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
ULK1	8408	broad.mit.edu	37	12	132393503	132393503	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:132393503C>T	ENST00000321867.4	+	7	902	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	184	Protein kinase.				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)		CTCTGCGGCTCCCCCATGTAC	0.672000													26	102					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101307046	101307046	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:101307046C>T	ENST00000369143.2	-	4	565	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ASCC3_ENST00000522650.1_Intron|ASCC3_ENST00000369162.2_Intron	NM_022091.3	NP_071374.1	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		tcttttccatccagcctcctc	0.408000													24	60					0	0	1	0	0
UBE2M	9040	broad.mit.edu	37	19	59067742	59067742	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:59067742C>T	ENST00000253023.3	-	5	930	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	118					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTTCCAGTCCTCTCTGTGG	0.542000													9	44					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085134	64085134	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:64085134G>T	ENST00000295902.6	-	8	2713	c.2128C>A	c.(2128-2130)Cgg>Agg	p.R710R	PRICKLE2_ENST00000564377.1_Silent_p.R766R|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	710	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTTTTAACCGGGAGATGGCC	0.637000													19	64					2.37509e-13	2.74473e-13	1	1	0
TLDC1	57707	broad.mit.edu	37	16	84529448	84529448	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:84529448C>G	ENST00000343629.6	-	3	407	c.225G>C	c.(223-225)ctG>ctC	p.L75L	RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Silent_p.L48L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CCTTCCCTGTCAGGTCGACCC	0.562000													30	55					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120867	94120867	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:94120867C>G	ENST00000369303.4	-	3	368	c.184G>C	c.(184-186)Gat>Cat	p.D62H	EPHA7_ENST00000369297.1_Missense_Mutation_p.D62H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	62						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGTTCTCATCCAAACCACTA	0.403000													13	101					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240151	21240151	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21240151A>T	ENST00000261560.5	+	5	1218	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCCTACAAATGTGAAGAA	0.403000													41	127					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70980726	70980726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70980726G>A	ENST00000276594.2	-	3	943	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCTGGAAGTTGAAGGGAGTCT	0.408000													22	74					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922531	31922531	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:31922531G>A	ENST00000375429.3	-	7	769	c.543C>T	c.(541-543)tcC>tcT	p.S181S	NELFE_ENST00000444811.2_Silent_p.S151S|NELFE_ENST00000375425.5_Silent_p.S188S	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		TTCGGGGAGGGGAGGCTGAGG	0.647000													23	76					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	80					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853480	143853480	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:143853480G>A	ENST00000507359.2	+	3	2181	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	KCTD16_ENST00000512467.1_Missense_Mutation_p.D364N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	364						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D364Y(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCGGAAAAGCGACTTACTCCG	0.522000													30	59					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058303	11058303	+	RNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058303G>T	ENST00000470054.1	-	0	344									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)		TGGCTCCAAAGTGCTTACAAA	0.388000													11	343					0.00010058	0.000105413	1	1	0
FAT1	2195	broad.mit.edu	37	4	187628173	187628173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:187628173G>A	ENST00000441802.2	-	2	3018	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	937	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCCTCTCGGACTTTCACA	0.468000										HNSCC(5;0.00058)			44	307					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37816726	37816726	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:37816726A>T	ENST00000336308.5	+	11	1119	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	STARD3_ENST00000544210.2_Missense_Mutation_p.I301F|STARD3_ENST00000580611.1_Missense_Mutation_p.I275F|STARD3_ENST00000394250.4_Missense_Mutation_p.I283F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	301	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGGAGGTGATCCTGCAGCC	0.647000													19	49					0	0	1	0	0
PPP1R2	5504	broad.mit.edu	37	3	195245854	195245854	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:195245854C>T	ENST00000328432.3	-	5	892	c.532G>A	c.(532-534)Gca>Aca	p.A178T		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	178					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCTCCATCTGCAGTCTCTAAC	0.363000													56	179					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1475730	1475730	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:1475730C>T	ENST00000308219.9	+	16	1946	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	BRSK2_ENST00000382179.1_Silent_p.S566S|BRSK2_ENST00000544817.1_Silent_p.S215S|BRSK2_ENST00000531197.1_Silent_p.S520S|BRSK2_ENST00000308230.5_Silent_p.S542S|BRSK2_ENST00000526678.1_Silent_p.S542S|BRSK2_ENST00000528841.1_Silent_p.S520S|BRSK2_ENST00000528710.1_Silent_p.S460S	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	520					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGAAGAAGTCCTGGTTTGGGA	0.577000													9	39					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795424	141795424	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:141795424G>C	ENST00000475668.2	+	64	7572	c.7518G>C	c.(7516-7518)caG>caC	p.Q2506H	MGAM_ENST00000549489.2_Missense_Mutation_p.Q1610H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1610					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTCCTGCAGACCAGATACA	0.507000													45	133					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473437	220473437	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220473437G>T	ENST00000456909.1	+	15	1826	c.1736G>T	c.(1735-1737)cGa>cTa	p.R579L	STK11IP_ENST00000295641.10_Missense_Mutation_p.R590L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTGGAGCGACTGGAGCTC	0.657000													12	25					3.07112e-06	3.28779e-06	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563209	55563209	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:55563209C>A	ENST00000335605.1	+	1	178	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P60T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTTCACACTCCTATGTACTT	0.383000													8	144					1.12685e-05	1.199e-05	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349599	150349599	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:150349599C>T	ENST00000218316.3	+	2	1613	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	515	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCTGAGCCCACCACTGCT	0.612000													51	55					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049859	184049859	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184049859T>G	ENST00000342981.4	+	31	5020	c.4606T>G	c.(4606-4608)Tta>Gta	p.L1536V	EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1535V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1495V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1372V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1339V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1542V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1535V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1448V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1449V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1340V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1371V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1496V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1535	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTAGTGACCTTAGAACAGCC	0.582000													17	85					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1418713	1418713	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1418713C>T	ENST00000336761.6	+	4	491	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R96W	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	96	RRM 1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAGAACACGGCCGAAGGA	0.567000													4	121					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72073070	72073070	+	Splice_Site	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:72073070A>C	ENST00000265381.4	-	6	1738		c.e6+1		APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTTGTACTGCACCTTCTTCCT	0.383000													64	61					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234153	21234153	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:21234153C>G	ENST00000233242.1	-	26	5714	c.5587G>C	c.(5587-5589)Gag>Cag	p.E1863Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1863					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCTAAACTCCACACCCTGA	0.438000													41	107					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584756	57584756	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:57584756G>C	ENST00000243077.3	+	43	7666	c.7200G>C	c.(7198-7200)aaG>aaC	p.K2400N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2400					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGGACAAGATCGAGCGGT	0.642000													12	34					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128441260	128441260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:128441260G>T	ENST00000297788.4	+	4	734	c.367G>T	c.(367-369)Gag>Tag	p.E123*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E173*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E123*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E173*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	123	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTCTCTACGGGAGGAGATTTC	0.473000													17	29					0.00074312	0.000771872	1	1	0
TOMM70A	9868	broad.mit.edu	37	3	100093991	100093991	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:100093991T>A	ENST00000284320.5	-	7	1546	c.1098A>T	c.(1096-1098)cgA>cgT	p.R366R		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GAGCATTTGCTCGAAGCTATA	0.398000													36	185					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32849516	32849516	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:32849516G>A	ENST00000341071.7	-	4	334	c.323C>T	c.(322-324)cCt>cTt	p.P108L	BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000413080.1_Missense_Mutation_p.P91L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P91L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P108L|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000455895.2_Missense_Mutation_p.P91L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	91							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGGCGAAGGGGCAAAGGT	0.527000													30	77					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63921014	63921014	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:63921014G>T	ENST00000443617.2	-	70	13054	c.12966_splice	c.e70-1	p.L4323_splice		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4323					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTAAGCCGAGCTGGGAATAA	0.438000													21	86					1.10513e-12	1.26456e-12	1	1	0
OR8B4	283162	broad.mit.edu	37	11	124294407	124294407	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294407G>A	ENST00000356130.3	-	1	382	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCACATAGCGATCATAGGCC	0.453000													37	65					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109669202	109669202	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:109669202C>T	ENST00000296486.3	-	9	1195	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	ETNPPL_ENST00000510706.1_Silent_p.L307L|ETNPPL_ENST00000512646.1_Silent_p.L289L|ETNPPL_ENST00000411864.2_Silent_p.L341L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TCTGTTTTTTCAGTAACTCAG	0.333000													20	70					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434693	79434693	+	Silent	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:79434693G>C	ENST00000264895.6	+	65	10601	c.10161G>C	c.(10159-10161)ctG>ctC	p.L3387L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3382					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTATGACCTGAGAGGCATCT	0.468000													40	130					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158604344	158604344	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158604344C>A	ENST00000368148.3	-	39	5734	c.5554G>T	c.(5554-5556)Gct>Tct	p.A1852S	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1852S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1852					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGTAGCAGCTAATGTATCT	0.393000													33	150					4.14481e-20	4.97092e-20	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62182551	62182551	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62182551C>G	ENST00000261517.5	-	67	9227	c.9154G>C	c.(9154-9156)Gta>Cta	p.V3052L	VPS13C_ENST00000395898.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V3052L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V3009L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3052					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGAAATGATACCCAGTGTATC	0.423000													26	47					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516046	140516046	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140516046C>G	ENST00000231134.5	+	1	1247	c.1030C>G	c.(1030-1032)Cct>Gct	p.P344A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGCCCCTGAACTCAC	0.498000													6	153					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366892	7366892	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7366892G>C	ENST00000311403.4	-	4	1748	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S470C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	470	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGTGATGACAGAGGGTGGAGG	0.672000													19	25					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184648306	184648306	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184648306A>T	ENST00000287546.4	+	33	3019	c.2848A>T	c.(2848-2850)Agt>Tgt	p.S950C	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.S948C|VPS8_ENST00000446204.2_Missense_Mutation_p.S858C|VPS8_ENST00000437079.3_Missense_Mutation_p.S950C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	950							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCCGGACACAGTGCAGAGGA	0.388000													7	144					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573738	28573738	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:28573738G>T	ENST00000220562.4	+	3	1064	c.162G>T	c.(160-162)ctG>ctT	p.L54L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	54						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCACCACTCTGGATGAGGCTG	0.602000													6	72					3.59834e-05	3.80551e-05	1	1	0
CA1	759	broad.mit.edu	37	8	86240821	86240821	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:86240821G>A	ENST00000523953.1	-	9	1800	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	CA1_ENST00000522389.1_Silent_p.L118L|CA1_ENST00000432364.2_Silent_p.L252L|CA1_ENST00000431316.1_Silent_p.L252L|CA1_ENST00000523022.1_Silent_p.L252L|CA1_ENST00000256119.5_Silent_p.L252L|CA1_ENST00000542576.1_Silent_p.L252L			P00915	CAH1_HUMAN	carbonic anhydrase I	252					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)	CTGCCCTTCAGAGGTTGGGTT	0.448000													31	110					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290669	1290669	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1290669G>C	ENST00000309212.6	-	4	463	c.433C>G	c.(433-435)Cac>Gac	p.H145D	MXRA8_ENST00000445648.2_Missense_Mutation_p.H145D|MXRA8_ENST00000342753.4_Missense_Mutation_p.H44D	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	145	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTAGAGGTGGCAGTAGTGA	0.726000													5	33					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158177960	158177960	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177960G>T	ENST00000410096.1	-	3	969	c.678C>A	c.(676-678)tcC>tcA	p.S226S	ERMN_ENST00000420719.2_Silent_p.S206S|ERMN_ENST00000397283.2_Silent_p.S239S|ERMN_ENST00000535935.1_Silent_p.S120S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	226						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGCTCAGTGGGGAGTCCTCAC	0.408000													46	182					6.31075e-24	7.70088e-24	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49620923	49620923	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:49620923C>T	ENST00000371571.4	-	3	1480	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	399						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATCTCGTTCTCGATGACGTAG	0.667000													16	48					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605716	90605716	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:90605716T>C	ENST00000369352.1	+	1	1529	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	510					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCCTGGGGTGTGTATGTAT	0.393000													5	54					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122528858	122528858	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:122528858G>A	ENST00000264357.5	+	6	1082	c.790G>A	c.(790-792)Gga>Aga	p.G264R	GRIA3_ENST00000541091.1_Missense_Mutation_p.G248R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264R|GRIA3_ENST00000371251.1_Missense_Mutation_p.G264R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATGCATGGGGGAGCCAACAT	0.428000													50	49					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726351	63726351	+	Silent	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:63726351A>C	ENST00000421025.1	+	5	609	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF679_ENST00000255746.4_Silent_p.R114R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATACCAAGAAGATATGGAAA	0.368000													12	45					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358916	12358916	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:12358916G>A	ENST00000269143.3	-	8	1010	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	260					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GATGAGCACCGTAGGCAGCAT	0.572000													7	25					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													7	254					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138152	31138152	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:31138152C>G	ENST00000538351.1	-	7	1789	c.1035G>C	c.(1033-1035)ttG>ttC	p.L345F	ZNF438_ENST00000331737.6_Missense_Mutation_p.L384F|ZNF438_ENST00000436087.2_Missense_Mutation_p.L394F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L394F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L384F|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.L394F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L394F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L384F	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCTGAAATGCCAAAATTTCAT	0.373000													30	122					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431719	179431719	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179431719C>G	ENST00000589042.1	-	326	79364	c.79140G>C	c.(79138-79140)atG>atC	p.M26380I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M24739I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M17315I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812I|TTN_ENST00000342175.6_Missense_Mutation_p.M17507I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24739	Ig-like 127.						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)			ATGGATTTTTCATTAGTACTG	0.408000													66	171					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21594894	21594894	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:21594894C>T	ENST00000298925.5	+	20	2558	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L	NELL1_ENST00000325319.5_Missense_Mutation_p.S717L|NELL1_ENST00000357134.5_Missense_Mutation_p.S774L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	774	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGGTGTTTCACGGCTTAGT	0.483000													18	165					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544279	28544279	+	Silent	SNP	G	G	A	rs76377611		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:28544279G>A	ENST00000401766.2	-	5	1254	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	SLC6A4_ENST00000261707.3_Silent_p.L248L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	248					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATGCCCCCCAGGTCCTGGAGC	0.587000													33	86					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259114	179259114	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179259114G>C	ENST00000190611.4	+	24	3024	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908T|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	883					lipid transport		lipid binding	p.R908I(1)|p.R883I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGATCTCGGAGACGATATATG	0.358000													36	148					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55794562	55794562	+	RNA	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:55794562C>G	ENST00000571348.1	+	0	52					NR_003276.2																						GGATGTGGCTCCCTGCTCTTG	0.632000													7	16					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312992	48312992	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:48312992T>G	ENST00000435803.1	+	17	3753	c.3729T>G	c.(3727-3729)gtT>gtG	p.V1243V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1243					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGCATTAGTTTCAGTAAAAA	0.373000													21	40					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51218960	51218960	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218960G>T	ENST00000293441.1	-	3	505	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	SHANK1_ENST00000391814.1_Missense_Mutation_p.Q163K|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q163K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	163					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGTTGGTCTGTTTGTAAACT	0.552000													41	147					5.78141e-17	6.83971e-17	1	1	0
MUC17	140453	broad.mit.edu	37	7	100676292	100676292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676292C>A	ENST00000306151.4	+	3	1659	c.1595C>A	c.(1594-1596)tCa>tAa	p.S532*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	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)					AGCACCCTTTCAACAACTCCT	0.498000													187	608					5.64929e-65	7.06667e-65	1	1	0
SNX30	401548	broad.mit.edu	37	9	115598518	115598518	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:115598518G>A	ENST00000374232.3	+	5	807	c.643G>A	c.(643-645)Ggg>Agg	p.G215R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	215					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAGAAGCAAGGGATAGCATT	0.493000													115	112					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140002088	140002088	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140002088C>T	ENST00000371589.4	+	12	1943	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.L327L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	624					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGGGAGATTCTGCAGAGCTT	0.657000													89	87					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118774061	118774061	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:118774061G>A	ENST00000334801.3	-	4	1597	c.633C>T	c.(631-633)caC>caT	p.H211H	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	211					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGAGGGCCGTGCGGGGCGC	0.697000													5	14					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618636	31618636	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:31618636G>A	ENST00000225823.2	-	1	1370	c.498C>T	c.(496-498)acC>acT	p.T166T	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	128					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCGGGCGCGCGGTGCGGTTGG	0.701000													13	26					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867898	30867898	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867898T>A	ENST00000251071.5	-	15	3395	c.2645A>T	c.(2644-2646)tAt>tTt	p.Y882F	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832F|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548F|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881F	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	882					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATACCTTTATAACCACCAGG	0.413000													52	106					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						33	67					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379500	154379500	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:154379500C>G	ENST00000406326.1	+	6	1171	c.768C>G	c.(766-768)tgC>tgG	p.C256W	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	367					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCTTCACTGCCTGCGTGACT	0.493000													7	18					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769986	37769986	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:37769986G>C	ENST00000402918.1	-	3	2374	c.1589C>G	c.(1588-1590)tCg>tGg	p.S530W	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.S530W	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	530						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCTGCAGCCGAGCCCTGGCC	0.607000													102	133					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823634	167823634	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:167823634C>G	ENST00000367848.1	-	18	2486	c.1989G>C	c.(1987-1989)acG>acC	p.T663T	ADCY10_ENST00000367851.4_Silent_p.T755T|ADCY10_ENST00000545172.1_Silent_p.T602T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	755					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						CCTCAGACTCCGTTTGTTGGA	0.433000													12	122					0	0	1	0	0
EEF1E1	9521	broad.mit.edu	37	6	8102739	8102739	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:8102739C>G	ENST00000379715.5	-	1	72	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000429723.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000507463.1_Missense_Mutation_p.E6Q	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	6					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					AGCGACAACTCTGCGGCCGCC	0.602000													7	65					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176175841	176175841	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:176175841C>A	ENST00000367669.3	-	1	788	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	RFWD2_ENST00000308769.8_Missense_Mutation_p.A92S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	92	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCCTGGCCGCGCAGCTGTGC	0.756000													4	24					0.150653	0.15196	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97766644	97766644	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:97766644G>T	ENST00000297293.5	+	2	414	c.121G>T	c.(121-123)Gca>Tca	p.A41S	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	41					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCACCTGCTGCAGAAGTTTC	0.348000													10	117					0.00621372	0.00635949	1	1	0
PDPK1	5170	broad.mit.edu	37	16	2636824	2636824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:2636824G>T	ENST00000342085.4	+	11	1422	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	PDPK1_ENST00000441549.3_Nonsense_Mutation_p.E425*|PDPK1_ENST00000268673.7_Nonsense_Mutation_p.E298*|PDPK1_ENST00000354836.5_Nonsense_Mutation_p.E401*|PDPK1_ENST00000389224.3_Nonsense_Mutation_p.E398*	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	425					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GAACTCCTTTGAACTGGACTT	0.512000													43	138					1.15183e-24	1.41049e-24	1	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980417	158980417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:158980417C>G	ENST00000485419.1	+	4	405	c.236C>G	c.(235-237)tCa>tGa	p.S79*	IQCJ_ENST00000451172.1_Nonsense_Mutation_p.S79*|IQCJ_ENST00000482126.1_Nonsense_Mutation_p.S52*|IQCJ-SCHIP1_ENST00000476809.1_Nonsense_Mutation_p.S52*|IQCJ_ENST00000397832.2_Nonsense_Mutation_p.S79*|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding	p.S79*(3)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TCTGTCTCCTCAGAGAAGCTG	0.532000													25	168					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772651	145772651	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:145772651C>T	ENST00000276826.5	-	4	2020	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	607					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCAGCGCCTCGTCCTCGCTG	0.687000													6	14					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61888504	61888504	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61888504A>G	ENST00000578681.1	+	14	1970	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	DDX42_ENST00000457800.2_Missense_Mutation_p.I457V|DDX42_ENST00000389924.2_Missense_Mutation_p.I457V|DDX42_ENST00000359353.5_Missense_Mutation_p.I338V|DDX42_ENST00000583590.1_Missense_Mutation_p.I457V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	457	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATCGACCCTATTCGAGTGGT	0.398000													24	65					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	865					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTCAGCTCGAAGACCTGGG	0.468000													21	77					1.00905e-13	1.16996e-13	1	1	0
SPATA13	221178	broad.mit.edu	37	13	24858302	24858302	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:24858302G>T	ENST00000424834.2	+	7	2667	c.2194G>T	c.(2194-2196)Gcc>Tcc	p.A732S	SPATA13_ENST00000382108.3_Missense_Mutation_p.A732S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A29S|SPATA13_ENST00000343003.6_Missense_Mutation_p.A51S|SPATA13_ENST00000382095.4_Missense_Mutation_p.A107S|SPATA13_ENST00000409126.1_Missense_Mutation_p.A29S			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	107					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGAGCCCTCTGCCTTAGTGGA	0.473000													9	48					1.58986e-06	1.70727e-06	1	1	0
SF3A1	10291	broad.mit.edu	37	22	30736775	30736775	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:30736775C>T	ENST00000439242.1	-	8	1034	c.903G>A	c.(901-903)caG>caA	p.Q301Q	SF3A1_ENST00000215793.7_Silent_p.Q366Q	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	366					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGGGCACTTTCTGCCCTTCTT	0.572000													20	118					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493302	20493302	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:20493302C>G	ENST00000202677.6	-	32	4853	c.4711G>C	c.(4711-4713)Gag>Cag	p.E1571Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1571					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TACTCATCCTCTTGAGCATTT	0.468000													21	61					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23536611	23536611	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23536611T>C	ENST00000449606.1	-	8	1473	c.1442A>G	c.(1441-1443)tAc>tGc	p.Y481C	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563459.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563232.1_Missense_Mutation_p.Y481C	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	481					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CACATTACTGTACTTGGTGCC	0.483000													18	63					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294278	124294278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294278G>A	ENST00000356130.3	-	1	511	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R164*(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGTCAGTCGCAGCATGCTT	0.542000													11	37					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964537	92964537	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:92964537C>T	ENST00000538690.1	+	5	680	c.119C>T	c.(118-120)aCc>aTc	p.T40I	FAM133A_ENST00000332647.4_Missense_Mutation_p.T40I|FAM133A_ENST00000355813.5_Missense_Mutation_p.T40I|FAM133A_ENST00000322139.4_Missense_Mutation_p.T40I	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	40										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CCAAGACCCACCTGGGAAGAA	0.378000													22	19					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040316	34040316	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34040316A>G	ENST00000389232.4	+	54	8061	c.7989_splice	c.e54-1	p.E2664_splice	RYR3_ENST00000415757.3_Splice_Site_p.E2664_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2664	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2664A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTTCTAGGAGAAGGAAATT	0.547000													31	76					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687228	151687228	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:151687228C>G	ENST00000325144.4	-	3	1113	c.973G>C	c.(973-975)Gat>Cat	p.D325H		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATGGGAGAATCAGAGATGTGC	0.572000													11	110					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167021	140167021	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140167021C>T	ENST00000504120.2	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHA1_ENST00000378133.3_Silent_p.N382N|PCDHA1_ENST00000394633.3_Silent_p.N382N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.562000													51	95					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45746601	45746601	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:45746601C>T	ENST00000403390.1	+	23	2340	c.2340C>T	c.(2338-2340)caC>caT	p.H780H	PFKL_ENST00000349048.4_Silent_p.H733H			P17858	K6PL_HUMAN	phosphofructokinase, liver	733					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCACAGGCACCGCATGCCAC	0.672000													5	10					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595868	32595868	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:32595868C>T	ENST00000286827.3	-	9	2320	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	TIAM1_ENST00000541036.1_Missense_Mutation_p.D617N|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	617					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAAACAGGTCCATTTGGAAC	0.458000													14	87					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241702674	241702674	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702674C>T	ENST00000498729.2	-	21	2104	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E611K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	611					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTGGCGTCTCCGCACAAGGC	0.637000													5	22					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29444377	29444377	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:29444377G>A	ENST00000544604.2	+	7	1088	c.912_splice	c.e7-1	p.E305_splice	ZNRF3_ENST00000402174.1_Splice_Site_p.E205_splice|ZNRF3_ENST00000332811.4_Splice_Site_p.E205_splice|ZNRF3_ENST00000406323.3_Splice_Site_p.E205_splice	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	305						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCCTGCCCAGGAGCTGCGGGT	0.617000													11	55					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642174	99642174	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:99642174C>T	ENST00000345514.2	-	3	1052	c.786G>A	c.(784-786)gaG>gaA	p.E262E	BCL11B_ENST00000357195.3_Silent_p.E333E|BCL11B_ENST00000443726.2_Silent_p.E139E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	333						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCCATCTCCTCGGCACTGA	0.736000			T	TLX3	T-ALL								3	6					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130799420	130799420	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:130799420G>T	ENST00000383366.4	+	4	617	c.324G>T	c.(322-324)acG>acT	p.T108T	NEK11_ENST00000356918.4_Silent_p.T108T|NEK11_ENST00000510688.1_Silent_p.T108T|NEK11_ENST00000511262.1_Silent_p.T108T|NEK11_ENST00000508196.1_Silent_p.T108T|NEK11_ENST00000507910.1_Silent_p.T108T|NEK11_ENST00000429253.2_Silent_p.T108T|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510769.1_Silent_p.T108T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	108	Protein kinase.		T -> M (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCATTATCACGGAGTACTGTG	0.418000													11	71					7.03913e-09	7.70111e-09	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117395557	117395557	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:117395557G>T	ENST00000321322.6	-	5	1081	c.1080C>A	c.(1078-1080)ttC>ttA	p.F360L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F90L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	300	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCCGAACCGAAGGTGTTGG	0.637000													3	10					6.4e-05	6.72919e-05	1	1	0
KRT9	3857	broad.mit.edu	37	17	39724874	39724874	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:39724874G>A	ENST00000246662.4	-	5	1121	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	KRT9_ENST00000588431.1_Silent_p.I119I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	352	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTCATGCTCGATCTGGGTTA	0.552000													6	371					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413476	65413476	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:65413476C>A	ENST00000519389.1	+	8	1706	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	HEPH_ENST00000374727.3_Silent_p.I458I|HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000343002.2_Silent_p.I455I|HEPH_ENST00000336279.5_Silent_p.I188I			Q9BQS7	HEPH_HUMAN	hephaestin	455	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTTGGAATCCTGGGTGAGG	0.423000													22	14					5.26018e-13	6.03882e-13	1	1	0
HOXB2	3212	broad.mit.edu	37	17	46621910	46621910	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:46621910G>A	ENST00000330070.4	-	1	1531	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	122					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCGGAGGCCGGAACGGCGGAG	0.642000													4	10					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786262	112786262	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:112786262C>G	ENST00000295408.4	+	19	3078	c.2821C>G	c.(2821-2823)Ctg>Gtg	p.L941V	MERTK_ENST00000421804.2_Missense_Mutation_p.L941V|MERTK_ENST00000409780.1_Missense_Mutation_p.L765V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	941					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGGGAAGATCTGACTTCTGC	0.537000													27	50					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24366162	24366162	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:24366162A>T	ENST00000005284.3	+	3	1506	c.304A>T	c.(304-306)Agg>Tgg	p.R102W		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	102					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			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)		AGGAGCTGTGAGGGCCTCCAG	0.632000													20	60					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267355	45267355	+	Splice_Site	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:45267355T>A	ENST00000303230.4	-	7	1676	c.1618_splice	c.e7-1	p.E540_splice		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	540						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCAAATCTCTATAAAAAC	0.393000													10	90					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53641650	53641650	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:53641650T>C	ENST00000342160.3	-	22	2563	c.2106A>G	c.(2104-2106)ccA>ccG	p.P702P	HUWE1_ENST00000262854.6_Silent_p.P702P|HUWE1_ENST00000218328.8_Silent_p.P702P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	702					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTGGATTGATGGCTTCTGAC	0.453000													34	22					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665373	64665373	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:64665373C>T	ENST00000421419.2	-	35	5052	c.4938G>A	c.(4936-4938)tcG>tcA	p.S1646S	ATG2A_ENST00000377264.3_Silent_p.S1644S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1644							protein binding	p.S1644S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCTCCTGCGAACCAGTGG	0.697000													11	54					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70514020	70514020	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70514020T>G	ENST00000260128.4	+	10	1734	c.1017T>G	c.(1015-1017)cgT>cgG	p.R339R	SULF1_ENST00000458141.2_Silent_p.R339R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.R339R|SULF1_ENST00000402687.4_Silent_p.R339R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGATATTCGTGTGCCTTTTT	0.418000													71	270					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26481755	26481755	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:26481755T>A	ENST00000311151.5	+	4	822	c.410T>A	c.(409-411)cTg>cAg	p.L137Q	DPYSL2_ENST00000523027.1_Missense_Mutation_p.L101Q|DPYSL2_ENST00000521913.1_Missense_Mutation_p.L101Q	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	137					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GACTACTCTCTGCATGTGGAC	0.557000													18	53					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212702	60212702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:60212702C>A	ENST00000267484.5	-	2	1074	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	247			G -> E (in dbSNP:rs35645652).		neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATGATTTTTCCCTCCACAGGA	0.448000													59	125					5.22555e-25	6.44423e-25	1	1	0
KIF1A	547	broad.mit.edu	37	2	241702692	241702692	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702692C>T	ENST00000498729.2	-	21	2086	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E605K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	605					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCGTGCGCTCACGCTCCTGC	0.627000													5	18					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033053	55033053	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:55033053C>T	ENST00000374987.3	+	6	808	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	248					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CGATAGCTACCGCTGCTTCCA	0.587000								Other BER factors					9	8					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115159	119115159	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:119115159G>C	ENST00000328252.3	+	16	4508	c.4139G>C	c.(4138-4140)gGa>gCa	p.G1380A	PAPPA_ENST00000534838.1_Missense_Mutation_p.G418A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1380	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAAGCCTGGATACCATGTG	0.527000													26	18					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34440901	34440901	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34440901C>G	ENST00000256544.3	-	5	631	c.489G>C	c.(487-489)atG>atC	p.M163I		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		CATTCAATCTCATATTCCTGC	0.363000													9	64					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096925	144096925	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144096925C>T	ENST00000467773.1	-	6	1078	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	360			R -> Q.		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCCATTTTTCGCCACTTGGC	0.527000													9	15					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6787456	6787456	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:6787456C>T	ENST00000396795.1	-	5	1020	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ZNF384_ENST00000396801.3_Missense_Mutation_p.E175K|ZNF384_ENST00000361959.3_Missense_Mutation_p.E175K|ZNF384_ENST00000355772.4_Missense_Mutation_p.E120K|ZNF384_ENST00000319770.3_Missense_Mutation_p.E159K|ZNF384_ENST00000396799.2_Missense_Mutation_p.E175K			Q8TF68	ZN384_HUMAN	zinc finger protein 384	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGCCTCCTTCCTCGGTTAGG	0.607000			T	"""EWSR1, TAF15 """	ALL								14	63					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56186819	56186819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:56186819C>A	ENST00000340462.4	-	5	1049	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ZBP1_ENST00000343535.4_Nonsense_Mutation_p.E280*|ZBP1_ENST00000371173.3_Nonsense_Mutation_p.E280*|ZBP1_ENST00000395822.3_Nonsense_Mutation_p.E205*			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	280						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAGGGCCCTCGGACGGGACG	0.647000													7	14					0.000442599	0.000461096	1	1	0
HOXC9	3225	broad.mit.edu	37	12	54396386	54396386	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:54396386A>G	ENST00000303450.4	+	2	781	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HOXC9_ENST00000508190.1_Silent_p.K237K|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	237					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGCAGGTCAAAATCTGGTTTC	0.488000													28	84					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060598	9060598	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:9060598G>T	ENST00000397910.4	-	3	27051	c.26848C>A	c.(26848-26850)Caa>Aaa	p.Q8950K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8952	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						TAGAATTCTTGTCTAGCGCTG	0.473000													84	190					2.13431e-38	2.66026e-38	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70331795	70331795	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:70331795C>G	ENST00000338508.4	-	32	4605	c.4606G>C	c.(4606-4608)Gat>Cat	p.D1536H	SHANK2_ENST00000449833.2_Missense_Mutation_p.D940H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D939H|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1156H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1156					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D940Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGCCCATCTGCATAGACT	0.507000													10	165					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20844357	20844357	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:20844357A>T	ENST00000261377.6	+	13	1504	c.1295A>T	c.(1294-1296)aAg>aTg	p.K432M	AC004381.6_ENST00000348433.6_Missense_Mutation_p.K432M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K432M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GTGGGTCAGAAGCTTCTTTTT	0.383000													42	106					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932870	148932870	+	RNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:148932870G>T	ENST00000539543.1	+	0	126					NR_027355.1																						GAGTTGGTGGGAGACGGGTGA	0.632000													10	192					9.70103e-10	1.07824e-09	1	1	0
PTBP1	5725	broad.mit.edu	37	19	810548	810548	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:810548C>G	ENST00000356948.6	+	14	1892	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	PTBP1_ENST00000349038.4_Nonsense_Mutation_p.S464*|PTBP1_ENST00000394601.4_Nonsense_Mutation_p.S483*|PTBP1_ENST00000350092.4_Nonsense_Mutation_p.S130*	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	464	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACAGGCCCTCAGTCTCCGAG	0.612000													25	55					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													6	46					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185158	56185158	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56185158A>T	ENST00000312253.1	-	1	550	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	184			F -> L (in dbSNP:rs7930678).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAGAGCTAAGAAGGGGAGGTC	0.453000													6	64					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94294363	94294363	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:94294363G>C	ENST00000265986.6	-	3	519	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	155					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTGTTCATGAGAAACATCA	0.353000													17	107					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958680	41958680	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:41958680G>A	ENST00000269095.4	-	8	1155	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MPP2_ENST00000518766.1_Missense_Mutation_p.P329L|MPP2_ENST00000523501.1_Missense_Mutation_p.P273L|MPP2_ENST00000377184.3_Missense_Mutation_p.P301L|MPP2_ENST00000520305.1_Missense_Mutation_p.P145L|MPP2_ENST00000461854.1_Missense_Mutation_p.P308L|MPP2_ENST00000536246.1_Missense_Mutation_p.P273L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	308	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCTGGCTGGGAATGAGCCC	0.592000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	77					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	150					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179546430	179546430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179546430C>T	ENST00000589042.1	-	136	33354	c.33130G>A	c.(33130-33132)Gaa>Aaa	p.E11044K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10727K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9800K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10727	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCTTCTGGGACAGGC	0.378000													22	75					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204342	125204342	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:125204342C>T	ENST00000431078.1	+	6	1110	c.746C>T	c.(745-747)gCg>gTg	p.A249V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	249	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGCAAAGCGCGGCTCAGC	0.582000													8	39					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707634	96707634	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:96707634C>A	ENST00000542454.2	+	3	3976	c.888C>A	c.(886-888)agC>agA	p.S296R	BDKRB2_ENST00000539359.1_Missense_Mutation_p.S296R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S323R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S323R			P30411	BKRB2_HUMAN	bradykinin receptor B2	323					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TGGCCTACAGCAACAGCTGCC	0.582000													11	30					6.40141e-05	6.72919e-05	1	1	0
GAMT	2593	broad.mit.edu	37	19	1397496	1397496	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1397496C>G	ENST00000252288.2	-	6	639	c.573G>C	c.(571-573)gaG>gaC	p.E191D		NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	191					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	GCACCTGCGTCTCCTGGTCGG	0.667000													19	60					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599312	136599312	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:136599312G>A	ENST00000531224.1	-	4	959	c.707C>T	c.(706-708)cCt>cTt	p.P236L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	236					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTCTGACTAGGTGGTGTAGC	0.443000													26	158					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760128	54760128	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54760128C>G	ENST00000450632.1	-	4	483	c.406G>C	c.(406-408)Gat>Cat	p.D136H	LILRB5_ENST00000316219.5_Missense_Mutation_p.D145H|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.D145H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	145	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGTGTATCACACTGGAGG	0.547000													26	74					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103832	53103832	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:53103832G>A	ENST00000408890.4	+	1	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731000													8	41					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70350626	70350626	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:70350626T>C	ENST00000558939.1	-	12	2300	c.923A>G	c.(922-924)gAc>gGc	p.D308G	TLE3_ENST00000557907.1_Missense_Mutation_p.D308G|TLE3_ENST00000317509.8_Missense_Mutation_p.D308G|TLE3_ENST00000559048.1_Missense_Mutation_p.D313G|TLE3_ENST00000440567.3_Missense_Mutation_p.D301G|TLE3_ENST00000560939.1_Missense_Mutation_p.D313G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.D318G|TLE3_ENST00000539550.1_Missense_Mutation_p.D252G|TLE3_ENST00000558201.1_Missense_Mutation_p.D314G|TLE3_ENST00000557997.1_Missense_Mutation_p.D308G|TLE3_ENST00000560589.1_Missense_Mutation_p.D252G|TLE3_ENST00000558379.1_Missense_Mutation_p.D308G|TLE3_ENST00000442299.2_Missense_Mutation_p.D308G|TLE3_ENST00000451782.2_Missense_Mutation_p.D308G			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	308	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAGGATTTGTCGTTCTGAAG	0.617000													39	117					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056438	95056438	+	Missense_Mutation	SNP	C	C	T	rs61740460	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:95056438C>T	ENST00000329597.7	+	4	890	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SERPINA5_ENST00000554866.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S227L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	227					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TACGTGACCTCGGAGACTGTG	0.512000													14	30					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50378316	50378316	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:50378316G>C	ENST00000376020.2	-	4	782	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q253E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q137E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	253					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GATGACATCTGAGAGCTGGGG	0.657000													5	5					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77365394	77365394	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:77365394C>G	ENST00000373316.4	+	2	263	c.96C>G	c.(94-96)aaC>aaG	p.N32K	PGK1_ENST00000442431.1_Missense_Mutation_p.N32K|PGK1_ENST00000537456.1_Missense_Mutation_p.N4K	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	32					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TGAAGAACAACCAGATAACAA	0.378000													9	112					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													7	138					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121960383	121960383	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:121960383T>G	ENST00000334010.7	-	28	4142	c.3721A>C	c.(3721-3723)Agg>Cgg	p.R1241R	CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000412584.2_Silent_p.R1202R|CADPS2_ENST00000449022.2_Silent_p.R1243R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CGAAAGTCCCTGTAGGTTTTC	0.393000													57	170					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886317	144886317	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144886317G>C	ENST00000356994.2	-	22	3025	c.3019C>G	c.(3019-3021)Ctg>Gtg	p.L1007V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L926V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L1007V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1007	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCTTGGCAGACGGATCTCC	0.627000													5	30					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163070542	163070542	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:163070542C>A	ENST00000188790.4	-	11	1115	c.908G>T	c.(907-909)cGa>cTa	p.R303L	FAP_ENST00000443424.1_Missense_Mutation_p.R278L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	303					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.R303L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAAACATACTCGTTCATCAGT	0.408000													34	137					2.08457e-15	2.44132e-15	1	1	0
SYT1	6857	broad.mit.edu	37	12	79689870	79689870	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:79689870G>C	ENST00000261205.4	+	7	1153	c.496G>C	c.(496-498)Gct>Cct	p.A166P	SYT1_ENST00000457153.2_Missense_Mutation_p.A163P|SYT1_ENST00000393240.3_Missense_Mutation_p.A166P|SYT1_ENST00000552744.1_Missense_Mutation_p.A166P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	166	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GATCATTCAGGCTGCCGAACT	0.428000													28	89					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704310	56704310	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704310T>A	ENST00000586855.2	-	2	425	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGGGTTCCTGTCGTGATTT	0.562000													8	44					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335059	78335059	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:78335059C>A	ENST00000466548.1	+	7	1471	c.1445C>A	c.(1444-1446)cCa>cAa	p.P482Q	SLAIN1_ENST00000314070.5_Missense_Mutation_p.P105Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P263Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P340Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P263Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P219Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	482										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TATGTGAGTCCAACCGTTCAA	0.517000													29	68					7.38237e-10	8.25784e-10	1	1	0
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378000													4	106					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038610	75038610	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:75038610C>A	ENST00000326665.5	-	14	3002	c.2784G>T	c.(2782-2784)tcG>tcT	p.S928S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	928	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCCTCCTCCGATGTCGCTG	0.552000													4	163					0.00024832	0.000259472	1	1	0
IDS	3423	broad.mit.edu	37	X	148571967	148571967	+	Missense_Mutation	SNP	T	T	C	rs113993953	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:148571967T>C	ENST00000340855.6	-	7	1093	c.884A>G	c.(883-885)aAa>aGa	p.K295R	IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.K295R|IDS_ENST00000541269.1_Missense_Mutation_p.K84R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	295						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCGGATTTTCCGCTGCAA	0.458000													37	23					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47783631	47783631	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:47783631T>C	ENST00000240333.6	-	3	395	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I129V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	92						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGATAGGAGATAGAACAGGCA	0.468000													11	38					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153353	74153353	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:74153353C>A	ENST00000443185.2	-	3	1975	c.1658G>T	c.(1657-1659)cGg>cTg	p.R553L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	553					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)		GCAGCGGGCCCGCGCCGCCCT	0.711000													14	27					9.16793e-09	9.99877e-09	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11049462	11049462	+	RNA	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11049462C>T	ENST00000470054.1	-	0	646									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)		GCAGTTCTGGCACACTTTGCA	0.408000													11	333					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518496	129518496	+	Missense_Mutation	SNP	G	G	A	rs5975187	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:129518496G>A	ENST00000276218.2	-	1	1015	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	309			S -> L (in dbSNP:rs5975187).			integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATTCCTGGCCGAGAGAAAGAG	0.537000													35	28					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058473	152058473	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152058473G>C	ENST00000368806.1	-	3	1749	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	562							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTGTCTCTGAGCTGCTATT	0.542000													40	150					0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378415	144378415	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144378415C>T	ENST00000330143.3	+	3	979	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCAAGGCCTTCGGCCAGAGCT	0.711000													14	28					0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473055	45473055	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:45473055T>A	ENST00000298295.3	-	2	641	c.424A>T	c.(424-426)Agc>Tgc	p.S142C	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	142						mitochondrion				lung(1)	1						ATGGGCTTGCTGCTGTCCATC	0.632000													7	38					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158177959	158177959	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177959G>T	ENST00000410096.1	-	3	970	c.679C>A	c.(679-681)Cca>Aca	p.P227T	ERMN_ENST00000420719.2_Missense_Mutation_p.P207T|ERMN_ENST00000397283.2_Missense_Mutation_p.P240T|ERMN_ENST00000535935.1_Missense_Mutation_p.P121T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	227						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTGCTCAGTGGGGAGTCCTCA	0.413000													45	181					1.00776e-21	1.21698e-21	1	1	0
AGAP11	119385	broad.mit.edu	37	10	88759231	88759231	+	RNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:88759231G>T	ENST00000444431.1	+	0	361				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TACCTTTCTGGAATGGTGCAT	0.353000													25	75					4.7796e-09	5.26209e-09	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26540393	26540393	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:26540393C>T	ENST00000381340.3	-	55	8247	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2611					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACATAACTTTCAGGTCCAGTG	0.378000													4	153					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278751	50278751	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:50278751G>A	ENST00000216268.4	+	2	1918	c.1441G>A	c.(1441-1443)Ggc>Agc	p.G481S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	481						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGTACTGCGGCTGTGCCAT	0.587000													47	242					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813950	42813950	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:42813950G>A	ENST00000499536.2	+	1	1025	c.214G>A	c.(214-216)Gag>Aag	p.E72K	PRR19_ENST00000341747.3_Missense_Mutation_p.E72K|PRR19_ENST00000598490.1_Missense_Mutation_p.E72K			A6NJB7	PRR19_HUMAN	proline rich 19	72										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCTGAGCCGGGAGCACCGGGG	0.627000													48	189					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467457	66467457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:66467457G>A	ENST00000273854.3	-	3	1412	c.812C>T	c.(811-813)cCt>cTt	p.P271L	EPHA5_ENST00000511294.1_Missense_Mutation_p.P271L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P271L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P271L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	271	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTTTGGGAGGTTCATCGGT	0.532000										TSP Lung(17;0.13)			26	67					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:153247165G>C	ENST00000281708.4	-	10	2866	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S428*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S466*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S370*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								42	69					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2431827	2431827	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:2431827C>A	ENST00000325327.3	-	10	1726	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	LMNB2_ENST00000582871.1_Missense_Mutation_p.G535V|LMNB2_ENST00000475819.1_5'UTR			Q03252	LMNB2_HUMAN	lamin B2	535	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCCCGTGCCCCAGCTGCT	0.687000													19	49					3.32936e-07	3.60853e-07	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133663989	133663989	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:133663989G>A	ENST00000310926.4	-	10	1684	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.H395Y	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	471	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGCCGGCATGGCAAGGGGAG	0.592000													158	285					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041495	207041495	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041495T>C	ENST00000407325.2	-	3	839	c.477A>G	c.(475-477)atA>atG	p.I159M	GPR1_ENST00000437420.1_Missense_Mutation_p.I159M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	159						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GCCAGATGAATATAATGACAA	0.433000													30	99					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161159610	161159610	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:161159610G>C	ENST00000308192.9	+	15	1906	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	615	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GATATCCCCAGAGTGGGTGTT	0.408000													24	102					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99695171	99695171	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:99695171T>C	ENST00000393483.3	-	12	1677	c.833A>G	c.(832-834)gAt>gGt	p.D278G	TSGA10_ENST00000410001.1_Missense_Mutation_p.D278G|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.D278G|TSGA10_ENST00000542655.1_Missense_Mutation_p.D278G|TSGA10_ENST00000355053.4_Missense_Mutation_p.D278G	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	278					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGATTTTTTATCCAAACATGC	0.363000													7	103					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356440	140356440	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140356440G>T	ENST00000406427.1	-	32	4035	c.3699C>A	c.(3697-3699)ggC>ggA	p.G1233G	PNPLA7_ENST00000371457.1_Silent_p.G814G|PNPLA7_ENST00000277531.4_Silent_p.G1208G|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1208					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)		TCTCCAGCACGCCGCTGCGGC	0.716000													5	9					0.217242	0.218494	1	1	0
ROBO3	64221	broad.mit.edu	37	11	124740596	124740596	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124740596T>A	ENST00000397801.1	+	6	1197	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	ROBO3_ENST00000538940.1_Silent_p.A313A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	335	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGGGCCGCGCTGAAGCATCTG	0.582000													3	19					0	0	1	0	0
HTN1	3346	broad.mit.edu	37	4	70920042	70920042	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:70920042G>A	ENST00000511674.1	+	3	126	c.55G>A	c.(55-57)Gct>Act	p.A19T	HTN1_ENST00000246896.3_Missense_Mutation_p.A19T			P15515	HIS1_HUMAN	histatin 1	19					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.A19T(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						TTCCAAGAGCGCTGATTCACA	0.229000													25	99					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696917	111696917	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:111696917T>C	ENST00000435970.1	-	15	3223	c.2407A>G	c.(2407-2409)Act>Gct	p.T803A	REV3L_ENST00000358835.3_Missense_Mutation_p.T881A|REV3L_ENST00000368805.1_Missense_Mutation_p.T881A|REV3L_ENST00000368802.3_Missense_Mutation_p.T881A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	881					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCTCCACGAGTGGTTTTAGTT	0.358000								DNA polymerases (catalytic subunits)					21	138					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24800508	24800508	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:24800508C>T	ENST00000310677.4	-	6	837	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ADCY4_ENST00000418030.2_Missense_Mutation_p.E242K|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCATGATCTCTGCCTTCATC	0.552000													14	59					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78285432	78285432	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:78285432G>A	ENST00000281038.5	-	1	477	c.102C>T	c.(100-102)ctC>ctT	p.L34L		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	34					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCTGAGCCCCGAGAGCGTCCC	0.587000													47	116					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128271	42128271	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42128271C>A	ENST00000401548.3	+	10	1159	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000400107.1_De_novo_Start_InFrame|MEI1_ENST00000540833.1_Missense_Mutation_p.S113R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	373							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGTGAGGAGCCTGCAGGGAA	0.552000													9	18					0.00829132	0.00846102	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124856680	124856680	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:124856680C>A	ENST00000356219.3	-	21	2850	c.2695G>T	c.(2695-2697)Ggg>Tgg	p.G899W	NCOR2_ENST00000404621.1_Missense_Mutation_p.G881W|NCOR2_ENST00000397355.1_Missense_Mutation_p.G882W|NCOR2_ENST00000405201.1_Missense_Mutation_p.G899W|NCOR2_ENST00000404121.2_Missense_Mutation_p.G452W|NCOR2_ENST00000429285.2_Missense_Mutation_p.G881W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	899					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGCCGCTCCCGCCCTCCTTC	0.721000													21	75					5.26018e-13	6.03882e-13	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70949734	70949734	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:70949734T>C	ENST00000334414.6	-	19	4953	c.4909A>G	c.(4909-4911)Aag>Gag	p.K1637E	PTPRB_ENST00000451516.2_Missense_Mutation_p.K1329E|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1419E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1549E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1329E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1419					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTACCTCTTATGGGGCACT	0.478000													17	78					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081731	53081731	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:53081731T>G	ENST00000305901.5	-	1	478	c.351A>C	c.(349-351)acA>acC	p.T117T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	117					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGTCCGAGACTGTGGAGATGG	0.642000													6	29					0	0	1	0	0
PLAC1	10761	broad.mit.edu	37	X	133700082	133700082	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:133700082A>T	ENST00000359237.4	-	3	916	c.631T>A	c.(631-633)Tcc>Acc	p.S211T	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	211					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GATCACATGGACCCAATCATA	0.438000													23	37					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294004	25294004	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:25294004C>T	ENST00000400358.4	+	19	2145	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	SGSM1_ENST00000400359.4_Silent_p.P751P	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	751	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGAAACAGCCCAAGATCCCCA	0.557000													17	30					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72315214	72315214	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72315214C>G	ENST00000550746.1	+	17	1898	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	TBC1D15_ENST00000319106.8_Missense_Mutation_p.L603V|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L366V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L595V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	612							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAATTTCTCTACAGATGGT	0.313000													47	162					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084692	3084692	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084692A>C	ENST00000397461.1	+	21	2927	c.2543A>C	c.(2542-2544)gAa>gCa	p.E848A	CNTN4_ENST00000358480.3_Missense_Mutation_p.E629A|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520A|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520A|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848A|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACAAAGAAGAAAATGCTAGA	0.353000													4	42					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044215	20044215	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:20044215G>T	ENST00000343769.5	+	4	479	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	151						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGATAAATATGGGAAAGTCTT	0.323000													11	88					9.70103e-10	1.07824e-09	1	1	0
DDX18	8886	broad.mit.edu	37	2	118579836	118579836	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:118579836A>G	ENST00000263239.2	+	7	1193	c.1066_splice	c.e7+1	p.P355_splice	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	355	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTTTTGCCAAGTAAGTAGG	0.358000													10	50					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599049	45599049	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:45599049C>T	ENST00000336156.4	-	7	739	c.674G>A	c.(673-675)cGc>cAc	p.R225H	KIAA0930_ENST00000443310.3_Missense_Mutation_p.R207H|KIAA0930_ENST00000391627.2_Missense_Mutation_p.R191H|KIAA0930_ENST00000251993.7_Missense_Mutation_p.R230H	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	225							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTGTGCCATGCGGGCGGCCAC	0.667000													5	398					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87079403	87079403	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:87079403G>A	ENST00000265723.4	-	8	825	c.714C>T	c.(712-714)ctC>ctT	p.L238L	ABCB4_ENST00000358400.3_Silent_p.L238L|ABCB4_ENST00000359206.3_Silent_p.L238L|ABCB4_ENST00000545634.1_Silent_p.L238L|ABCB4_ENST00000453593.1_Silent_p.L238L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	238	ABC transmembrane type-1 1.		L -> V (in dbSNP:rs45596335).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TAAATGCCGAGAGTATCTGGA	0.478000													34	125					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388285	72388285	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72388285A>G	ENST00000333850.3	+	8	1149	c.1008A>G	c.(1006-1008)tcA>tcG	p.S336S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	336					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCAGTTTTCACAAGAAATAG	0.413000													39	131					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880535	121880535	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:121880535C>T	ENST00000377069.4	-	18	2908	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	KDM2B_ENST00000542973.1_Silent_p.K271K|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.K903K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	903					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCCCTGGTCTTGGGGGGCG	0.697000													8	21					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52245395	52245395	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:52245395T>A	ENST00000299601.5	-	8	1466	c.1406A>T	c.(1405-1407)aAt>aTt	p.N469I	LEO1_ENST00000315141.5_Missense_Mutation_p.N409I	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	469					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AAAAAGATGATTGTGGTCGCC	0.373000													17	57					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761125	241761125	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:241761125T>A	ENST00000366554.2	-	3	974	c.868A>T	c.(868-870)Ata>Tta	p.I290L	OPN3_ENST00000331838.5_Missense_Mutation_p.I211L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	290					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACAATAGATATTGTTGGAGTG	0.383000													38	101					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732209	140732209	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140732209C>A	ENST00000523390.1	+	1	2382	c.2382C>A	c.(2380-2382)atC>atA	p.I794I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_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)			ATCACAAAATCGCTTATGACC	0.468000													9	9					5.4927e-09	6.02816e-09	1	1	0
TPK1	27010	broad.mit.edu	37	7	144463007	144463007	+	Silent	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144463007A>T	ENST00000360057.3	-	3	183	c.81T>A	c.(79-81)ccT>ccA	p.P27P	TPK1_ENST00000378099.3_Silent_p.P27P	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	27					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AGTTGTCCAAAGGCTGATTAA	0.318000													21	86					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676291	100676291	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676291T>C	ENST00000306151.4	+	3	1658	c.1594T>C	c.(1594-1596)Tca>Cca	p.S532P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	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)					TAGCACCCTTTCAACAACTCC	0.498000													190	605					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36074810	36074810	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:36074810T>A	ENST00000258840.6	-	36	6048	c.5658A>T	c.(5656-5658)gtA>gtT	p.V1886V	RALGAPA1_ENST00000389698.3_Silent_p.V1839V|RALGAPA1_ENST00000382366.3_Silent_p.V1852V|RALGAPA1_ENST00000307138.6_Silent_p.V1839V			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1839	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGACCAGCTACAAAATCTT	0.323000													35	102					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935231	4935231	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4935231G>A	ENST00000345988.2	-	22	3514	c.3425C>T	c.(3424-3426)gCc>gTc	p.A1142V	PPL_ENST00000590782.2_Missense_Mutation_p.A1140V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1142					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGAGCCTTGGCAGCCTCGTC	0.617000													24	67					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56479213	56479213	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:56479213T>C	ENST00000370754.5	-	36	4899	c.4900A>G	c.(4900-4902)Atc>Gtc	p.I1634V	DST_ENST00000244364.6_Missense_Mutation_p.I1130V|DST_ENST00000370769.4_Missense_Mutation_p.I1456V|DST_ENST00000312431.6_Missense_Mutation_p.I1456V|DST_ENST00000370788.2_Missense_Mutation_p.I1456V|DST_ENST00000421834.2_Missense_Mutation_p.I1456V|DST_ENST00000446842.2_Missense_Mutation_p.I1130V|DST_ENST00000361203.3_Missense_Mutation_p.I1456V			Q03001	DYST_HUMAN	dystonin	1456					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCTTGCTGATATTTGATACC	0.353000													23	57					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860056	151860056	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:151860056G>A	ENST00000355193.2	-	43	10824	c.10606C>T	c.(10606-10608)Cat>Tat	p.H3536Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H3536Y					lysine (K)-specific methyltransferase 2C																		AGATTTCCATGTCCCTGCTTC	0.502000													13	93					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728458	76728458	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:76728458G>C	ENST00000369950.3	-	7	973	c.784C>G	c.(784-786)Cta>Gta	p.L262V	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	262	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTCCTGCTAGCTCCTGGTAA	0.552000													10	144					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688719	81688719	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:81688719C>G	ENST00000550584.2	-	23	3115	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q157H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q841H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q925H|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q866H|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q507H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q787H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q925H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q940H	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	866										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAATTTCTCTCTGGATCTCAG	0.493000													11	46					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61546400	61546400	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:61546400C>G	ENST00000398571.2	-	22	3152	c.3076G>C	c.(3076-3078)Gat>Cat	p.D1026H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1026					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTGCATCATCATAACATTCA	0.308000													49	153					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939273	2939273	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:2939273C>A	ENST00000378404.2	+	1	1228	c.1023C>A	c.(1021-1023)acC>acA	p.T341T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	341						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTTCTCCACCTGGATTGGAG	0.607000													55	118					4.6707e-30	5.80098e-30	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56388466	56388466	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:56388466C>T	ENST00000355701.3	-	19	4060	c.3190G>A	c.(3190-3192)Ggg>Agg	p.G1064R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1004R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1064R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1064	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCGACTCCCCGTGGGGCGAC	0.692000													4	13					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041523	207041523	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041523G>T	ENST00000407325.2	-	3	811	c.449C>A	c.(448-450)aCc>aAc	p.T150N	GPR1_ENST00000437420.1_Missense_Mutation_p.T150N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	150						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GTTCTTGAGGGTTCGATGCCG	0.458000													30	110					3.99451e-17	4.74178e-17	1	1	0
TWISTNB	221830	broad.mit.edu	37	7	19748631	19748631	+	Silent	SNP	T	T	A	rs145791338	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:19748631T>A	ENST00000222567.5	-	1	79	c.9A>T	c.(7-9)gcA>gcT	p.A3A		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	3						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGAGCAACCTGCAGCCATGC	0.647000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	47					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653421	1653421	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:1653421G>C	ENST00000252804.4	-	17	2181	c.2131C>G	c.(2131-2133)Cca>Gca	p.P711A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	711					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTACTGTGGAGACACCAGG	0.592000													12	86					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99226647	99226647	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:99226647G>C	ENST00000438925.2	-	15	1644	c.1309C>G	c.(1309-1311)Ctg>Gtg	p.L437V	MMS19_ENST00000327238.10_Missense_Mutation_p.L339V|MMS19_ENST00000355839.6_Missense_Mutation_p.L394V|MMS19_ENST00000327277.7_Missense_Mutation_p.L73V|MMS19_ENST00000370782.2_Missense_Mutation_p.L437V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	437					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAGCCATTCAGAGGCCTTTGA	0.517000								Direct reversal of damage					12	72					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112471791	112471791	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:112471791C>T	ENST00000230538.7	-	17	2492	c.2095G>A	c.(2095-2097)Ggt>Agt	p.G699S	LAMA4_ENST00000424408.2_Missense_Mutation_p.G692S|LAMA4_ENST00000389463.4_Missense_Mutation_p.G692S|LAMA4_ENST00000522006.1_Missense_Mutation_p.G692S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	699	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGGGCTCCACCCACACGCCTG	0.493000													20	126					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435806	435806	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:435806G>A	ENST00000338977.5	-	2	2462	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.A817V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTAGTAAACGCTTTACCACA	0.393000													29	55					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015019	34015019	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34015019G>T	ENST00000389232.4	+	44	6793	c.6723G>T	c.(6721-6723)ttG>ttT	p.L2241F	RYR3_ENST00000415757.3_Missense_Mutation_p.L2241F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2241	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGGGCTCTTGGCAGCCATGC	0.572000													27	150					2.48779e-11	2.79177e-11	1	1	0
GNL1	2794	broad.mit.edu	37	6	30521326	30521326	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:30521326A>G	ENST00000376621.3	-	6	1579	c.609T>C	c.(607-609)aaT>aaC	p.N203N		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	203					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGCGGGAAATTCACAACCT	0.532000													7	78					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43714735	43714735	+	Silent	SNP	G	G	T	rs149806632		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:43714735G>T	ENST00000398437.1	+	15	2359	c.2211G>T	c.(2209-2211)acG>acT	p.T737T	ABCG1_ENST00000361802.2_Silent_p.T591T|ABCG1_ENST00000347800.2_Silent_p.T576T|ABCG1_ENST00000340588.4_Silent_p.T699T|ABCG1_ENST00000343687.3_Silent_p.T590T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.T579T|ABCG1_ENST00000398457.2_Silent_p.T581T			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	591					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCCCCACGTACCTACAGT	0.622000													24	45					7.92952e-12	8.956e-12	1	1	0
ORM2	5005	broad.mit.edu	37	9	117093137	117093137	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:117093137G>C	ENST00000431067.2	+	3	359	c.323G>C	c.(322-324)aGa>aCa	p.R108T	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				ACCGTCTCCAGATACGGTGAG	0.567000													6	102					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139993125	139993125	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:139993125T>A	ENST00000394235.2	-	6	887	c.385A>T	c.(385-387)Att>Ttt	p.I129F	ELF2_ENST00000510408.1_Missense_Mutation_p.I69F|ELF2_ENST00000379549.2_Missense_Mutation_p.I81F|ELF2_ENST00000358635.3_Missense_Mutation_p.I81F|ELF2_ENST00000379550.1_Missense_Mutation_p.I141F|ELF2_ENST00000265495.4_Missense_Mutation_p.I129F	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	141					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTTTCTGTAATGACATCTGGC	0.388000													7	144					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15091659	15091659	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:15091659T>C	ENST00000378217.3	+	3	245	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	OLAH_ENST00000378228.3_Missense_Mutation_p.Y20H	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	20					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CAACTGCTTATACAAAAACCC	0.358000													20	87					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22037292	22037292	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:22037292G>A	ENST00000306385.5	+	7	1581	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	BMP1_ENST00000397814.3_Missense_Mutation_p.R304Q|BMP1_ENST00000397816.3_Missense_Mutation_p.R304Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R304Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAAGGACACGGCTCAGCAAG	0.587000													23	27					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66492458	66492458	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:66492458G>A	ENST00000256447.4	-	1	169	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	4					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)		AGCAGCTGACGTCAAACGCCA	0.493000													11	139					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901716	215901716	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:215901716C>T	ENST00000366943.2	-	61	12108	c.11722G>A	c.(11722-11724)Ggc>Agc	p.G3908S	USH2A_ENST00000307340.3_Missense_Mutation_p.G3908S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3908	Fibronectin type-III 24.				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)		TCTTCAATGCCAGCAGGGCGT	0.428000										HNSCC(13;0.011)			22	40					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31673444	31673444	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:31673444G>C	ENST00000261592.5	-	5	1054	c.757C>G	c.(757-759)Cat>Gat	p.H253D	NOL4_ENST00000589544.1_Missense_Mutation_p.H253D|NOL4_ENST00000538587.1_Missense_Mutation_p.H179D|NOL4_ENST00000535475.1_Missense_Mutation_p.H98D|NOL4_ENST00000269185.4_Missense_Mutation_p.H139D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	253						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGCTGGCCATGAAGATTCTGG	0.383000													39	108					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						integral to membrane|plasma membrane	symporter activity	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652000													4	100					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337084	57337084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337084G>T	ENST00000374900.4	+	3	454	c.334G>T	c.(334-336)Gaa>Taa	p.E112*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	112						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGAGAAGCAGGAAGATGAAGC	0.413000										HNSCC(52;0.14)			20	24					0.00152264	0.00157686	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72319325	72319325	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:72319325C>T	ENST00000340595.3	+	9	1500	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V	SLC4A4_ENST00000264485.5_Missense_Mutation_p.A479V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A479V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A435V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A479V|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	479						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATTTATCTGGCAACTGTAACT	0.403000													43	197					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157458	155157458	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157458C>A	ENST00000357232.3	-	25	6980	c.6981G>T	c.(6979-6981)ctG>ctT	p.L2327L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2327	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGAAATAGGCAGATTTTCTG	0.398000													38	89					6.19805e-25	7.61662e-25	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180625	65180625	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:65180625T>C	ENST00000310045.7	-	2	2724	c.1251A>G	c.(1249-1251)gcA>gcG	p.A417A	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	407						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGTATTTTTGCAGTACCAT	0.478000													21	54					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589888	108589888	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:108589888C>T	ENST00000332082.4	+	3	1097	c.279C>T	c.(277-279)ttC>ttT	p.F93F	WSCD2_ENST00000549903.1_Silent_p.F93F|WSCD2_ENST00000261400.3_Silent_p.F93F|WSCD2_ENST00000547525.1_Silent_p.F93F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	93						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GACCCTGGTTCAAGGGCAAGG	0.602000													38	102					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957720	61957720	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61957720G>C	ENST00000423893.2	-	5	676	c.615C>G	c.(613-615)atC>atG	p.I205M	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000449787.2_Missense_Mutation_p.I190M			P01242	SOM2_HUMAN	growth hormone 2	205						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGCACTGCACGATGCGCAGGA	0.587000													29	82					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978159	61978159	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:61978159C>G	ENST00000370263.4	-	6	2036	c.1815G>C	c.(1813-1815)atG>atC	p.M605I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	605					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGATGATGAACATCCAGAGGA	0.662000													18	61					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321641	152321641	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:152321641G>A	ENST00000243326.4	+	29	6090	c.5607G>A	c.(5605-5607)tcG>tcA	p.S1869S	RIF1_ENST00000453091.2_Silent_p.S1869S|RIF1_ENST00000428287.2_Silent_p.S1869S|RIF1_ENST00000444746.2_Silent_p.S1869S|RIF1_ENST00000430328.2_Silent_p.S1869S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1869					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGGAGACTCGAAAAATGTTT	0.373000													32	82					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760789	153760789	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:153760789C>G	ENST00000393562.2	-	10	1753	c.1370G>C	c.(1369-1371)aGa>aCa	p.R457T	G6PD_ENST00000369620.2_Missense_Mutation_p.R473T|G6PD_ENST00000393564.2_Missense_Mutation_p.R427T	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	427					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTGTATCTGTTGCCGTA	0.612000													86	86					0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77918076	77918076	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:77918076T>C	ENST00000353265.3	-	3	906	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	237	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTGTTGGCGATCATCATGTCC	0.667000													25	45					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305074	48305074	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:48305074C>T	ENST00000535759.1	-	4	1484	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	TPRX1_ENST00000543508.1_Silent_p.V388V|TPRX1_ENST00000322175.3_Silent_p.V398V			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	398						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GATTTTCATTCACAGAGCCAC	0.522000													37	109					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184105822	184105822	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184105822G>C	ENST00000204604.1	+	20	2800		c.e20+1		CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTGTCCAGGTGAGAGAGGT	0.592000													5	18					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90447129	90447129	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:90447129C>T	ENST00000357484.5	-	4	508	c.388G>A	c.(388-390)Gag>Aag	p.E130K	C15orf38_ENST00000460685.1_Missense_Mutation_p.E34K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E130K	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GTGAGGCTCTCTGTCAGCGCG	0.647000													18	75					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62165562	62165562	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62165562T>C	ENST00000261517.5	-	78	10534	c.10461A>G	c.(10459-10461)aaA>aaG	p.K3487K	VPS13C_ENST00000395898.3_Silent_p.K3444K|VPS13C_ENST00000395896.4_Silent_p.K3487K|VPS13C_ENST00000249837.3_Silent_p.K3444K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3487					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCCAAACCTTTCCCAACAG	0.438000													53	131					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42225914	42225914	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:42225914C>A	ENST00000541110.1	-	10	2923	c.2355G>T	c.(2353-2355)acG>acT	p.T785T	TRERF1_ENST00000340840.2_Silent_p.T682T|TRERF1_ENST00000354325.2_Silent_p.T682T|TRERF1_ENST00000372917.4_Silent_p.T682T|TRERF1_ENST00000372922.4_Silent_p.T765T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	765	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGGTGACCGTCACGTTGC	0.433000													6	57					0.00198382	0.00204234	1	1	0
SPATA16	83893	broad.mit.edu	37	3	172631466	172631466	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:172631466C>G	ENST00000351008.3	-	10	1755	c.1572G>C	c.(1570-1572)tgG>tgC	p.W524C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	524					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGATCATATTCCACACACGTT	0.373000													19	128					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158636108	158636108	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158636108G>T	ENST00000368148.3	-	16	2398	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q740K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	740					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAAACCTGACGAGCAGCC	0.463000													12	46					7.93312e-07	8.54524e-07	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51218945	51218945	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218945C>T	ENST00000293441.1	-	3	520	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E168K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E168K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	168					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTGCTTCTCATCCAGGTTG	0.542000													39	159					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180150	89180150	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:89180150G>A	ENST00000286614.6	-	4	738	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	153					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AAGGCACGGCGAATAGCTTTA	0.373000													13	68					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123857283	123857283	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:123857283C>T	ENST00000274008.3	+	7	1375	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	436					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGCAAAGTTACGTCAGATATT	0.308000													7	230					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74472517	74472517	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:74472517C>T	ENST00000323940.5	-	19	2153	c.1908G>A	c.(1906-1908)agG>agA	p.R636R	STRA6_ENST00000563965.1_Silent_p.R675R|STRA6_ENST00000535552.1_Silent_p.R673R|STRA6_ENST00000449139.2_Silent_p.R636R|STRA6_ENST00000423167.2_Silent_p.R627R|STRA6_ENST00000416286.3_Silent_p.R628R|STRA6_ENST00000395105.4_Silent_p.R636R|STRA6_ENST00000574278.1_Silent_p.R651R|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	636					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCCAGCGAGCCCTGCCGCGGC	0.647000													60	145					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46773075	46773075	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:46773075G>T	ENST00000262738.3	-	24	7466	c.7467C>A	c.(7465-7467)ctC>ctA	p.L2489L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2489					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGCTCAGGAGGACGAAGG	0.602000													25	34					1.1804e-14	1.37779e-14	1	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30867899	30867899	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867899A>T	ENST00000251071.5	-	15	3394	c.2644T>A	c.(2644-2646)Tat>Aat	p.Y882N	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	882					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACCTTTATAACCACCAGGG	0.413000													51	110					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902430	247902430	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:247902430C>A	ENST00000283225.2	+	1	514	c.514C>A	c.(514-516)Cta>Ata	p.L172I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTCTGATGAGCTACATCAGTT	0.483000													53	242					4.33383e-22	5.27006e-22	1	1	0
ZNF214	7761	broad.mit.edu	37	11	7021161	7021161	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:7021161G>T	ENST00000278314.4	-	3	2068	c.1753C>A	c.(1753-1755)Cgt>Agt	p.R585S	ZNF214_ENST00000536068.1_Missense_Mutation_p.R585S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TAATATTCACGGCATTTGTAA	0.338000													13	72					0.0167234	0.0170159	1	1	0
WBP2NL	164684	broad.mit.edu	37	22	42415411	42415411	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42415411C>G	ENST00000328823.9	+	2	190	c.159C>G	c.(157-159)ctC>ctG	p.L53L		NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	53	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CATTGTTTCTCACTTCATACC	0.388000													37	97					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224904	45224904	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:45224904T>A	ENST00000279027.4	-	5	704	c.686A>T	c.(685-687)aAc>aTc	p.N229I	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000372121.1_Missense_Mutation_p.T207S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N182I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T207S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N182I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	229						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTTCCAGATGTTCCGACGATA	0.552000													31	102					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404341	220404341	+	Missense_Mutation	SNP	C	C	T	rs143750392	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220404341C>T	ENST00000243776.6	-	4	2340	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CHPF_ENST00000535926.1_Missense_Mutation_p.E536K	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	698						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTTCTTGTTCTGAG	0.637000													36	88					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651526	77651526	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:77651526G>A	ENST00000461745.1	+	20	3920	c.3020G>A	c.(3019-3021)aGc>aAc	p.S1007N	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1023N|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1007N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1007					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCCAACAGCATACATGAA	0.423000													20	48					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118314954	118314954	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:118314954T>G	ENST00000369221.2	+	8	774	c.746T>G	c.(745-747)gTg>gGg	p.V249G		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	249					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AATGGAGGAGTGGAAATGCCT	0.398000													18	126					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170033070	170033070	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:170033070C>T	ENST00000333572.6	-	21	2715	c.2196G>A	c.(2194-2196)cgG>cgA	p.R732R	WDR27_ENST00000448612.1_Silent_p.R732R|WDR27_ENST00000423258.1_Silent_p.R605R|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	702										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GATGGACAGGCCGTGAGTGGG	0.468000													4	36					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209851	10209851	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:10209851C>T	ENST00000418404.3	-	36	5554	c.5391G>A	c.(5389-5391)ctG>ctA	p.L1797L	MYH13_ENST00000570743.1_Silent_p.L1797L|MYH13_ENST00000252172.4_Silent_p.L1797L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1797					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						GACGGTGCTGCAGGTCCTTCA	0.557000													75	114					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457578	41457578	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:41457578G>T	ENST00000400454.1	-	23	4560	c.4083C>A	c.(4081-4083)gcC>gcA	p.A1361A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1361	Ig-like C2-type 10.				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)				AGTTGTTATTGGCAATGCAGC	0.393000													32	99					1.36161e-19	1.62741e-19	1	1	0
F13B	2165	broad.mit.edu	37	1	197026314	197026314	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:197026314C>A	ENST00000367412.1	-	7	1043	c.1000G>T	c.(1000-1002)Gta>Tta	p.V334L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	334	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCACAGGCTACCTTCTCCTGT	0.388000													22	89					3.10358e-05	3.29225e-05	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5727306	5727306	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:5727306A>G	ENST00000381624.3	+	3	215	c.154A>G	c.(154-156)Aca>Gca	p.T52A	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	52						integral to membrane											TCCTACAACAACACGCTTGAT	0.299000													11	141					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507937	155507937	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155507937G>A	ENST00000302053.3	-	5	722	c.644C>T	c.(643-645)tCt>tTt	p.S215F	FGA_ENST00000403106.3_Missense_Mutation_p.S215F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	215				SR -> RS (in Ref. 9; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTATCTCTAGAGGGAAGTAA	0.458000													11	129					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337083	57337083	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337083G>T	ENST00000374900.4	+	3	453	c.333G>T	c.(331-333)caG>caT	p.Q111H		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	111						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAGAGAAGCAGGAAGATGAAG	0.408000										HNSCC(52;0.14)			21	24					0.00188189	0.00194314	1	1	0
KIAA1524	57650	broad.mit.edu	37	3	108284262	108284262	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:108284262C>G	ENST00000295746.8	-	12	1531	c.1455G>C	c.(1453-1455)ttG>ttC	p.L485F	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.L326F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	485						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTGTTAATCAAATCAAGAG	0.289000													25	191					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15412049	15412049	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:15412049G>A	ENST00000217246.4	+	7	935		c.e7-1		MACROD2_ENST00000310348.4_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTATTCACAGGCATTTCCCT	0.333000													40	132					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20909266	20909266	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:20909266G>A	ENST00000263205.7	+	5	351	c.282G>A	c.(280-282)gcG>gcA	p.A94A	MED15_ENST00000406969.1_Silent_p.A68A|MED15_ENST00000541476.1_Silent_p.A68A|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Silent_p.A94A|MED15_ENST00000382974.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	94					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GACCTGCTGCGGGAGCCGCTG	0.622000													42	62					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170001043	170001043	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:170001043C>A	ENST00000367765.1	-	8	2206	c.705G>T	c.(703-705)caG>caT	p.Q235H	KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.Q275H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	275					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATAGCTGTTCCTGTTTTACCA	0.348000													46	237					9.22156e-22	1.11747e-21	1	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188050	70188050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:70188050C>T	ENST00000320256.4	-	1	1347	c.771G>A	c.(769-771)tgG>tgA	p.W257*		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	257	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCGCTGTATCCCAGACACCCA	0.557000													23	80					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131712	21131712	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21131712G>T	ENST00000601023.1	+	2	861	c.215G>T	c.(214-216)tGt>tTt	p.C72F	ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131F|ZNF85_ENST00000597314.1_3'UTR			Q03923	ZNF85_HUMAN	zinc finger protein 85	131	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.C131F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328000													34	109					6.90743e-12	7.85242e-12	1	1	0
KCNA3	3738	broad.mit.edu	37	1	111215769	111215769	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:111215769T>A	ENST00000369769.2	-	1	1886	c.1663A>T	c.(1663-1665)Acc>Tcc	p.T555S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	555						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGTGCAGGTGGCAGTGGAA	0.458000													46	116					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80576938	80576938	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:80576938G>C	ENST00000392325.4	-	7	879	c.685C>G	c.(685-687)Caa>Gaa	p.Q229E	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B									p.Q229E(1)									TTGGCTGCTTGAGATCCTCTT	0.463000													29	95					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746389	81746389	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:81746389A>G	ENST00000356860.3	-	6	835	c.497T>C	c.(496-498)gTc>gCc	p.V166A	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.V166A|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.V166A	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	166						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGAATATGGACTGCTGCGTG	0.418000													22	126					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027717	150027717	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:150027717C>G	ENST00000343855.4	+	1	780	c.224C>G	c.(223-225)aCc>aGc	p.T75S	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GTGCTGGCCACCTTGCTGGAC	0.607000													41	105					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33893746	33893746	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:33893746G>A	ENST00000389232.4	+	17	1985	c.1915G>A	c.(1915-1917)Gta>Ata	p.V639I	RYR3_ENST00000415757.3_Missense_Mutation_p.V639I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	639	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAACGATGTAACCAGGTA	0.507000													7	43					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650782	232650782	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:232650782G>A	ENST00000366630.1	-	2	662	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R102W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	102					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCTGAGACCGGCTTTCCCAC	0.522000													45	170					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687738	158687738	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158687738G>T	ENST00000368146.1	-	1	215	c.216C>A	c.(214-216)caC>caA	p.H72Q	OR6K3_ENST00000368145.1_Missense_Mutation_p.H56Q			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACATGGGGTTGTGGAGATGGG	0.383000													26	228					8.24728e-16	9.69125e-16	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108924006	108924006	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:108924006C>A	ENST00000263054.6	-	1	286	c.279G>T	c.(277-279)cgG>cgT	p.R93R	SORCS1_ENST00000344440.6_Silent_p.R93R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	93						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCCAGTGCCCCGAGCCCGCT	0.726000													3	11					0.115264	0.1166	1	1	0
ZNF391	346157	broad.mit.edu	37	6	27368981	27368981	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:27368981G>A	ENST00000244576.4	+	3	1377	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACCCCTATGAGTGCAGTGA	0.463000													9	41					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913681	158913681	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158913681A>T	ENST00000368140.1	+	6	1349	c.1104A>T	c.(1102-1104)aaA>aaT	p.K368N	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K368N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K359N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K359N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	368	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCTGTGAAAAAGGAGATAAGC	0.373000													27	59					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080816	6080816	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:6080816T>A	ENST00000199389.6	-	9	972	c.826A>T	c.(826-828)Agc>Tgc	p.S276C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S152C|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	276	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGATGAGCTGCTACTTTCA	0.393000													33	117					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619613	206619613	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:206619613C>G	ENST00000414007.1	+	14	1647	c.1647C>G	c.(1645-1647)gtC>gtG	p.V549V	SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	689	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGGCCCTGTCTACAGCAGAG	0.582000													47	169					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48443684	48443684	+	Missense_Mutation	SNP	G	G	A	rs80287989	by1000genomes	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:48443684G>A	ENST00000324324.7	-	13	1571	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	MYEF2_ENST00000267836.6_Missense_Mutation_p.S431F	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	431	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTACCAAAGGAATCTCCAAA	0.388000													95	225					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60580202	60580202	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:60580202G>A	ENST00000373886.3	+	20	2772	c.2768G>A	c.(2767-2769)aGg>aAg	p.R923K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	923	SAM.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTGGTGCCAGGAGGAAAATG	0.408000													11	107					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137051	200137051	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:200137051C>A	ENST00000443023.1	-	10	3373	c.1908G>T	c.(1906-1908)ctG>ctT	p.L636L	SATB2_ENST00000428695.1_Silent_p.L577L|SATB2_ENST00000417098.1_Silent_p.L695L|SATB2_ENST00000260926.5_Silent_p.L695L|SATB2_ENST00000457245.1_Silent_p.L695L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	695						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACTCGGTCAGCAGCTCCT	0.577000													18	115					1.33834e-09	1.4781e-09	1	1	0
DHX35	60625	broad.mit.edu	37	20	37657063	37657063	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:37657063G>T	ENST00000252011.3	+	19	1837	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	DHX35_ENST00000373323.4_Missense_Mutation_p.D571Y|DHX35_ENST00000373325.2_Missense_Mutation_p.D602Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	602						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTATGTAGGTGACCCGGATCT	0.552000													33	114					4.16155e-14	4.84126e-14	1	1	0
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:89417256G>C	ENST00000439576.2	+	17	7890		c.e17+1		ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Splice_Site	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657000													4	52					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	555112	555112	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:555112C>A	ENST00000329451.3	-	14	1836		c.e14-1			NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35											NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCGGCACACCTGGGGGGCGC	0.751000													8	19					5.18039e-06	5.52892e-06	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3084693	3084693	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084693A>T	ENST00000397461.1	+	21	2928	c.2544A>T	c.(2542-2544)gaA>gaT	p.E848D	CNTN4_ENST00000358480.3_Missense_Mutation_p.E629D|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520D|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848D|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACAAAGAAGAAAATGCTAGAA	0.353000													4	42					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144033316	144033316	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:144033316G>A	ENST00000427704.2	+	2	307	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PHACTR2_ENST00000305766.6_Silent_p.S59S|PHACTR2_ENST00000397980.3_Silent_p.S70S|PHACTR2_ENST00000440869.2_Silent_p.S70S|PHACTR2_ENST00000367582.3_Silent_p.S70S|PHACTR2_ENST00000367584.4_Silent_p.S127S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	59							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAGAAACCTCGGCAGGTATGA	0.348000													25	66					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157664	155157664	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157664A>G	ENST00000357232.3	-	25	6774	c.6775T>C	c.(6775-6777)Tac>Cac	p.Y2259H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2259	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTCTAAGTAAAAATGTCCC	0.383000													7	115					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40458300	40458300	+	Silent	SNP	G	G	T	rs141500114		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:40458300G>T	ENST00000345506.4	+	14	2157	c.1515G>T	c.(1513-1515)ccG>ccT	p.P505P	STAT5A_ENST00000588868.1_Silent_p.P474P|STAT5A_ENST00000546010.2_Silent_p.P475P|STAT5A_ENST00000587646.1_5'UTR|STAT5A_ENST00000590949.1_Silent_p.P505P|STAT5A_ENST00000452307.2_Silent_p.P505P	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	505					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCTGTGGCCGCAGCTGTGTG	0.547000													20	61					7.92952e-12	8.956e-12	1	1	0
UBFD1	56061	broad.mit.edu	37	16	23574002	23574002	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23574002G>A	ENST00000395878.3	+	5	1068	c.687G>A	c.(685-687)gtG>gtA	p.V229V	UBFD1_ENST00000567212.1_Silent_p.V220V|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.V453V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	229										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GAGGAAAAGTGAGACTCACCT	0.527000													24	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7577548C>A	ENST00000420246.2	-	7	865	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	46					1.36615e-20	1.64409e-20	1	1	0
PTPN21	11099	broad.mit.edu	37	14	88938785	88938785	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:88938785C>T	ENST00000556564.1	-	15	2958	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	PTPN21_ENST00000328736.3_Missense_Mutation_p.E892K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	892						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATTCCTTGTTCTAATCGTTGT	0.368000													12	36					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186158649	186158649	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:186158649G>T	ENST00000271588.4	+	107	16776	c.16547G>T	c.(16546-16548)tGc>tTc	p.C5516F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5516					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						CTTAGGTTCTGCCTCAAGAAC	0.428000													29	83					5.77227e-19	6.8755e-19	1	1	0
XKR7	343702	broad.mit.edu	37	20	30556151	30556151	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:30556151G>T	ENST00000217299.3	+	1	347	c.173G>T	c.(172-174)tGc>tTc	p.C58F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	58						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGACTGCTGCTGGGTGCTG	0.751000													9	30					0.00448238	0.00460103	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115438112	115438112	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:115438112A>G	ENST00000369522.3	+	16	1542	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	SYCP1_ENST00000369518.1_Silent_p.E434E	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	434					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGAACTTGAAGAATTGAAAA	0.274000													8	16					0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125780305	125780305	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:125780305G>A	ENST00000263576.6	+	7	709	c.554G>A	c.(553-555)cGt>cAt	p.R185H	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	185	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CAAACTGGCCGTGTGGTTGAG	0.478000													4	113					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964416	88964416	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:88964416G>A	ENST00000333190.4	+	4	2729	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	707						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTTTGAGTAGATATTCTTCC	0.408000										HNSCC(36;0.09)			21	59					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356179	121356179	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:121356179G>C	ENST00000339397.4	+	6	821	c.749G>C	c.(748-750)gGa>gCa	p.G250A		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGTGATGGCGGAGAAGAATTT	0.413000													47	97					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512000													9	1156					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934828	4934828	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4934828G>C	ENST00000345988.2	-	22	3917	c.3828C>G	c.(3826-3828)atC>atG	p.I1276M	PPL_ENST00000590782.2_Missense_Mutation_p.I1274M	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1276					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGCCTGGATTTCCTTTT	0.522000													58	192					0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30102828	30102828	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:30102828G>T	ENST00000585603.1	+	4	2646	c.344G>T	c.(343-345)aGt>aTt	p.S115I	POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.S34I			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	115					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GACCTGTGCAGTGGGCTCAAG	0.488000													21	76					6.21321e-17	7.32571e-17	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									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)		GAAATCTCTTTATAAAACCTT	0.343000													6	161					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515281	51515281	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:51515281C>A	ENST00000328188.1	+	1	0		c.e1-1			NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAGAAATACATGGAGAATA	0.269000													21	60					1.28384e-07	1.39583e-07	1	1	0
PCLO	27445	broad.mit.edu	37	7	82763692	82763692	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:82763692G>A	ENST00000423517.2	-	3	3511	c.3174C>T	c.(3172-3174)acC>acT	p.T1058T	PCLO_ENST00000333891.8_Silent_p.T1058T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1004					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGAGGACAGGTTGATTCTG	0.423000													5	27					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103191677	103191677	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:103191677A>T	ENST00000428762.1	-	41	6298	c.6139T>A	c.(6139-6141)Ttc>Atc	p.F2047I	RELN_ENST00000343529.5_Missense_Mutation_p.F2047I|RELN_ENST00000424685.2_Missense_Mutation_p.F2047I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2047					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCGCCCCGAAGTCCCTTGAA	0.532000													4	54					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395268	43395268	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:43395268T>C	ENST00000426263.3	-	6	1041	c.863A>G	c.(862-864)aAc>aGc	p.N288S	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	288					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACTCACAGCGTTGATGCCAGA	0.602000													15	30					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27239176	27239176	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:27239176G>A	ENST00000361042.4	+	4	370	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.E49K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	49					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAAACATGCTGAAGACATATT	0.433000													15	37					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704314	56704314	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704314G>A	ENST00000586855.2	-	2	421	c.108C>T	c.(106-108)caC>caT	p.H36H	ZSCAN5B_ENST00000358992.3_Silent_p.H36H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	36					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTTCCTGTCGTGATTTCCAA	0.562000													8	40					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8402701	8402701	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:8402701C>G	ENST00000360416.3	-	30	3976	c.3838G>C	c.(3838-3840)Gag>Cag	p.E1280Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1270Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1265Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1249Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1249					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCTCAGACTCAGCCTTGACC	0.567000													43	58					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211464276	211464276	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:211464276C>T	ENST00000233072.5	+	14	1736	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CPS1_ENST00000451903.2_Silent_p.L63L|CPS1_ENST00000430249.2_Silent_p.L520L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	514					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCAGACAGCTCTGAACTGTGG	0.428000													25	85					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101096680	101096680	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:101096680A>G	ENST00000537026.1	-	5	565	c.206T>C	c.(205-207)gTc>gCc	p.V69A	NXF5_ENST00000361708.2_Missense_Mutation_p.V69A|NXF5_ENST00000473265.2_Missense_Mutation_p.V69A	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	69	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTATAACTGACATCCTTCAA	0.498000													8	158					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267740	1267740	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1267740G>A	ENST00000339381.5	+	3	861	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	277					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTTCGCCTCCGTGCACGCCGC	0.672000													8	8					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322355	103322355	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:103322355T>C	ENST00000233969.2	+	11	2170	c.2028T>C	c.(2026-2028)ctT>ctC	p.L676L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	676						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATACGAAGCTTCCAGAAAAGC	0.308000													32	67					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116946	53116946	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:53116946C>T	ENST00000597597.1	-	2	3125	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	ZNF83_ENST00000545872.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.C291Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.C291Y|ZNF83_ENST00000391789.4_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACACTCATTACATTTGTAAGG	0.403000													15	212					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													8	14	---	---	---	---					
ESPNL	339768	broad.mit.edu	37	2	239013483	239013483	+	Splice_Site	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:239013483delG	ENST00000343063.3	+	3	935	c.672_splice	c.e3+1	p.L224_splice	ESPNL_ENST00000409169.1_Splice_Site_p.L224_splice	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	224										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCGTCTGGCTGGTAAGTGGGT	0.667													2	4	---	---	---	---					
MARCH3	115123	broad.mit.edu	37	5	126250792	126250792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:126250792delG	ENST00000308660.5	-	3	737	c.223delC	c.(223-225)acfs	p.H75fs	MARCH3_ENST00000515241.1_Frame_Shift_Del_p.H75fs|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	75					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CTGCCCTCGTGGCAGATCCTG	0.597													8	26	---	---	---	---					
CD2AP	23607	broad.mit.edu	37	6	47544293	47544295	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:47544293_47544295delCAG	ENST00000359314.5	+	7	1219_1221	c.763_765delCAG	c.(763-765)del	p.Q255del		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	255					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCCAAAACTCAGAGTGTGGAGA	0.300													28	201	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971008	21971008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:21971008delA	ENST00000579755.1	-	2	685	c.393delT	c.(391-393)ccfs	p.P131fs	CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P172fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P131fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L117fs*29(1)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTCCTCAGCCAGGTCCACGGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	33	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16893336	16893336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:16893336delC	ENST00000377833.4	-	60	9626	c.9561delG	c.(9559-9561)tgfs	p.W3187fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3187	CUB 24.				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)	CAATTATGATCCATACACAGT	0.388													26	101	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17165674	17165675	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:17165674_17165675insT	ENST00000377833.4	-	5	466_467	c.401_402insA	c.(400-402)agtfs	p.S134fs	CUBN_ENST00000377823.1_Frame_Shift_Ins_p.S134fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	134	EGF-like 1.				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)	TGCTGCAAACCTTTTTGTCAAC	0.446													7	30	---	---	---	---					
OR5AP2	338675	broad.mit.edu	37	11	56409571	56409571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56409571delC	ENST00000544374.1	-	1	376	c.348delG	c.(346-348)ggfs	p.G116fs	OR5AP2_ENST00000302981.1_Frame_Shift_Del_p.G115fs			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGCACTCAGTCCCCAGGAAGG	0.512													7	49	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61188974	61188983	+	Frame_Shift_Del	DEL	GGAGGAGGTG	GGAGGAGGTG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:61188974_61188983delGGAGGAGGTG	ENST00000340437.4	-	3	361_370	c.281_290delCACCTCCTCC	c.(280-291)ctfs	p.PPPP94fs	CPSF7_ENST00000541963.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000394888.4_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.PPPP51fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	51	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	p.P53P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGGTTCAGTGCT	0.524													12	52	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													7	1048	---	---	---	---					
APAF1	317	broad.mit.edu	37	12	99056538	99056538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:99056538delG	ENST00000357310.1	+	7	1486	c.909delG	c.(907-909)aafs	p.K303fs	APAF1_ENST00000339433.3_Frame_Shift_Del_p.K303fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K292fs|APAF1_ENST00000552268.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K292fs|APAF1_ENST00000333991.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K303fs	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	303	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATGAAGAAGGCAGATTTGC	0.323													13	59	---	---	---	---					
TMC3	342125	broad.mit.edu	37	15	81625365	81625366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:81625365_81625366insT	ENST00000558726.1	-	22	2835_2836	c.2700_2701insA	c.(2698-2703)aaatctfs	p.S901fs	TMC3_ENST00000359440.5_Frame_Shift_Ins_p.S900fs|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	900						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						ACATTTAGATGTTTTTTCTTGT	0.510													15	139	---	---	---	---					
STX4	6810	broad.mit.edu	37	16	31045645	31045648	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:31045645_31045648delGAGT	ENST00000394998.1	+	4	568_569	c.226_splice	c.e4+1	p.E75_splice	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Splice_Site_p.E77_splice	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	77					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTCCCGAGGAGAGTGAGTGAAACC	0.598													32	122	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	35	---	---	---	---					
LOC100294341	100294341	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													7	66	---	---	---	---					
ZNF573	126231	broad.mit.edu	37	19	38229927	38229927	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:38229927delA	ENST00000339503.4	-	8	1791	c.1290delT	c.(1288-1290)cafs	p.H430fs	ZNF573_ENST00000590414.2_Frame_Shift_Del_p.H488fs|ZNF573_ENST00000392138.1_Frame_Shift_Del_p.H401fs|ZNF573_ENST00000357309.3_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000536220.1_Frame_Shift_Del_p.H400fs	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTCCGATGTTGAATAA	0.373													46	118	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													7	9	---	---	---	---					
ZNF135	7694	broad.mit.edu	37	19	58573073	58573073	+	Splice_Site	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:58573073delG	ENST00000506786.1	+	3	587	c.34_splice	c.e3+1	p.V11_splice	ZNF135_ENST00000511556.1_Splice_Site_p.V53_splice|ZNF135_ENST00000401053.4_Splice_Site_p.V65_splice|ZNF135_ENST00000439855.2_Splice_Site_p.V53_splice|ZNF135_ENST00000359978.6_Splice_Site_p.V65_splice|ZNF135_ENST00000313434.5_Splice_Site_p.V53_splice			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	53					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGGTCTCTGTGGGTAAGGCCA	0.507													41	148	---	---	---	---					
