689C>T	c.(688-690)tCc>tTc	p.S230F	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	230					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CACCTGGTGTCCGCCACCATG	0.632000													35	31					0	0	0.005524	0	0
SMG6	23293	broad.mit.edu	37	17	2203845	2203845	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:2203845G>T	ENST00000544865.1	-	2	619	c.109C>A	c.(109-111)Ccc>Acc	p.P37T	SMG6_ENST00000263073.5_Missense_Mutation_p.P68T			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	68					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCCAGGGGGTTCCTTGATT	0.468000													50	64					3.86236e-30	6.09095e-30	0.003610	1	0
COL4A5	1287	broad.mit.edu	37	X	107866029	107866029	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:107866029G>A	ENST00000328300.6	+	33	3135	c.2891G>A	c.(2890-2892)gGa>gAa	p.G964E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G964E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	964	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCTCAAAAGGAGAGAAGGGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				55	65					0	0	0.003610	0	0
CLDN23	137075	broad.mit.edu	37	8	8560185	8560185	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:8560185C>T	ENST00000519106.1	+	1	738	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	93					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CGCCACGGTCCTGGGGCTTCT	0.716000													9	4					0	0	0.006214	0	0
POGZ	23126	broad.mit.edu	37	1	151395903	151395903	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:151395903C>T	ENST00000271715.2	-	10	1962	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	POGZ_ENST00000392723.1_Missense_Mutation_p.E497K|POGZ_ENST00000368863.2_Missense_Mutation_p.E455K|POGZ_ENST00000361398.3_Missense_Mutation_p.E497K|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Missense_Mutation_p.E488K|POGZ_ENST00000491586.1_Missense_Mutation_p.E497K|POGZ_ENST00000409503.1_Missense_Mutation_p.E541K	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	550					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAACATTTTCCAAGTGGCAC	0.473000													42	196					0	0	0.003610	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349042	103349042	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:103349042G>A	ENST00000357421.4	-	2	1079	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	300					transport	integral to membrane|mitochondrial inner membrane											CTCTTTCCTGGAGTGCGACTT	0.498000													35	38					0	0	0.006230	0	0
RASAL2	9462	broad.mit.edu	37	1	178420721	178420721	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:178420721C>T	ENST00000448150.3	+	10	2407	c.1589C>T	c.(1588-1590)gCt>gTt	p.A530V	RASAL2_ENST00000367649.3_Missense_Mutation_p.A548V|RASAL2_ENST00000462775.1_Missense_Mutation_p.A400V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	400					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTTATCAAAGCTTTGTATGAG	0.388000													41	91					0	0	0.003610	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512627	58512627	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:58512627C>T	ENST00000588627.1	-	0	730																											ATCAGCTTTTCCCTTTTTCCC	0.507000													11	11					0	0	0.001855	0	0
IFT172	26160	broad.mit.edu	37	2	27695080	27695080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:27695080G>A	ENST00000359466.6	-	15	1680	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	IFT172_ENST00000416524.2_Missense_Mutation_p.P500S|IFT172_ENST00000260570.3_Intron			Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	0					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGTGGGCCAGCCAATG	0.532000													17	42					0	0	0.006122	0	0
CXXC1	30827	broad.mit.edu	37	18	47810872	47810872	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:47810872G>A	ENST00000285106.6	-	9	1795	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	CXXC1_ENST00000589940.1_Missense_Mutation_p.P361S|CXXC1_ENST00000412036.2_Missense_Mutation_p.P365S	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	361					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCCTCTCTGGGTGTTTCCAT	0.587000													29	42					0	0	0.007291	0	0
TACR2	6865	broad.mit.edu	37	10	71164625	71164625	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:71164625C>T	ENST00000373306.4	-	5	1697	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	TACR2_ENST00000373307.1_Missense_Mutation_p.G173E	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	385					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	caaaccatacccaaaccatag	0.562000													6	8					0	0	0.001168	0	0
KIF2B	84643	broad.mit.edu	37	17	51902278	51902278	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:51902278T>C	ENST00000268919.4	+	1	2040	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	628					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAGCTGGTGGAGTACACC	0.428000													28	111					0	0	0.004656	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106069313	106069313	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:106069313C>T	ENST00000357242.5	+	6	1055	c.881C>T	c.(880-882)cCc>cTc	p.P294L	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P294L|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P294L|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P294L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	294	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTAGGCTGCCCAAAGGAGAG	0.368000													46	65					0	0	0.003610	0	0
ADCY10	55811	broad.mit.edu	37	1	167778983	167778983	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:167778983C>T	ENST00000367848.1	-	33	4986	c.4489G>A	c.(4489-4491)Gta>Ata	p.V1497I	ADCY10_ENST00000367851.4_Missense_Mutation_p.V1589I|ADCY10_ENST00000545172.1_Missense_Mutation_p.V1436I|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAATGTTTACCCTGCCTGCT	0.378000													190	69					0	0	0.003610	0	0
INTS2	57508	broad.mit.edu	37	17	60003782	60003782	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:60003782G>A	ENST00000444766.3	-	2	323	c.248C>T	c.(247-249)tCc>tTc	p.S83F	INTS2_ENST00000251334.6_Missense_Mutation_p.S75F	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	83					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCAACAATGGAGTTGACAGC	0.448000													38	61					0	0	0.006999	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593764	7593764	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:7593764C>T	ENST00000264079.6	+	9	1167	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	348					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGGAGCGGCTGGAATTTGT	0.622000													25	9					0	0	0.006320	0	0
LMF2	91289	broad.mit.edu	37	22	50942015	50942015	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:50942015G>A	ENST00000216080.5	-	14	2022	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	LMF2_ENST00000380796.3_Silent_p.L530L|LMF2_ENST00000474879.2_Silent_p.L643L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	643						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGCCATGAGGAGCCCCC	0.697000													9	6					0	0	0.004482	0	0
DSCAM	1826	broad.mit.edu	37	21	41514628	41514628	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:41514628G>A	ENST00000400454.1	-	18	3740	c.3263C>T	c.(3262-3264)cCc>cTc	p.P1088L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1088	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGGTAACTGGGCACTGAAAT	0.388000													62	34					0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109687704	109687704	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:109687704C>T	ENST00000277225.5	+	3	1800	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ZNF462_ENST00000457913.1_Missense_Mutation_p.S504F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCTGTGAATTCCCAGAGTGAA	0.458000													18	19					0	0	0.007413	0	0
MCF2L2	23101	broad.mit.edu	37	3	182933876	182933876	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:182933876G>A	ENST00000328913.3	-	22	2674	c.2377C>T	c.(2377-2379)Cca>Tca	p.P793S	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P793S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	793	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTTCTCTTTGGCCCATCCTGT	0.448000													28	46					0	0	0.007291	0	0
TMEM202	338949	broad.mit.edu	37	15	72700110	72700110	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:72700110G>T	ENST00000341689.3	+	5	752	c.698G>T	c.(697-699)aGa>aTa	p.R233I	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	233						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAACAGAGAGATCAAGGCTG	0.453000													17	41					3.32936e-07	5.17601e-07	0.006122	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651197	84651197	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:84651197C>T	ENST00000286744.5	+	21	3041	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ADAMTSL3_ENST00000567476.1_Silent_p.F939F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	939	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGACGATTCCAGAAATCTC	0.498000													24	49					0	0	0.003954	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748403	68748403	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:68748403G>A	ENST00000309106.3	-	1	52	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCCCTCTGGAATAGTTTAG	0.552000													35	16					0	0	0.003755	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909448	156909448	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156909448G>A	ENST00000368194.3	-	37	5027	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1290S|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P706S|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1290					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGTCCTTGGGGGTAGGTGT	0.562000													201	38					0	0	0.003610	0	0
IGHD	3495	broad.mit.edu	37	14	106306676	106306676	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:106306676C>T	ENST00000390556.2	-	0	1125																											AGTCCCCGTCCCAACCCTGGG	0.662000													4	6					0	0	0.000248	0	0
TRPV6	55503	broad.mit.edu	37	7	142572287	142572287	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142572287C>T	ENST00000359396.3	-	11	1654	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	470					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGAATCCTCGGGCGAAGTA	0.592000													52	68					0	0	0.003610	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730572	140730572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140730572C>T	ENST00000523390.1	+	1	745	c.745C>T	c.(745-747)Caa>Taa	p.Q249*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTAGCCTCCAAGAAAACGT	0.552000													42	26					0	0	0.002522	0	0
KRT1	3848	broad.mit.edu	37	12	53071150	53071150	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53071150C>T	ENST00000252244.3	-	5	1136	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	360	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGGGCTATATCCTCGTACTGG	0.512000													13	34					0	0	0.002450	0	0
SSH1	54434	broad.mit.edu	37	12	109201430	109201430	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:109201430G>A	ENST00000326495.5	-	8	803	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SSH1_ENST00000326470.5_Missense_Mutation_p.S248F|SSH1_ENST00000551165.1_Missense_Mutation_p.S237F|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	237					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGCGCGGGGGAGTCGGGCCG	0.627000													40	30					0	0	0.002522	0	0
PRG2	5553	broad.mit.edu	37	11	57157407	57157407	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:57157407G>A	ENST00000311862.5	-	2	84	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PRG2_ENST00000525955.1_Missense_Mutation_p.P4L|PRG2_ENST00000533605.1_Missense_Mutation_p.P4L|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P109L	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		CAGAAGTAAGGGGAGTTTCAT	0.428000													48	32					0	0	0.003610	0	0
FBXO47	494188	broad.mit.edu	37	17	37093469	37093469	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:37093469C>T	ENST00000378079.2	-	11	1517	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	440										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TACAGGACCTCCTTATGGAAG	0.418000													17	24					0	0	0.006122	0	0
ATP1A3	478	broad.mit.edu	37	19	42480654	42480654	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:42480654C>T	ENST00000545399.1	-	15	2200	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	ATP1A3_ENST00000302102.5_Missense_Mutation_p.E670K|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E640K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E681K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	670					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCAGGATCTCGTCGATTTGC	0.607000													15	37					0	0	0.003163	0	0
DHX29	54505	broad.mit.edu	37	5	54593125	54593125	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:54593125G>A	ENST00000251636.5	-	3	511	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	121				A -> D (in Ref. 3; CAH56172).			ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCAATTTTTTGGCAGTAAGTC	0.308000													28	13					0	0	0.005443	0	0
TCL1B	9623	broad.mit.edu	37	14	96157184	96157184	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:96157184C>T	ENST00000340722.7	+	2	325	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	92										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607000													10	43					0	0	0.008291	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969284	22969284	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:22969284G>A	ENST00000313077.7	+	22	2635	c.2510G>A	c.(2509-2511)gGg>gAg	p.G837E	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G837E|CYFIP1_ENST00000435939.2_Missense_Mutation_p.G406E	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	837					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCGCCCTACGGGAGGATCACC	0.612000													16	59					0	0	0.004007	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517822	158517822	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:158517822C>T	ENST00000302617.3	-	1	73	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGGCTGGTCGTGTTGGAAA	0.453000													50	71					0	0	0.003610	0	0
SF3A3	10946	broad.mit.edu	37	1	38423935	38423935	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:38423935C>T	ENST00000373019.4	-	17	2384	c.1428_splice	c.e17-1	p.E477_splice	SF3A3_ENST00000448721.2_Splice_Site_p.E424_splice	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	477					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATATTCTTCCTGAAAAGGA	0.433000													31	20					0	0	0.005524	0	0
ASB16	92591	broad.mit.edu	37	17	42248184	42248184	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:42248184C>T	ENST00000293414.1	+	1	111	c.27C>T	c.(25-27)acC>acT	p.T9T		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	9					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTTCACCTCCTCCATGC	0.687000													21	38					0	0	0.002780	0	0
UBN2	254048	broad.mit.edu	37	7	138946272	138946272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:138946272C>T	ENST00000288561.8	+	6	1180	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.Q394*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	394	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGAGCTGTTTCAGGAAGCTGA	0.493000													63	89					0	0	0.003610	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:104170392C>T	ENST00000374861.3	+	3	584	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF189_ENST00000339664.2_Silent_p.F114F|ZNF189_ENST00000259395.4_Silent_p.F72F	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000													8	9					0	0	0.004482	0	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:48866516C>T	ENST00000266594.1	+	1	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000													33	81					0	0	0.004878	0	0
TMCO1	54499	broad.mit.edu	37	1	165697279	165697279	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:165697279G>A	ENST00000367881.5	-	7	976	c.701C>T	c.(700-702)cCt>cTt	p.P234L	TMCO1_ENST00000580248.1_Missense_Mutation_p.P99L|TMCO1_ENST00000464650.1_Missense_Mutation_p.P99L|TMCO1_ENST00000392129.6_Missense_Mutation_p.P183L			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	183						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTCCCAGAAGGAGGTGGTGG	0.468000													49	375					0	0	0.003610	0	0
FAM184A	79632	broad.mit.edu	37	6	119341322	119341322	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:119341322G>A	ENST00000338891.7	-	4	1596	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	FAM184A_ENST00000522284.1_Missense_Mutation_p.H265Y|FAM184A_ENST00000521531.1_Missense_Mutation_p.H385Y|FAM184A_ENST00000368475.4_Missense_Mutation_p.H265Y|FAM184A_ENST00000352896.5_Missense_Mutation_p.H265Y|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	385										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTCCAATATGACCTATCCCC	0.308000													21	3					0	0	0.001882	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88247611	88247611	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:88247611C>T	ENST00000357081.3	-	14	2125	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E621K|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E673K|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.E499K|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	661					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						AAAATAGGCTCTTTGAATGGA	0.383000													11	14					0	0	0.001368	0	0
DLC1	10395	broad.mit.edu	37	8	12957028	12957028	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:12957028C>T	ENST00000276297.4	-	9	3227	c.2818G>A	c.(2818-2820)Gtc>Atc	p.V940I	DLC1_ENST00000358919.2_Missense_Mutation_p.V503I|DLC1_ENST00000520226.1_Missense_Mutation_p.V429I|DLC1_ENST00000512044.2_Missense_Mutation_p.V537I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	940					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGAGAGACCGAGTCCAGG	0.562000													18	26					0	0	0.008871	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392598	140392598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:140392598C>T	ENST00000406427.1	-	17	2193	c.1857G>A	c.(1855-1857)tgG>tgA	p.W619*	PNPLA7_ENST00000371457.1_Nonsense_Mutation_p.W200*|PNPLA7_ENST00000277531.4_Nonsense_Mutation_p.W594*	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	594					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCTCCACCCAGTCCAGGG	0.627000													11	17					0	0	0.001368	0	0
TMC3	342125	broad.mit.edu	37	15	81660594	81660594	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:81660594C>T	ENST00000558726.1	-	3	447	c.312_splice	c.e3+1	p.E104_splice	TMC3_ENST00000359440.5_Splice_Site_p.E104_splice			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	104						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTGTATTACCTCTGCACCTG	0.527000													68	44					0	0	0.003610	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													33	79					0	0	0.001786	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191956	71191956	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:71191956G>A	ENST00000234396.4	+	13	1412	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E430K|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	447					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCTCTACCTGGAATTCCTGCA	0.582000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0	0	0.001368	0	0
YPEL2	388403	broad.mit.edu	37	17	57430800	57430800	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:57430800C>T	ENST00000312655.4	+	2	348	c.30C>T	c.(28-30)ttC>ttT	p.F10F	YPEL2_ENST00000585166.1_Silent_p.F10F|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	10						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CGAAGACTTTCCAGGCATATC	0.542000													54	44					0	0	0.003610	0	0
FEM1C	56929	broad.mit.edu	37	5	114879096	114879096	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:114879096G>A	ENST00000274457.3	-	2	656	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	32						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GATCAAGGAGGAAACCTCCTC	0.483000													44	25					0	0	0.002522	0	0
MED26	9441	broad.mit.edu	37	19	16687167	16687167	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:16687167G>A	ENST00000263390.3	-	3	1736	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	492					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGCTCTGCCGGCTCAGGTAG	0.627000													37	26					0	0	0.005524	0	0
TULP4	56995	broad.mit.edu	37	6	158923752	158923752	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:158923752C>T	ENST00000367097.3	+	13	4414	c.3057C>T	c.(3055-3057)ccC>ccT	p.P1019P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1019					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.V1022fs*80(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGGCGGGCCCGGGGGGGTGG	0.726000													6	0					0	0	0.001168	0	0
FLNA	2316	broad.mit.edu	37	X	153595894	153595894	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:153595894T>C	ENST00000422373.1	-	5	987	c.739A>G	c.(739-741)Att>Gtt	p.I247V	FLNA_ENST00000344736.4_Missense_Mutation_p.I247V|FLNA_ENST00000360319.4_Missense_Mutation_p.I247V|FLNA_ENST00000369850.3_Missense_Mutation_p.I247V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	247	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTCCACAATCTCCTCGGGG	0.612000													27	91					0	0	0.006320	0	0
RS1	6247	broad.mit.edu	37	X	18662560	18662560	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:18662560C>T	ENST00000379984.3	-	5	552	c.512G>A	c.(511-513)gGa>gAa	p.G171E	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	171	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGTTGTTTCCAGTCTGGTC	0.567000													38	68					0	0	0.006230	0	0
LMNA	4000	broad.mit.edu	37	1	156108345	156108345	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156108345G>C	ENST00000368300.4	+	11	1977	c.1765G>C	c.(1765-1767)Ggg>Cgg	p.G589R	LMNA_ENST00000368299.3_Missense_Mutation_p.G589R|LMNA_ENST00000448611.2_Missense_Mutation_p.G477R|LMNA_ENST00000473598.2_Missense_Mutation_p.G490R|LMNA_ENST00000347559.2_Missense_Mutation_p.G559R|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	589	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGTGCTGTGCGGGACCTGCGG	0.697000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				21	286					0	0	0.001882	0	0
RIMS4	140730	broad.mit.edu	37	20	43386399	43386399	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:43386399G>A	ENST00000372851.3	-	4	429	c.363C>T	c.(361-363)atC>atT	p.I121I	RIMS4_ENST00000541604.2_Silent_p.I122I	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	121	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGCAGACCGATCTCCACAT	0.557000													39	43					0	0	0.006999	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242303	18242303	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:18242303A>T	ENST00000377369.2	+	2	371	c.98A>T	c.(97-99)gAt>gTt	p.D33V	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D33V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D33V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	33					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCAGCCCAGGATAGCAGAAGC	0.527000													14	30					0	0	0.002450	0	0
E4F1	1877	broad.mit.edu	37	16	2284258	2284258	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:2284258G>A	ENST00000301727.4	+	10	1510	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.E488K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	488	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCACGTGCGTGAGCGCCGCTT	0.672000													13	37					0	0	0.002450	0	0
RSF1	51773	broad.mit.edu	37	11	77412662	77412662	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:77412662C>T	ENST00000308488.6	-	6	1914	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	RSF1_ENST00000480887.1_Missense_Mutation_p.E286K|RSF1_ENST00000360355.2_Missense_Mutation_p.E507K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	538					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGAGAAGTTTCCATTTCTGGA	0.413000													98	69					0	0	0.003610	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063226	41063226	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41063226C>T	ENST00000352632.3	+	26	5673	c.5587C>T	c.(5587-5589)Ccg>Tcg	p.P1863S	SPTBN4_ENST00000392025.1_Missense_Mutation_p.P606S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.P1863S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.P1863S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.P1863S|SPTBN4_ENST00000392023.1_Missense_Mutation_p.P539S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1863					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGACCACCCCGCCTGAGCC	0.662000													30	28					0	0	0.002445	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107291	95107291	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:95107291C>T	ENST00000469935.1	+	0	230					NR_015340.1																						CCCTCCCCTCCTCACAGCTTC	0.577000													6	3					0	0	0.001984	0	0
DDX39A	10212	broad.mit.edu	37	19	14521053	14521053	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14521053G>A	ENST00000242776.4	-	6	808	c.707C>T	c.(706-708)cCt>cTt	p.P236L	DDX39A_ENST00000454233.2_Missense_Mutation_p.P236L|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	236	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CCTGCACACAGGCCGGATGTC	0.632000													17	43					0	0	0.004990	0	0
ST14	6768	broad.mit.edu	37	11	130060463	130060463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:130060463G>A	ENST00000278742.5	+	7	1167	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	250	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCCTGCGGGGGGACGCCGAC	0.697000													13	2					0	0	0.003163	0	0
DZIP1	22873	broad.mit.edu	37	13	96293791	96293791	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr13:96293791T>C	ENST00000347108.3	-	3	787	c.355A>G	c.(355-357)Aag>Gag	p.K119E	DZIP1_ENST00000361156.3_Missense_Mutation_p.K119E|DZIP1_ENST00000376829.2_Missense_Mutation_p.K119E|DZIP1_ENST00000361396.2_Missense_Mutation_p.K119E|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	119					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CGGATGAGCTTCAGCAGCACC	0.602000													54	3					0	0	0.003610	0	0
NAA25	80018	broad.mit.edu	37	12	112486128	112486128	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:112486128C>T	ENST00000261745.4	-	16	2096	c.1848G>A	c.(1846-1848)cgG>cgA	p.R616R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	616						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTAACAGCATCCGTTCAGTAC	0.383000													21	17					0	0	0.003954	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470502	74470502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:74470502G>A	ENST00000591885.1	-	12	1967	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.Q473*|RHBDF2_ENST00000313080.4_Nonsense_Mutation_p.Q502*			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	502					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTCATTCTGGACACAGCAG	0.667000													62	35					0	0	0.003610	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	30					0	0	0.000602	0	0
ACRBP	84519	broad.mit.edu	37	12	6753341	6753341	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:6753341A>C	ENST00000229243.2	-	5	999	c.906T>G	c.(904-906)taT>taG	p.Y302*	ACRBP_ENST00000536350.1_Nonsense_Mutation_p.Y302*|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Y269*	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	302						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGTTCTCATCATATATTTCAT	0.468000													36	54					0	0	0.006999	0	0
DOK3	79930	broad.mit.edu	37	5	176931637	176931637	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:176931637G>A	ENST00000501403.2	-	6	1019	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.R280C			Q7L591	DOK3_HUMAN	docking protein 3	280	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGCAGCGACGGCCGGCCTCA	0.701000													11	10					0	0	0.008291	0	0
OR51B5	282763	broad.mit.edu	37	11	5364330	5364330	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5364330A>T	ENST00000300773.2	-	1	479	c.425T>A	c.(424-426)aTt>aAt	p.I142N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGCCCAATCTTCACTAC	0.453000													28	47					0	0	0.007291	0	0
CDK13	8621	broad.mit.edu	37	7	40027485	40027485	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:40027485C>T	ENST00000181839.4	+	2	2104	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CDK13_ENST00000340829.5_Missense_Mutation_p.T500M|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	500			T -> A (in dbSNP:rs3735135).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGGGGAACACGGAAACTAGT	0.468000													12	19					0	0	0.004990	0	0
CCDC89	220388	broad.mit.edu	37	11	85397041	85397041	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:85397041G>A	ENST00000316398.3	-	1	279	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	45						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCTTCCCTCAGACCGTCCAGT	0.552000													22	2					0	0	0.001882	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350741	65350741	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65350741C>T	ENST00000309295.4	+	9	2863	c.2598C>T	c.(2596-2598)acC>acT	p.T866T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	866	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TACTGATGACCCGTAAGACAG	0.562000													18	11					0	0	0.001523	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106069312	106069312	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:106069312C>T	ENST00000357242.5	+	6	1054	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P294S|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P294S|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P294S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	294	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTTAGGCTGCCCAAAGGAGA	0.363000													46	65					0	0	0.003610	0	0
TLE2	7089	broad.mit.edu	37	19	3005473	3005473	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:3005473C>T	ENST00000262953.6	-	17	2120	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	TLE2_ENST00000591529.1_Missense_Mutation_p.E634K|TLE2_ENST00000590536.1_Missense_Mutation_p.E621K|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.E498K|TLE2_ENST00000443826.3_Missense_Mutation_p.E498K|TLE2_ENST00000426948.2_Missense_Mutation_p.E634K|TLE2_ENST00000447365.2_Missense_Mutation_p.E287K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	620					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGGCGGCCCTCCCGCAGGTCC	0.632000													13	4					0	0	0.002450	0	0
NXPH2	11249	broad.mit.edu	37	2	139428742	139428742	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:139428742G>A	ENST00000272641.3	-	2	651	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	182	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GAAAGATTTGGATTCCTTGGT	0.483000													11	11					0	0	0.000978	0	0
PRDM9	56979	broad.mit.edu	37	5	23526583	23526583	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:23526583C>T	ENST00000296682.3	+	11	1568	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	462					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGTCCAAACTCTTGAATAAAA	0.463000										HNSCC(3;0.000094)			8	16					0	0	0.004482	0	0
SNX32	254122	broad.mit.edu	37	11	65618239	65618239	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65618239G>A	ENST00000308342.6	+	6	941	c.516G>A	c.(514-516)aaG>aaA	p.K172K		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	172					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TCCGGGGGAAGAACAGGAAGG	0.592000													8	20					0	0	0.008291	0	0
FLT4	2324	broad.mit.edu	37	5	180041132	180041132	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:180041132C>T	ENST00000261937.6	-	24	3345	c.3267G>A	c.(3265-3267)aaG>aaA	p.K1089K	FLT4_ENST00000393347.3_Silent_p.K1089K|FLT4_ENST00000502649.1_Silent_p.K1089K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1089	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTGTACACCTTGTCGAAGA	0.622000													19	70					0	0	0.008871	0	0
DLC1	10395	broad.mit.edu	37	8	12957029	12957029	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:12957029C>T	ENST00000276297.4	-	9	3226	c.2817G>A	c.(2815-2817)tcG>tcA	p.S939S	DLC1_ENST00000358919.2_Silent_p.S502S|DLC1_ENST00000520226.1_Silent_p.S428S|DLC1_ENST00000512044.2_Silent_p.S536S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	939					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGGAGAGACCGAGTCCAGGG	0.562000													17	26					0	0	0.007413	0	0
AMPD3	272	broad.mit.edu	37	11	10516460	10516460	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:10516460C>T	ENST00000444303.2	+	7	1144	c.672C>T	c.(670-672)ttC>ttT	p.F224F	AMPD3_ENST00000396554.3_Silent_p.F392F	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	383					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGCAGACATTCCACCGCTTTG	0.542000													26	64					0	0	0.005443	0	0
ZNF236	7776	broad.mit.edu	37	18	74587518	74587518	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:74587518G>A	ENST00000253159.8	+	6	930	c.732G>A	c.(730-732)atG>atA	p.M244I	ZNF236_ENST00000320610.9_Missense_Mutation_p.M246I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	244					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGACCCACATGATCAAGCACA	0.493000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	39					0	0	0.002299	0	0
RGPD8	727851	broad.mit.edu	37	2	113147106	113147106	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:113147106C>T	ENST00000302558.3	-	20	3607	c.3416G>A	c.(3415-3417)gGt>gAt	p.G1139D	RGPD8_ENST00000409750.1_Missense_Mutation_p.G999D	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTTGGCATCACCATCAGAGAA	0.453000													71	222					0	0	0.003610	0	0
NUMBL	9253	broad.mit.edu	37	19	41186951	41186951	+	Silent	SNP	G	G	A	rs112715509	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41186951G>A	ENST00000252891.4	-	6	578	c.411C>T	c.(409-411)gtC>gtT	p.V137V	NUMBL_ENST00000598779.1_Silent_p.V96V|NUMBL_ENST00000540131.1_Silent_p.V96V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	137	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.V137V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGGTCTGGTCGACCAGAAGAT	0.532000													92	41					0	0	0.003610	0	0
SAMD4B	55095	broad.mit.edu	37	19	39847636	39847636	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:39847636C>T	ENST00000314471.6	+	5	1138	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R35C|SAMD4B_ENST00000596368.1_Missense_Mutation_p.R35C|SAMD4B_ENST00000594204.1_3'UTR	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	35							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGGTCACCCGTACCCAGGC	0.602000													14	10					0	0	0.002450	0	0
CPD	1362	broad.mit.edu	37	17	28749859	28749859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:28749859C>T	ENST00000225719.4	+	5	1551	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	CPD_ENST00000543464.2_Missense_Mutation_p.S245F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	492	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACATCATCCTCCTACCAGCCA	0.438000													45	71					0	0	0.003610	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210190	65210190	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:65210190G>A	ENST00000247226.7	+	15	3569	c.3261G>A	c.(3259-3261)cgG>cgA	p.R1087R	PLEKHG3_ENST00000471182.2_Silent_p.R676R|PLEKHG3_ENST00000484731.2_Silent_p.R648R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Silent_p.R1143R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1143					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAACCGGCGGGTGATTGTCA	0.667000													29	15					0	0	0.008361	0	0
REN	5972	broad.mit.edu	37	1	204125925	204125925	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:204125925C>T	ENST00000367195.2	-	6	733		c.e6-1		REN_ENST00000272190.8_Splice_Site			P00797	RENI_HUMAN	renin						angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTGGGAATTCCTAAAGGAAAG	0.527000													65	50					0	0	0.003610	0	0
CIC	23152	broad.mit.edu	37	19	42793554	42793554	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:42793554C>T	ENST00000572681.2	+	9	4151	c.4083C>T	c.(4081-4083)gtC>gtT	p.V1361V	CIC_ENST00000575354.2_Silent_p.V452V|CIC_ENST00000160740.3_Silent_p.V452V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATGATGATGTCATTGGTGAGC	0.597000			"""Mis, F, S"""		oligodendroglioma								6	3					0	0	0.001168	0	0
FBN2	2201	broad.mit.edu	37	5	127863631	127863631	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:127863631C>T	ENST00000508053.1	-	10	1440	c.466G>A	c.(466-468)Ggt>Agt	p.G156S	FBN2_ENST00000262464.4_Missense_Mutation_p.G156S|FBN2_ENST00000508989.1_Missense_Mutation_p.G123S			P35556	FBN2_HUMAN	fibrillin 2	156	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGGTCCCACCATTCATGCAT	0.368000													19	35					0	0	0.001523	0	0
TCAIM	285343	broad.mit.edu	37	3	44434432	44434432	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:44434432G>A	ENST00000342649.4	+	6	1085	c.658G>A	c.(658-660)Gat>Aat	p.D220N	TCAIM_ENST00000417237.1_Missense_Mutation_p.D220N	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TCGTTTAAAAGATGAACTGTC	0.333000													40	63					0	0	0.007835	0	0
BTNL8	79908	broad.mit.edu	37	5	180335636	180335636	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:180335636G>A	ENST00000231229.4	+	2	334	c.100G>A	c.(100-102)Gag>Aag	p.E34K	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.E34K|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.E34K	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	34	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGGTGGGGGAGGACGCAGC	0.537000													50	34					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	16975241	16975241	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:16975241A>T	ENST00000377833.4	-	40	6034	c.5969T>A	c.(5968-5970)tTt>tAt	p.F1990Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1990	CUB 14.				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)	GGAGAAGAGAAACACGGGTGC	0.522000													16	20					0	0	0.003163	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392817	26392817	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:26392817C>T	ENST00000356709.4	+	8	1305	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Silent_p.V188V|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Silent_p.V282V|BTN2A2_ENST00000416795.2_Silent_p.V398V	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	398	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGTGGGGGTCTGCAGACACA	0.557000													38	46					0	0	0.005524	0	0
FBXO38	81545	broad.mit.edu	37	5	147781989	147781989	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:147781989C>T	ENST00000340253.5	+	5	673	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	FBXO38_ENST00000296701.6_Missense_Mutation_p.R169C|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169C|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169C|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAAATTTCGTAATCGTAA	0.353000													37	29					0	0	0.004878	0	0
OIT3	170392	broad.mit.edu	37	10	74671531	74671531	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:74671531G>A	ENST00000334011.5	+	5	942	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	242						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCTTGGATCTGAGAAAGGCTA	0.517000													25	30					0	0	0.003954	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304813	25304813	+	RNA	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:25304813G>A	ENST00000549804.2	+	0	206																											CTGTTGGAGTGAGGGAGAGCT	0.522000													11	31					0	0	0.000978	0	0
PGGT1B	5229	broad.mit.edu	37	5	114566678	114566678	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:114566678G>A	ENST00000419445.1	-	6	673	c.653C>T	c.(652-654)tCt>tTt	p.S218F	PGGT1B_ENST00000514178.1_5'UTR|PGGT1B_ENST00000379615.3_Intron	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	218					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTTACCATGAGATTCAAGTCC	0.338000													23	16					0	0	0.001786	0	0
IQSEC2	23096	broad.mit.edu	37	X	53285070	53285070	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:53285070G>A	ENST00000396435.3	-	3	1111	c.911C>T	c.(910-912)gCc>gTc	p.A304V	IQSEC2_ENST00000375368.5_Missense_Mutation_p.A294V|IQSEC2_ENST00000375365.2_Missense_Mutation_p.A99V	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	294					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTTCCTCAGGGCGACACTGGC	0.652000													14	18					0	0	0.002450	0	0
ZNF577	84765	broad.mit.edu	37	19	52376081	52376081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:52376081C>A	ENST00000420592.1	-	6	2318	c.985G>T	c.(985-987)Gag>Tag	p.E329*	ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E388*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E329*|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GAAGGTTTCTCCACCGTCAGT	0.433000													38	106					6.21074e-16	9.73439e-16	0.002852	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660489	77660489	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:77660489G>A	ENST00000296043.6	+	5	2116	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	388					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCCAGCTCGGAGTGACAGT	0.622000													35	2					0	0	0.003271	0	0
KDM8	79831	broad.mit.edu	37	16	27221454	27221454	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:27221454G>A	ENST00000286096.4	+	2	183	c.10G>A	c.(10-12)Gac>Aac	p.D4N	KDM8_ENST00000568965.1_Missense_Mutation_p.D4N|KDM8_ENST00000441782.2_Missense_Mutation_p.D42N|KDM8_ENST00000380948.2_Missense_Mutation_p.D4N	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	4					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GATGGCTGGAGACACCCACTG	0.607000													49	31					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56423635	56423635	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:56423635G>A	ENST00000588751.1	-	5	1572	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	NLRP13_ENST00000342929.3_Silent_p.L516L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	516	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGAACTCGTAGAGAGAATCAA	0.453000													15	39					0	0	0.004007	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139726	142139726	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142139726C>T	ENST00000390374.3	-	0	89																											ACTCACCTGTCCCTAGGAAAC	0.527000													40	45					0	0	0.002852	0	0
GPR142	350383	broad.mit.edu	37	17	72367875	72367875	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:72367875C>T	ENST00000335666.4	+	4	573	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	175						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGTCAGCCTCCTGACCGCAG	0.627000													21	31					0	0	0.001523	0	0
LIME1	54923	broad.mit.edu	37	20	62369602	62369602	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:62369602G>A	ENST00000309546.3	+	5	422	c.335G>A	c.(334-336)gGa>gAa	p.G112E	LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACATCACCGGACCGCAGGCA	0.711000													5	9					0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216017711	216017711	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:216017711G>A	ENST00000366943.2	-	46	9569	c.9183C>T	c.(9181-9183)ctC>ctT	p.L3061L	USH2A_ENST00000307340.3_Silent_p.L3061L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3061	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTCTTGTAGAGCTTATTAT	0.393000										HNSCC(13;0.011)			54	34					0	0	0.003610	0	0
MAZ	4150	broad.mit.edu	37	16	29820898	29820898	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:29820898G>A	ENST00000219782.6	+	5	1423	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	MAZ_ENST00000562337.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568282.1_Silent_p.V40V|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	210	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCACGCGGTGAAGGACCACG	0.687000													12	1					0	0	0.001855	0	0
OR52H1	390067	broad.mit.edu	37	11	5566205	5566205	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5566205G>A	ENST00000322653.4	-	1	574	c.549C>T	c.(547-549)ccC>ccT	p.P183P	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTATGTGTGGGGTATGATGC	0.493000													19	41					0	0	0.008871	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374974	50374974	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:50374974C>T	ENST00000391833.1	-	3	2447		c.e3-1		AKT1S1_ENST00000391832.3_Splice_Site|AKT1S1_ENST00000391835.1_Splice_Site|AKT1S1_ENST00000391831.1_Splice_Site|AKT1S1_ENST00000344175.5_Splice_Site|AKT1S1_ENST00000391834.2_Splice_Site	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)						negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGGCTGCCATCTGAAAGAGAG	0.657000													31	76					0	0	0.002096	0	0
ZNF441	126068	broad.mit.edu	37	19	11891143	11891143	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:11891143C>T	ENST00000357901.4	+	4	606	c.504C>T	c.(502-504)ctC>ctT	p.L168L	ZNF441_ENST00000454339.2_Silent_p.L101L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAGAAACTCTATGATTGTA	0.413000													16	35					0	0	0.004990	0	0
RNF213	57674	broad.mit.edu	37	17	78363957	78363957	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78363957C>T	ENST00000582970.1	+	67	15574	c.15431C>T	c.(15430-15432)cCc>cTc	p.P5144L	RNF213_ENST00000336301.6_Missense_Mutation_p.P3217L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P5193L|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTAAAGAACCCCCAAACCCAA	0.517000													54	75					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11039049	11039049	+	RNA	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:11039049C>T	ENST00000470054.1	-	0	1154									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTCAGAGTCCATCAATCCA	0.383000													14	251					0	0	0.001855	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357117	20357117	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:20357117G>A	ENST00000377252.3	+	4	1331	c.490G>A	c.(490-492)Gat>Aat	p.D164N	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.D115N	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	164						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTGTCCTTCGATTTTCCATT	0.393000													11	20					0	0	0.008291	0	0
XIAP	331	broad.mit.edu	37	X	123022526	123022526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:123022526C>T	ENST00000371199.3	+	3	1234	c.935C>T	c.(934-936)cCc>cTc	p.P312L	XIAP_ENST00000355640.3_Missense_Mutation_p.P312L|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.P312L	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	312					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GATTGGAAGCCCAGTGAAGAC	0.413000									X-linked Lymphoproliferative syndrome				46	68					0	0	0.003610	0	0
ZNF436	80818	broad.mit.edu	37	1	23688758	23688758	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:23688758G>A	ENST00000314011.4	-	4	1253	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Missense_Mutation_p.R373W	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGAGAGCTCCGGCTGAAGCTT	0.463000													46	31					0	0	0.003610	0	0
DDHD2	23259	broad.mit.edu	37	8	38099838	38099838	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:38099838G>A	ENST00000397166.2	+	7	1308	c.783G>A	c.(781-783)caG>caA	p.Q261Q	DDHD2_ENST00000520272.2_Silent_p.Q261Q|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	261					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AAAATCAGCAGATTGGGAGGG	0.388000													6	19					0	0	0.001168	0	0
H6PD	9563	broad.mit.edu	37	1	9307129	9307129	+	Silent	SNP	C	C	T	rs118005430	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:9307129C>T	ENST00000377403.2	+	3	1034	c.732C>T	c.(730-732)acC>acT	p.T244T	H6PD_ENST00000602477.1_Silent_p.T255T	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	244	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAAAGAGACCGTGGATGCTG	0.637000													33	25					0	0	0.002445	0	0
FBXO27	126433	broad.mit.edu	37	19	39517597	39517597	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:39517597T>C	ENST00000292853.4	-	5	740	c.621A>G	c.(619-621)caA>caG	p.Q207Q	FBXO27_ENST00000600828.1_Silent_p.Q206Q|FBXO27_ENST00000509137.2_Silent_p.Q207Q	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	207	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGTCTAGAAGTTGGACGAGGA	0.557000													62	49					0	0	0.003610	0	0
ZNF138	7697	broad.mit.edu	37	7	64292121	64292121	+	Silent	SNP	C	C	T	rs61732253		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:64292121C>T	ENST00000359735.3	+	4	677	c.330C>T	c.(328-330)ttC>ttT	p.F110F	ZNF138_ENST00000440155.2_Silent_p.F141F|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000307355.7_Silent_p.F167F|ZNF138_ENST00000397136.2_Silent_p.F110F|ZNF138_ENST00000437743.1_Silent_p.F135F|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	141					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				ATAAACATTTCAGATGTAAAG	0.284000													20	28					0	0	0.007413	0	0
TFR2	7036	broad.mit.edu	37	7	100226912	100226912	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100226912C>T	ENST00000462107.1	-	11	1641	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TFR2_ENST00000223051.3_Missense_Mutation_p.E452K|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	452					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCACCAGCTCCAGGAGTATA	0.637000													35	33					0	0	0.004878	0	0
ZNF114	163071	broad.mit.edu	37	19	48785633	48785633	+	Silent	SNP	G	G	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:48785633G>C	ENST00000595607.1	+	5	509	c.15G>C	c.(13-15)tcG>tcC	p.S5S	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Silent_p.S5S|ZNF114_ENST00000315849.1_Silent_p.S5S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTTAGGACTCGGTGACCTTCG	0.498000													43	94					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78363958	78363958	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78363958C>T	ENST00000582970.1	+	67	15575	c.15432C>T	c.(15430-15432)ccC>ccT	p.P5144P	RNF213_ENST00000336301.6_Silent_p.P3217P|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.P5193P|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAAGAACCCCCAAACCCAAA	0.517000													52	75					0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61622496	61622496	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:61622496C>T	ENST00000583023.1	+	13	2573	c.2562C>T	c.(2560-2562)ccC>ccT	p.P854P	KCNH6_ENST00000314672.5_Silent_p.P818P|KCNH6_ENST00000456941.2_Silent_p.P765P|KCNH6_ENST00000581784.1_Silent_p.P765P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	854					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCAGAAGCCCATGCCCCAGG	0.637000													36	96					0	0	0.006230	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517501	158517501	+	Missense_Mutation	SNP	C	C	A	rs138226850	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:158517501C>A	ENST00000302617.3	-	1	394	c.395G>T	c.(394-396)tGt>tTt	p.C132F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGTGGATTACAAATGGCTAC	0.468000													57	36					3.21867e-24	5.06545e-24	0.003610	1	0
LRRN2	10446	broad.mit.edu	37	1	204587775	204587775	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:204587775G>A	ENST00000367175.1	-	1	3558	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	LRRN2_ENST00000367177.3_Missense_Mutation_p.A449V|LRRN2_ENST00000367176.3_Missense_Mutation_p.A449V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCGGGTTCGGCCAGTGCCCG	0.637000													20	36					0	0	0.001882	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789055	55789055	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:55789055G>A	ENST00000255631.5	-	4	680	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	HSPBP1_ENST00000587922.1_Silent_p.L124L|HSPBP1_ENST00000376343.3_Silent_p.L124L|HSPBP1_ENST00000433386.2_Silent_p.L124L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	127					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGCAGCTCCAGGGCCCCCTCT	0.667000													6	3					0	0	0.001984	0	0
CNTN2	6900	broad.mit.edu	37	1	205041102	205041102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:205041102G>A	ENST00000331830.4	+	20	2856	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	858	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGGACAAAGAAGCAGCTGC	0.627000													20	24					0	0	0.001882	0	0
PEX11B	8799	broad.mit.edu	37	1	145522633	145522633	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:145522633C>T	ENST00000369306.3	+	4	643	c.494C>T	c.(493-495)cCa>cTa	p.P165L	PEX11B_ENST00000537888.1_Missense_Mutation_p.P151L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	165	Gly-rich.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGAGTCCCAGGAGGAAGT	0.557000													41	116					0	0	0.006999	0	0
FBRS	64319	broad.mit.edu	37	16	30679963	30679963	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:30679963C>T	ENST00000356166.6	+	16	3245	c.2158_splice	c.e16+1	p.F719_splice	FBRS_ENST00000287468.5_Splice_Site_p.F199_splice|FBRS_ENST00000395073.2_Splice_Site_p.F111_splice|FBRS_ENST00000568722.1_Splice_Site_p.F111_splice			Q9HAH7	FBRS_HUMAN	fibrosin	199										ovary(1)	1			Colorectal(24;0.103)			GCCCCACATTCAGTGAGTGCG	0.677000													15	72					0	0	0.004990	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760840	186760840	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:186760840C>T	ENST00000169298.3	+	4	1023	c.349C>T	c.(349-351)Cta>Tta	p.L117L	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.L117L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	117					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GAAGAATTACCTAAGCATGAA	0.527000													15	39					0	0	0.003163	0	0
AKAP9	10142	broad.mit.edu	37	7	91631892	91631892	+	Silent	SNP	A	A	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:91631892A>G	ENST00000359028.2	+	9	2922	c.2697A>G	c.(2695-2697)ttA>ttG	p.L899L	AKAP9_ENST00000358100.2_Silent_p.L899L|AKAP9_ENST00000356239.3_Silent_p.L887L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	899	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAGGAATTAGAGTATAAAA	0.294000			T	BRAF	papillary thyroid								35	45					0	0	0.006230	0	0
TBL3	10607	broad.mit.edu	37	16	2027060	2027060	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:2027060C>T	ENST00000568546.1	+	15	1574	c.1446C>T	c.(1444-1446)atC>atT	p.I482I		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	482					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCAGGACATCAACAGCGTGG	0.637000													27	24					0	0	0.007291	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000													11	22					0	0	0.008291	0	0
C14orf119	55017	broad.mit.edu	37	14	23567135	23567135	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:23567135T>A	ENST00000319074.4	+	2	1124	c.268T>A	c.(268-270)Tct>Act	p.S90T	C14orf119_ENST00000554203.1_Missense_Mutation_p.S90T	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	90										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CCGACCACCTTCTATCTTTGA	0.517000													40	81					0	0	0.002522	0	0
RPA4	29935	broad.mit.edu	37	X	96140065	96140065	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:96140065G>A	ENST00000373040.3	+	1	1159	c.756G>A	c.(754-756)gtG>gtA	p.V252V	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	252					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATCCCACTGTGGATCGGGAGC	0.498000								Other identified genes with known or suspected DNA repair function					47	60					0	0	0.003610	0	0
CNOT6	57472	broad.mit.edu	37	5	179996226	179996226	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:179996226G>A	ENST00000393356.1	+	12	1568	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	CNOT6_ENST00000261951.4_Missense_Mutation_p.E382K			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	382					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTTCCTCTCAGAAGTGAAGAA	0.398000													89	27					0	0	0.003610	0	0
BRS3	680	broad.mit.edu	37	X	135570356	135570356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:135570356C>T	ENST00000370648.3	+	1	311	c.83C>T	c.(82-84)tCt>tTt	p.S28F		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	28					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCTGTGGTTTCTAACGATAAC	0.413000													30	33					0	0	0.002096	0	0
TLR9	54106	broad.mit.edu	37	3	52256090	52256090	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:52256090G>A	ENST00000494383.1	-	5	2701	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	TLR9_ENST00000597542.1_Silent_p.L772L|TLR9_ENST00000360658.2_Silent_p.L748L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.		R -> H (in a colorectal cancer sample; somatic mutation).		defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACTCGCCAGGGGCCCAAAC	0.617000													37	70					0	0	0.006999	0	0
TUBB8	347688	broad.mit.edu	37	10	93374	93374	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:93374G>A	ENST00000447903.2	-	4	1057	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	TUBB8_ENST00000309812.4_Missense_Mutation_p.R320C			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATGGGCATGCGACCCCTGAAA	0.522000													29	33					0	0	0.007291	0	0
PDE6B	5158	broad.mit.edu	37	4	651263	651263	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:651263G>A	ENST00000255622.6	+	10	1424	c.1381G>A	c.(1381-1383)Gac>Aac	p.D461N	PDE6B_ENST00000429163.2_Missense_Mutation_p.D182N|PDE6B_ENST00000496514.1_Missense_Mutation_p.D461N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	461					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTGCGACAGGGACGAGATCCA	0.617000													32	8					0	0	0.002522	0	0
CHD1L	9557	broad.mit.edu	37	1	146759371	146759371	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:146759371C>T	ENST00000369258.4	+	19	2299	c.2279C>T	c.(2278-2280)gCt>gTt	p.A760V	CHD1L_ENST00000361293.5_Missense_Mutation_p.A479V|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.A666V|CHD1L_ENST00000369259.3_Missense_Mutation_p.A556V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	760	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAGCGATCCGCTGAGCCAAGA	0.433000													67	217					0	0	0.003610	0	0
CCDC110	256309	broad.mit.edu	37	4	186380710	186380710	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:186380710G>C	ENST00000307588.3	-	6	1106	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C	CCDC110_ENST00000393540.3_Missense_Mutation_p.S307C|CCDC110_ENST00000510617.1_Missense_Mutation_p.S344C	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	344						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCACTCTTAGATAACTTTTT	0.318000													51	4					0	0	0.003610	0	0
SPRR4	163778	broad.mit.edu	37	1	152944577	152944577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:152944577C>T	ENST00000328051.2	+	2	260	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	71	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCTCAGCCCAGCAAGCCTC	0.522000													35	200					0	0	0.002836	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349041	103349041	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:103349041G>A	ENST00000357421.4	-	2	1080	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	300					transport	integral to membrane|mitochondrial inner membrane											GCTCTTTCCTGGAGTGCGACT	0.498000													34	39					0	0	0.005524	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32194823	32194823	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:32194823C>T	ENST00000346541.3	+	3	660	c.123C>T	c.(121-123)tcC>tcT	p.S41S	CBFA2T2_ENST00000375279.2_Silent_p.S41S|CBFA2T2_ENST00000359606.3_Silent_p.S51S|CBFA2T2_ENST00000397798.2_Silent_p.S12S|CBFA2T2_ENST00000397800.1_Silent_p.S12S|CBFA2T2_ENST00000342704.5_Silent_p.S32S|CBFA2T2_ENST00000344201.3_Silent_p.S12S	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	41	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGATACAGTCCAGATCCTCAC	0.522000													44	47					0	0	0.002852	0	0
CHL1	10752	broad.mit.edu	37	3	423920	423920	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:423920G>A	ENST00000256509.2	+	17	2577	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	CHL1_ENST00000397491.2_Silent_p.R629R|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	629	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAGTGTTCGGCTGACCTGGG	0.408000													40	50					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186120332	186120332	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:186120332G>A	ENST00000271588.4	+	94	14838	c.14608_splice	c.e94-1	p.G4870_splice	HMCN1_ENST00000367492.2_Splice_Site_p.G4870_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4870					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAATAGGTGGGCCCCAG	0.393000													75	57					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179605026	179605026	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:179605026C>T	ENST00000589042.1	-	48	13158	c.12934G>A	c.(12934-12936)Gaa>Aaa	p.E4312K	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4074K|TTN_ENST00000460472.2_Missense_Mutation_p.E3949K|TTN_ENST00000591111.1_Missense_Mutation_p.E3995K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4141K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3995	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3949K(1)|p.E4141K(1)|p.E4074K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGCATTTTCCAGTGGATTT	0.433000													20	57					0	0	0.002299	0	0
GPNMB	10457	broad.mit.edu	37	7	23293816	23293816	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:23293816T>C	ENST00000258733.4	+	3	547	c.252T>C	c.(250-252)agT>agC	p.S84S	GPNMB_ENST00000409458.3_Silent_p.S84S|GPNMB_ENST00000453162.2_Silent_p.S84S|GPNMB_ENST00000381990.2_Silent_p.S84S|GPNMB_ENST00000539136.1_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	84					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TCCTGACCAGTGACTCACCAG	0.468000													62	79					0	0	0.003610	0	0
TPM1	7168	broad.mit.edu	37	15	63349227	63349227	+	Missense_Mutation	SNP	T	T	G	rs104894504		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:63349227T>G	ENST00000357980.4	+	4	489	c.410T>G	c.(409-411)gTt>gGt	p.V137G	TPM1_ENST00000317516.7_Missense_Mutation_p.V59G|TPM1_ENST00000288398.6_Missense_Mutation_p.V95G|TPM1_ENST00000403994.3_Missense_Mutation_p.V95G|TPM1_ENST00000404484.4_Missense_Mutation_p.V59G|TPM1_ENST00000334895.5_Missense_Mutation_p.V59G|TPM1_ENST00000267996.7_Missense_Mutation_p.V95G|TPM1_ENST00000560959.1_Missense_Mutation_p.V59G|TPM1_ENST00000559281.1_Missense_Mutation_p.V59G|TPM1_ENST00000358278.3_Missense_Mutation_p.V95G|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.V95G|TPM1_ENST00000559397.1_Missense_Mutation_p.V95G			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	95					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						ATCCAGCTGGTTGAGGAAGAG	0.532000													40	82					0	0	0.005524	0	0
TULP1	7287	broad.mit.edu	37	6	35471586	35471586	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:35471586G>A	ENST00000229771.6	-	12	1231	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N	TULP1_ENST00000322263.4_Silent_p.N331N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	384					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGTTCTGCCCGTTGTCAAAGA	0.617000													10	13					0	0	0.006214	0	0
TTC18	118491	broad.mit.edu	37	10	75059363	75059363	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:75059363C>T	ENST00000355577.3	-	0	1642				TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Silent_p.K509K|TTC18_ENST00000401621.2_Splice_Site_p.K509_splice|TTC18_ENST00000394865.1_Splice_Site_p.K509_splice			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18								binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGGCACTTGCCTTCTGAGCTC	0.393000													13	20					0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57335018	57335018	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:57335018C>T	ENST00000326441.9	-	5	787	c.424G>A	c.(424-426)Gac>Aac	p.D142N	ZIM2_ENST00000601070.1_Missense_Mutation_p.D16N|PEG3_ENST00000598410.1_Missense_Mutation_p.D16N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D16N|PEG3_ENST00000593695.1_Missense_Mutation_p.D16N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D16N|PEG3_ENST00000423103.2_Missense_Mutation_p.D142N|ZIM2_ENST00000593931.1_Missense_Mutation_p.D16N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D16N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D16N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	142					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCATGTCGTCGTCGCTGGTC	0.552000													37	34					0	0	0.006230	0	0
DPPA5	340168	broad.mit.edu	37	6	74063756	74063756	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:74063756C>T	ENST00000370370.3	-	2	182		c.e2-1			NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5						multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CCGTCCGGGCCTGTTGGGGAA	0.607000													12	36					0	0	0.001368	0	0
ZNF516	9658	broad.mit.edu	37	18	74154768	74154768	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:74154768G>A	ENST00000443185.2	-	3	560	c.243C>T	c.(241-243)atC>atT	p.I81I	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGTGGCTCCGGATGTGAATCT	0.672000													4	4					0	0	0.000248	0	0
NEB	4703	broad.mit.edu	37	2	152348943	152348943	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:152348943G>A	ENST00000427231.2	-	177	25033	c.24831C>T	c.(24829-24831)ccC>ccT	p.P8277P	RIF1_ENST00000457745.1_Intron|NEB_ENST00000397345.3_Silent_p.P8277P|NEB_ENST00000603639.1_Silent_p.P8277P|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000409198.1_Silent_p.P6421P|NEB_ENST00000604864.1_Silent_p.P8277P|NEB_ENST00000397336.2_Silent_p.P252P|NEB_ENST00000172853.10_Silent_p.P6421P|NEB_ENST00000509223.2_Silent_p.P190P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6587					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTCATCTCGGGGGTATCCA	0.483000													17	28					0	0	0.001523	0	0
RGL4	266747	broad.mit.edu	37	22	24034591	24034591	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:24034591G>A	ENST00000290691.5	+	2	1419	c.249G>A	c.(247-249)cgG>cgA	p.R83R	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	83					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCCGCAACGGTCATCTTTCC	0.547000													76	90					0	0	0.003610	0	0
NOX3	50508	broad.mit.edu	37	6	155732481	155732481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:155732481C>T	ENST00000159060.2	-	11	1424	c.1322G>A	c.(1321-1323)tGg>tAg	p.W441*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	441							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGGCAAATCCAGTAGAAATA	0.408000													24	1					0	0	0.003954	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596225	173596225	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:173596225C>T	ENST00000333279.2	-	4	630	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	206										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TAAGGAGTTTCCCTGATCCCT	0.353000													73	63					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220346120	220346120	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:220346120C>T	ENST00000312358.7	+	27	5596	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1822	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GACCACATTCCTGAGCCTGAG	0.582000													12	36					0	0	0.001855	0	0
PCNT	5116	broad.mit.edu	37	21	47860047	47860047	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:47860047C>T	ENST00000359568.5	+	42	9432	c.9325C>T	c.(9325-9327)Ctg>Ttg	p.L3109L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3109	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACAGAGTTCCCTGAGGCGCCC	0.587000													61	26					0	0	0.003610	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249886	79249886	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79249886G>A	ENST00000374759.3	-	8	1178	c.795C>T	c.(793-795)ccC>ccT	p.P265P	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.P265P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	265					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGTTGGAGGGAAAGTGCA	0.587000													31	28					0	0	0.007291	0	0
INADL	10207	broad.mit.edu	37	1	62349916	62349916	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:62349916C>T	ENST00000371158.2	+	22	3081	c.2967C>T	c.(2965-2967)atC>atT	p.I989I	INADL_ENST00000316485.6_Silent_p.I989I	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	989					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGGCATGATCCCGAATGATG	0.473000													67	40					0	0	0.003610	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190968	131190968	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:131190968G>A	ENST00000337057.3	-	15	2523	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P781L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P711L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P711L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P711L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P711L|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.P159L|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	781					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)		TGCCGGGCGGGGTTCTTCCTC	0.582000													70	10					0	0	0.003610	0	0
CMA1	1215	broad.mit.edu	37	14	24975720	24975720	+	Silent	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:24975720T>C	ENST00000250378.3	-	3	329	c.300A>G	c.(298-300)ccA>ccG	p.P100P	CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	100	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGTTATATTTTGGATGACGGA	0.428000													55	32					0	0	0.003610	0	0
FLT4	2324	broad.mit.edu	37	5	180041131	180041131	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:180041131C>T	ENST00000261937.6	-	24	3346	c.3268G>A	c.(3268-3270)Gtg>Atg	p.V1090M	FLT4_ENST00000393347.3_Missense_Mutation_p.V1090M|FLT4_ENST00000502649.1_Missense_Mutation_p.V1090M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1090	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGTGTACACCTTGTCGAAG	0.622000													17	72					0	0	0.008871	0	0
STAM	8027	broad.mit.edu	37	10	17737150	17737150	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:17737150G>A	ENST00000377524.3	+	7	853	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	STAM_ENST00000540523.1_Missense_Mutation_p.R102Q	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	213	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATGAAGGCCGAAAAGTTCGT	0.393000													20	23					0	0	0.007413	0	0
DNAH11	8701	broad.mit.edu	37	7	21640511	21640511	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:21640511C>T	ENST00000328843.6	+	16	3249	c.3218C>T	c.(3217-3219)cCc>cTc	p.P1073L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1073L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1073	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGAAATTCCCGAACAACCA	0.403000									Kartagener syndrome				56	54					0	0	0.003610	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733192	52733192	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:52733192C>T	ENST00000360540.5	-	7	1199	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCCCCTTGGCCTGCATCTCA	0.408000													5	68					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	186106694	186106694	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:186106694C>T	ENST00000271588.4	+	88	13876	c.13647C>T	c.(13645-13647)atC>atT	p.I4549I	HMCN1_ENST00000367492.2_Silent_p.I4549I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4549	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGGCATCCAAAAGAGGA	0.473000													28	24					0	0	0.004656	0	0
ARRB2	409	broad.mit.edu	37	17	4621248	4621248	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:4621248C>T	ENST00000269260.2	+	8	784	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ARRB2_ENST00000412477.3_Missense_Mutation_p.S205L|ARRB2_ENST00000346341.2_Missense_Mutation_p.S169L|ARRB2_ENST00000575877.1_Missense_Mutation_p.S184L|ARRB2_ENST00000381488.6_Missense_Mutation_p.S169L|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	184					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCAGCCTTCAGCCGAAACC	0.632000													13	13					0	0	0.003163	0	0
CNGB1	1258	broad.mit.edu	37	16	58001115	58001115	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:58001115C>T	ENST00000564448.1	-	2	136	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CNGB1_ENST00000311183.4_Missense_Mutation_p.E26K|CNGB1_ENST00000251102.8_Missense_Mutation_p.E26K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	26	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTTCCACTTCCTCTTCCTCC	0.612000													31	30					0	0	0.001786	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182850	140182850	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140182850G>A	ENST00000522353.2	+	1	2068	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	PCDHA3_ENST00000532566.2_Missense_Mutation_p.E690K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCCCGGAAGCTGCACT	0.637000													36	23					0	0	0.005524	0	0
KAT6B	23522	broad.mit.edu	37	10	76719776	76719776	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:76719776G>A	ENST00000287239.4	+	4	1159	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	KAT6B_ENST00000372711.1_Missense_Mutation_p.E224K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E224K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E224K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E224K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	224					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGGGACTAAAGAATCAAATCG	0.373000													26	34					0	0	0.002445	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923792	166923792	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:166923792G>A	ENST00000510118.1	-	6	767	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.H118Y|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H29Y|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H126Y|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H29Y|RPS6KA2_ENST00000366863.2_5'UTR			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	118	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGAAGGGGTGATTCACTTCT	0.413000													28	5					0	0	0.001786	0	0
SEPT9	10801	broad.mit.edu	37	17	75471848	75471848	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:75471848G>A	ENST00000427180.1	+	1	524	c.248G>A	c.(247-249)gGg>gAg	p.G83E	SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592420.1_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCTGGACACGGGCCTGGAAGG	0.672000													30	33					0	0	0.001786	0	0
AIM1	202	broad.mit.edu	37	6	106968006	106968006	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:106968006A>T	ENST00000369066.3	+	2	2186	c.1699A>T	c.(1699-1701)Atc>Ttc	p.I567F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	567							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTCCCAGGTCATCCCAGAGAG	0.547000													26	2					0	0	0.003954	0	0
MRTO4	51154	broad.mit.edu	37	1	19582531	19582531	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:19582531C>T	ENST00000330263.4	+	3	474	c.177C>T	c.(175-177)gcC>gcT	p.A59A	MRTO4_ENST00000493700.1_3'UTR	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	59					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGAACGCCTGGAAGCACA	0.572000													20	17					0	0	0.001882	0	0
MSANTD1	345222	broad.mit.edu	37	4	3255159	3255159	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:3255159C>T	ENST00000438480.2	+	2	2293	c.546C>T	c.(544-546)ttC>ttT	p.F182F	MSANTD1_ENST00000507492.1_Silent_p.F169F|MSANTD1_ENST00000510580.1_Silent_p.F182F	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	182										endometrium(1)|lung(2)	3						AAGGCCGCTTCGAGGATGATC	0.622000													113	15					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21640510	21640510	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:21640510C>T	ENST00000328843.6	+	16	3248	c.3217C>T	c.(3217-3219)Ccc>Tcc	p.P1073S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1073S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1073	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAAGAAATTCCCGAACAACC	0.408000									Kartagener syndrome				55	56					0	0	0.003610	0	0
EXOSC5	56915	broad.mit.edu	37	19	41898847	41898847	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41898847C>T	ENST00000221233.4	-	2	337	c.187G>A	c.(187-189)Gag>Aag	p.E63K	EXOSC5_ENST00000596905.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	63					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCTTCACCTCGGCCGGCCCG	0.602000													10	49					0	0	0.008291	0	0
THOC2	57187	broad.mit.edu	37	X	122778637	122778637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:122778637G>A	ENST00000245838.8	-	14	1583	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	THOC2_ENST00000491737.1_Nonsense_Mutation_p.Q403*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.Q518*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	518					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACCTATGCTGATATGGAAAT	0.318000													23	34					0	0	0.003954	0	0
NAA25	80018	broad.mit.edu	37	12	112486129	112486129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:112486129C>T	ENST00000261745.4	-	16	2095	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	616						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAACAGCATCCGTTCAGTACG	0.383000													22	16					0	0	0.004656	0	0
TAF13	6884	broad.mit.edu	37	1	109607282	109607282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:109607282G>A	ENST00000338366.5	-	4	292	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	80					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACTTGTACTCGACCTTGTCTT	0.328000													127	223					0	0	0.003610	0	0
CEACAM1	634	broad.mit.edu	37	19	43025622	43025622	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:43025622C>T	ENST00000161559.6	-	4	889	c.755G>A	c.(754-756)gGg>gAg	p.G252E	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.G252E|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G252E|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G252E|CEACAM1_ENST00000352591.5_Missense_Mutation_p.G252E|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G212E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G252E	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	252	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GAGGTTTGCCCCTGGACGGTA	0.532000													24	24					0	0	0.004656	0	0
MSANTD3	91283	broad.mit.edu	37	9	103204520	103204520	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:103204520C>T	ENST00000395067.2	+	2	571	c.300C>T	c.(298-300)ctC>ctT	p.L100L	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Silent_p.L100L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						TCAGCCCTCTCCTGAGTACCC	0.557000													15	10					0	0	0.004007	0	0
ASPM	259266	broad.mit.edu	37	1	197069625	197069625	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:197069625C>T	ENST00000367409.4	-	18	9012	c.8756G>A	c.(8755-8757)aGa>aAa	p.R2919K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2919	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCCTTTACTTCTAGCTTGAAT	0.299000													22	24					0	0	0.002780	0	0
TNR	7143	broad.mit.edu	37	1	175360466	175360466	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:175360466C>T	ENST00000367674.1	-	7	2173	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	TNR_ENST00000263525.2_Missense_Mutation_p.E489K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	489	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGGGCCTGTTCTTTCAGAGCC	0.562000													41	85					0	0	0.003610	0	0
DHX8	1659	broad.mit.edu	37	17	41577465	41577465	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:41577465C>T	ENST00000262415.3	+	11	1612	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	DHX8_ENST00000540306.1_Missense_Mutation_p.P514S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	514						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGACCCTCTGCCTGATGGTAG	0.512000													60	92					0	0	0.003610	0	0
ASS1	445	broad.mit.edu	37	9	133355773	133355773	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:133355773G>A	ENST00000372394.1	+	12	1256	c.773_splice	c.e12-1	p.G259_splice	ASS1_ENST00000372393.3_Splice_Site_p.G259_splice|ASS1_ENST00000352480.5_Splice_Site_p.G259_splice|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	259					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TTCCCACAGGGGCAAGCATGG	0.622000													16	18					0	0	0.004990	0	0
KRT71	112802	broad.mit.edu	37	12	52942550	52942550	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:52942550C>T	ENST00000267119.5	-	4	817	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	250	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCCTGCAGTTCCACCTTATTG	0.542000													16	56					0	0	0.006122	0	0
DNAH10	196385	broad.mit.edu	37	12	124330288	124330288	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:124330288C>T	ENST00000409039.3	+	30	5173	c.5148C>T	c.(5146-5148)caC>caT	p.H1716H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1716	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAAATGCACCGGCAGATCG	0.512000													15	17					0	0	0.004007	0	0
KCNV1	27012	broad.mit.edu	37	8	110984910	110984910	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:110984910G>A	ENST00000524391.1	-	3	1600	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	KCNV1_ENST00000297404.1_Missense_Mutation_p.P190S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	190						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CGAACAGTGGGACAAGGTCCT	0.488000													27	36					0	0	0.003954	0	0
KCNS3	3790	broad.mit.edu	37	2	18113307	18113307	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:18113307C>T	ENST00000403915.1	+	3	1483	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	KCNS3_ENST00000304101.4_Silent_p.S344S|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	344					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTACTCCGTGGAGAAAG	0.537000													49	30					0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156811287	156811287	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156811287G>A	ENST00000368195.3	-	21	3957	c.3561C>T	c.(3559-3561)acC>acT	p.T1187T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1187	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTCTGCCAGGGTCACAATCT	0.612000													213	62					0	0	0.003610	0	0
NOL9	79707	broad.mit.edu	37	1	6605240	6605240	+	Splice_Site	SNP	T	T	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:6605240T>C	ENST00000377705.5	-	4	777	c.744_splice	c.e4-1	p.S249_splice		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	249					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGTTGGACTCTGAAATCAA	0.363000													18	57					0	0	0.008871	0	0
CHMP6	79643	broad.mit.edu	37	17	78972194	78972194	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78972194C>T	ENST00000325167.5	+	7	602	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	175	Interaction with VPS4A.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGTTCCCTCCGAGCCCCTT	0.522000													43	100					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100682642	100682642	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100682642G>A	ENST00000306151.4	+	3	8009	c.7945G>A	c.(7945-7947)Gag>Aag	p.E2649K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2649	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.463000													136	9					0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	96962851	96962851	+	Silent	SNP	T	T	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:96962851T>A	ENST00000389672.5	+	5	1364	c.1326T>A	c.(1324-1326)atT>atA	p.I442I	EPHA6_ENST00000470610.2_Silent_p.I442I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	347	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGCCCTTATTTTGGAATGGA	0.408000													11	10					0	0	0.000978	0	0
KAL1	3730	broad.mit.edu	37	X	8503633	8503633	+	Splice_Site	SNP	G	G	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:8503633G>T	ENST00000262648.3	-	12	1990	c.1842_splice	c.e12+1	p.S614_splice	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	614	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGACCTACGGAAGGCAGGAT	0.498000													10	32					1.5842e-08	2.4729e-08	0.001855	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94855338	94855338	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:94855338G>A	ENST00000289495.5	+	6	2172	c.1956G>A	c.(1954-1956)atG>atA	p.M652I	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.M652I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M652I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M674I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M652I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M652I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	652	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGCGACATGGCCATTGAAG	0.483000										HNSCC(28;0.073)			31	37					0	0	0.001786	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:4479941G>A	ENST00000237837.1	-	3	469	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000													52	59					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138169234	138169234	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:138169234G>C	ENST00000409968.1	+	14	2929	c.2751G>C	c.(2749-2751)gaG>gaC	p.E917D	THSD7B_ENST00000272643.3_Missense_Mutation_p.E917D|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E886D					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCTAGTGGAGACAGAACTAT	0.433000													23	61					0	0	0.002299	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969285	22969285	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:22969285G>A	ENST00000313077.7	+	22	2636	c.2511G>A	c.(2509-2511)ggG>ggA	p.G837G	CYFIP1_ENST00000560848.1_Silent_p.G837G|CYFIP1_ENST00000435939.2_Silent_p.G406G	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	837					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CGCCCTACGGGAGGATCACCC	0.617000													16	58					0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	137814554	137814554	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:137814554G>A	ENST00000409968.1	+	3	882	c.704G>A	c.(703-705)gGg>gAg	p.G235E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G235E|THSD7B_ENST00000543459.1_Missense_Mutation_p.G94E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G204E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCTCTTGGGGAAGAGGAA	0.463000													54	120					0	0	0.003610	0	0
LIMD1	8994	broad.mit.edu	37	3	45637071	45637071	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:45637071C>T	ENST00000273317.4	+	1	721	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.L234L	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	234					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACAGCTCTCCCTGAGCTCCAG	0.632000													34	37					0	0	0.005524	0	0
JAK2	3717	broad.mit.edu	37	9	5123074	5123074	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:5123074C>T	ENST00000381652.3	+	23	3624	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	JAK2_ENST00000539801.1_Silent_p.L1044L|JAK2_ENST00000544510.1_Silent_p.L895L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1044	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAGTGGTTCTGTATGAACT	0.358000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				21	17					0	0	0.001882	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730571	140730571	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140730571C>T	ENST00000523390.1	+	1	744	c.744C>T	c.(742-744)ctC>ctT	p.L248L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTAGCCTCCAAGAAAACG	0.552000													42	26					0	0	0.002522	0	0
TOPORS	10210	broad.mit.edu	37	9	32541581	32541581	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:32541581G>A	ENST00000360538.2	-	3	3058	c.2942C>T	c.(2941-2943)aCt>aTt	p.T981I	TOPORS_ENST00000379858.1_Missense_Mutation_p.T916I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	981					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTATCTACAGTTTTGTTGGC	0.393000													32	55					0	0	0.002445	0	0
FAM50B	26240	broad.mit.edu	37	6	3850385	3850385	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:3850385A>T	ENST00000380274.1	+	1	766	c.340A>T	c.(340-342)Aag>Tag	p.K114*	FAM50B_ENST00000380272.3_Nonsense_Mutation_p.K114*			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	114						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				gcGCGAGCGCAAGCGTAAGAT	0.701000													15	16					0	0	0.004990	0	0
DCAF15	90379	broad.mit.edu	37	19	14070065	14070065	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14070065C>T	ENST00000254337.6	+	7	1014	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	331										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCGCCGGGCCAAAGAGGCCA	0.687000													13	33					0	0	0.002450	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280705	105280705	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:105280705C>T	ENST00000327674.4	-	1	680	c.345G>A	c.(343-345)ctG>ctA	p.L115L	SERPINA7_ENST00000372563.1_Silent_p.L115L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	115					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGAACAGATCAGATGCTGGA	0.478000													59	77					0	0	0.003610	0	0
PROC	5624	broad.mit.edu	37	2	128186241	128186241	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:128186241C>T	ENST00000453608.2	+	8	1278	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PROC_ENST00000234071.3_Missense_Mutation_p.P369S|PROC_ENST00000422777.3_Missense_Mutation_p.P369S|PROC_ENST00000409048.1_Missense_Mutation_p.P403S			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	369	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCCCGTGGTCCCGCACAATGA	0.612000													37	94					0	0	0.004289	0	0
ZNF845	91664	broad.mit.edu	37	19	53855609	53855609	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53855609C>G	ENST00000458035.1	+	4	1798	c.1681C>G	c.(1681-1683)Cgt>Ggt	p.R561G	ZNF845_ENST00000595091.1_Missense_Mutation_p.R561G	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CAAAGCCTTTCGTGGGCAGTC	0.418000													20	9					0	0	0.008871	0	0
LPIN1	23175	broad.mit.edu	37	2	11919762	11919762	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:11919762G>A	ENST00000256720.2	+	6	933	c.840G>A	c.(838-840)caG>caA	p.Q280Q	LPIN1_ENST00000396098.1_Silent_p.Q322Q|LPIN1_ENST00000396097.1_Silent_p.Q10Q|LPIN1_ENST00000425416.2_Silent_p.Q286Q|LPIN1_ENST00000396099.1_Silent_p.Q322Q|LPIN1_ENST00000449576.2_Silent_p.Q365Q	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	280					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGCTGCCGCAGGCTGCTAAGG	0.463000											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	0.006122	0	0
MDGA1	266727	broad.mit.edu	37	6	37631839	37631839	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:37631839C>T	ENST00000434837.2	-	2	1289	c.111G>A	c.(109-111)gtG>gtA	p.V37V	MDGA1_ENST00000297153.7_Silent_p.V37V|MDGA1_ENST00000505425.1_Silent_p.V37V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	37	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCTCTTTCACCACACATGCCT	0.597000													46	69					0	0	0.003610	0	0
CHMP6	79643	broad.mit.edu	37	17	78972195	78972195	+	Silent	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78972195C>T	ENST00000325167.5	+	7	603	c.525C>T	c.(523-525)tcC>tcT	p.S175S		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	175	Interaction with VPS4A.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTTCCCTCCGAGCCCCTTC	0.522000													43	101					0	0	0.003610	0	0
HDAC9	9734	broad.mit.edu	37	7	18875586	18875586	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:18875586C>T	ENST00000406451.3	+	21	2791	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	HDAC9_ENST00000441542.2_Missense_Mutation_p.P884S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P840S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P881S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	881	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTTGATCCTCCCATGGGAGA	0.448000													5	4					0	0	0.000602	0	0
FHL5	9457	broad.mit.edu	37	6	97063574	97063574	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:97063574G>A	ENST00000326771.2	+	7	1161	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	FHL5_ENST00000541107.1_Missense_Mutation_p.G261S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	261	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCCTTGGTGGGTAAAGGCTT	0.483000													33	5					0	0	0.002445	0	0
MICAL1	64780	broad.mit.edu	37	6	109770953	109770953	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:109770953G>A	ENST00000368952.4	-	10	1688	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	MICAL1_ENST00000358807.3_Silent_p.S447S|MICAL1_ENST00000358577.3_Silent_p.S361S			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	447					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGTTTTCTGGGGATGTCTGTG	0.612000													39	8					0	0	0.008740	0	0
ZNF257	113835	broad.mit.edu	37	19	22272154	22272154	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:22272154G>A	ENST00000594947.1	+	4	1746	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCGTACATAAGAGAATTCATG	0.358000													4	9					0	0	0.000248	0	0
PPTC7	160760	broad.mit.edu	37	12	110989648	110989648	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:110989648C>A	ENST00000354300.3	-	2	637	c.349G>T	c.(349-351)Gga>Tga	p.G117*		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	117	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GTGAGAATTCCAATGGGATTA	0.433000													49	29					7.22619e-39	1.14192e-38	0.003610	1	0
TLK1	9874	broad.mit.edu	37	2	171863068	171863068	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:171863068G>A	ENST00000442919.2	-	17	2155	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	TLK1_ENST00000521943.1_Missense_Mutation_p.R514W|TLK1_ENST00000431350.2_Missense_Mutation_p.R562W|TLK1_ENST00000434911.2_Missense_Mutation_p.R466W|TLK1_ENST00000360843.3_Missense_Mutation_p.R583W	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	562	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACAATAGACCGAGCTTCTTTC	0.348000													66	37					0	0	0.003610	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578482	42578482	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:42578482G>A	ENST00000378669.1	-	4	1051	c.222C>T	c.(220-222)ccC>ccT	p.P74P	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Silent_p.P74P			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	74					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						TCAGGTAGACGGGCACACCAT	0.443000													12	29					0	0	0.002450	0	0
POLG2	11232	broad.mit.edu	37	17	62474035	62474035	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:62474035G>A	ENST00000539111.2	-	8	1430	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	455					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTGCTTCTCAGATGTATTAAT	0.303000													24	42					0	0	0.003954	0	0
ACAA1	30	broad.mit.edu	37	3	38169314	38169314	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:38169314C>T	ENST00000333167.8	-	7	761	c.589G>A	c.(589-591)Gag>Aag	p.E197K	ACAA1_ENST00000301810.7_Missense_Mutation_p.E164K|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.E156K|ACAA1_ENST00000544624.1_Missense_Mutation_p.E45K	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	197					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCCTGCTTCTCCCGTGAAATG	0.502000													38	52					0	0	0.006999	0	0
ZNF395	55893	broad.mit.edu	37	8	28210825	28210825	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:28210825G>A	ENST00000344423.5	-	5	815	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ZNF395_ENST00000523095.1_Silent_p.S228S|ZNF395_ENST00000523202.1_Silent_p.S228S	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	228					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCGAGGGGGTGGAGACACCAC	0.622000													14	5					0	0	0.003163	0	0
ALDH2	217	broad.mit.edu	37	12	112237856	112237856	+	Silent	SNP	G	G	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:112237856G>A	ENST00000261733.2	+	11	1456	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	ALDH2_ENST00000416293.3_Silent_p.A418A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCCTCCAGGCGGGCACTGTGT	0.567000			T	HMGA2	leiomyoma								7	8					0	0	0.001984	0	0
CADM3	57863	broad.mit.edu	37	1	159166744	159166744	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:159166744delT	ENST00000368125.4	+	7	1003	c.846delT	c.(844-846)agfs	p.S282fs	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Frame_Shift_Del_p.S316fs|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	282	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCCAGGAGAGTGCCCTGATCT	0.572													27	261	---	---	---	---					
LGR6	59352	broad.mit.edu	37	1	202269987	202269989	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:202269987_202269989delAAC	ENST00000367278.3	+	8	885_887	c.796_798delAAC	c.(796-798)del	p.N268del	LGR6_ENST00000439764.2_In_Frame_Del_p.N129del|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_In_Frame_Del_p.N216del	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	268						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGGTTCCATAACAACAACATCA	0.493													36	211	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													3	6	---	---	---	---					
PCDHB6	56130	broad.mit.edu	37	5	140530730	140530730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140530730delG	ENST00000231136.1	+	1	892	c.892delG	c.(892-894)aafs	p.E298fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.E162fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		298	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATCACAGGAGAAATTCGGCT	0.448													34	70	---	---	---	---					
IREB2	3658	broad.mit.edu	37	15	78765610	78765610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:78765610delG	ENST00000258886.8	+	8	1059	c.910delG	c.(910-912)ttfs	p.V304fs	IREB2_ENST00000560440.1_Frame_Shift_Del_p.V304fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	304							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AACAGAAGCAGTTATGCTTGG	0.378													56	53	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													2	4	---	---	---	---					
CYP2B6	1555	broad.mit.edu	37	19	41510233	41510233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41510233delG	ENST00000324071.4	+	3	373	c.366delG	c.(364-366)aafs	p.K122fs	CYP2B6_ENST00000330446.5_Frame_Shift_Del_p.K82fs|CYP2B6_ENST00000593831.1_Frame_Shift_Del_p.K46fs|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	122					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGCTGGAAGGTGCTTCGGC	0.552													11	20	---	---	---	---