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
PRX	57716	broad.mit.edu	37	19	40902083	40902083	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:40902083C>G	ENST00000324001.7	-	7	2446	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	726	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTTTTATCTCTGGGAGCTTC	0.577000													31	112					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44196143	44196143	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:44196143C>T	ENST00000395510.2	-	3	357	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TWF1_ENST00000325127.4_Silent_p.Q110Q|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000548315.1_Silent_p.Q76Q|TWF1_ENST00000547564.1_5'UTR	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	76	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCTGGGCATTCTGAGAATCTA	0.353000													15	66					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054835	18054835	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:18054835C>G	ENST00000250018.2	-	3	950	c.388G>C	c.(388-390)Gat>Cat	p.D130H	TPH1_ENST00000341556.2_Missense_Mutation_p.D130H	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	130					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTCTGCATCTAGTTCAGAT	0.423000													29	116					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105686426	105686426	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:105686426C>G	ENST00000546474.1	-	12	16316	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	BRF1_ENST00000392557.4_Missense_Mutation_p.D249H|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.D338H|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000446501.2_Missense_Mutation_p.D215H|BRF1_ENST00000327359.3_Missense_Mutation_p.D338H|BRF1_ENST00000379937.2_Missense_Mutation_p.D426H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	453					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCAGGTCATCAATGCCACTG	0.627000													4	26					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984723	158984723	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:158984723G>C	ENST00000295809.7	+	2	508	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	IFI16_ENST00000359709.3_Missense_Mutation_p.E85Q|IFI16_ENST00000368131.4_Missense_Mutation_p.E85Q|IFI16_ENST00000448393.2_Missense_Mutation_p.E85Q|IFI16_ENST00000368132.3_Missense_Mutation_p.E85Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E85Q|IFI16_ENST00000430894.2_Missense_Mutation_p.E89Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	85	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCTTAAAAAAGAAAAGTTAAA	0.438000													16	45					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895736	41895736	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:41895736C>G	ENST00000396512.3	+	2	60	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ACO2_ENST00000216254.4_Missense_Mutation_p.L15V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	15					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCAGAAAGCTCTGGGTGTGCG	0.527000													46	151					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382114	27382114	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:27382114G>A	ENST00000323372.4	+	6	1167	c.841G>A	c.(841-843)Gag>Aag	p.E281K	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	281					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CGCAGACCCTGAGGAGCGGGA	0.607000													9	37					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094372	21094372	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:21094372C>T	ENST00000395511.3	+	7	1204	c.884C>T	c.(883-885)tCc>tTc	p.S295F	DHRS7B_ENST00000579303.1_Missense_Mutation_p.S280F|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	295						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TTACTGCCTTCCTTGGCTGTT	0.547000													23	70					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1906030	1906030	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:1906030A>G	ENST00000503128.1	+	3	892	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	WHSC1_ENST00000420906.2_Missense_Mutation_p.K229E|WHSC1_ENST00000398261.1_Missense_Mutation_p.K229E|WHSC1_ENST00000436793.1_Missense_Mutation_p.K229E|WHSC1_ENST00000508803.1_Missense_Mutation_p.K229E|WHSC1_ENST00000514045.1_Missense_Mutation_p.K229E|WHSC1_ENST00000382892.2_Missense_Mutation_p.K229E|WHSC1_ENST00000382891.5_Missense_Mutation_p.K229E|WHSC1_ENST00000382895.3_Missense_Mutation_p.K229E			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	229	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGTGTGGTCCAAAGTGTCGGG	0.428000			T	IGH@	MM								15	44					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57076776	57076776	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:57076776C>A	ENST00000376149.3	-	23	3183	c.2374G>T	c.(2374-2376)Gat>Tat	p.D792Y	TRIM37_ENST00000393065.2_Missense_Mutation_p.D919Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D953Y|TRIM37_ENST00000262294.7_Missense_Mutation_p.D953Y			O94972	TRI37_HUMAN	tripartite motif containing 37	953						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGCTGAGATCTTCAGGGCCT	0.343000									Mulibrey Nanism				12	88					8.81451e-21	1.01486e-20	1	1	0
HERC2	8924	broad.mit.edu	37	15	28358394	28358394	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:28358394G>C	ENST00000261609.7	-	92	14163	c.14055C>G	c.(14053-14055)ctC>ctG	p.L4685L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4685	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACCGACTTGAGAAGGTGCA	0.592000													5	14					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67208697	67208697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:67208697C>A	ENST00000393893.1	-	7	758	c.655G>T	c.(655-657)Gag>Tag	p.E219*	CORO1B_ENST00000453768.2_Nonsense_Mutation_p.E219*|CORO1B_ENST00000341356.5_Nonsense_Mutation_p.E219*	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	219					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGGCCCCCTCATGAGCCTTC	0.672000													16	66					1.33834e-09	1.49249e-09	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30374437	30374437	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:30374437G>C	ENST00000333027.3	+	4	338	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.E4Q|MTMR3_ENST00000406629.1_Missense_Mutation_p.E4Q|MTMR3_ENST00000401950.2_Missense_Mutation_p.E4Q|MTMR3_ENST00000415511.1_3'UTR	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	4					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCAGGATGAAGAGACTCGGCA	0.413000													11	38					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107594060	107594060	+	Silent	SNP	G	G	C	rs138741168		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:107594060G>C	ENST00000393561.1	-	20	3250	c.3066C>G	c.(3064-3066)ctC>ctG	p.L1022L	LAMB1_ENST00000222399.6_Silent_p.L998L			P07942	LAMB1_HUMAN	laminin, beta 1	998	Laminin EGF-like 10.		Q -> R (in dbSNP:rs20556).		axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGGCACTTGAGACACCTCC	0.527000													22	37					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203412	140203412	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:140203412C>T	ENST00000529859.1	+	1	2052	c.2052C>T	c.(2050-2052)ggC>ggT	p.G684G	PCDHA5_ENST00000529619.1_Silent_p.G684G|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.G684G	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCGGGCGCTGTGGGTC	0.662000													14	38					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505696	32505696	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:32505696C>G	ENST00000520502.2	+	1	460	c.460C>G	c.(460-462)Caa>Gaa	p.Q154E	NRG1_ENST00000405005.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	625					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAGTGAGGTTCAAGTTACAGT	0.498000													14	43					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901822	40901822	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:40901822C>G	ENST00000324001.7	-	7	2707	c.2437G>C	c.(2437-2439)Gag>Cag	p.E813Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	813					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATGGGGACTCTGCCCTCCCT	0.592000													10	44					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127570148	127570148	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:127570148G>A	ENST00000373580.3	+	7	1257	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	OLFML2A_ENST00000288815.5_Missense_Mutation_p.M205I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	419	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGCCTGGATGAAGGACCCTG	0.602000													33	26					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496185	76496185	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:76496185C>G	ENST00000388942.3	+	11	1401	c.1125C>G	c.(1123-1125)ctC>ctG	p.L375L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	375						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACATGCCCCTCAAACTCGGCG	0.632000													13	53					0	0	1	0	0
EXOSC8	11340	broad.mit.edu	37	13	37580265	37580265	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:37580265C>G	ENST00000389704.3	+	7	623	c.358C>G	c.(358-360)Cag>Gag	p.Q120E	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		ACAGATAATTCAGAAAGAGGA	0.313000													7	25					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388000													3	69					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150773875	150773875	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:150773875G>C	ENST00000297532.6	-	10	1664	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Silent_p.L388L|FASTK_ENST00000482571.1_Silent_p.L502L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	529	RAP.				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGTAGCTCTTGAGCTGGGGCA	0.677000													4	11					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451168	155451168	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:155451168C>A	ENST00000368346.3	-	3	2132	c.1493G>T	c.(1492-1494)gGa>gTa	p.G498V	ASH1L_ENST00000392403.3_Missense_Mutation_p.G498V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	498					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATGCATGTTCCTTCATTAAA	0.363000													6	59					5.18039e-06	5.60113e-06	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597038	136597038	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:136597038G>C	ENST00000531224.1	-	5	1877	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S542C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S540C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S369C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S540C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S540C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	542					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)		AGGACGGTGAGAATCACTCGC	0.428000													27	158					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601982	135601982	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:135601982T>G	ENST00000513104.1	-	5	1553	c.1271A>C	c.(1270-1272)tAc>tCc	p.Y424S	TRPC7_ENST00000355180.3_Missense_Mutation_p.Y363S|TRPC7_ENST00000426057.2_Missense_Mutation_p.Y308S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	424					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGTTTTGGGTAGTCTGTGAA	0.388000													20	64					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66981075	66981075	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:66981075G>C	ENST00000340001.4	-	34	4541	c.4330C>G	c.(4330-4332)Ctg>Gtg	p.L1444V	ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.L1406V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1444	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGCTCATCCAGAAGCACCACT	0.572000													9	50					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309113	38309113	+	Missense_Mutation	SNP	G	G	A	rs142524025		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr21:38309113G>A	ENST00000399120.1	-	5	1862	c.632C>T	c.(631-633)aCg>aTg	p.T211M	HLCS_ENST00000336648.4_Missense_Mutation_p.T211M	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	211					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACAGTTGTCCGTCCACGGGTC	0.547000													6	30					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087666	49087666	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:49087666G>A	ENST00000261900.3	-	9	1553	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	444					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGGGTTTTCTGAACCCTCTAT	0.448000													12	42					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67161150	67161150	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:67161150G>A	ENST00000269081.4	-	27	4146	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1079					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGGAAGGTATGAAAATCATGC	0.338000													7	36					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236749123	236749123	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:236749123C>A	ENST00000366582.3	-	16	2160	c.2046G>T	c.(2044-2046)aaG>aaT	p.K682N	HEATR1_ENST00000366581.2_Missense_Mutation_p.K682N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	682					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACTTACCATCTTTAACATTG	0.323000													4	37					0.00024832	0.000255518	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10586763	10586763	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:10586763G>C	ENST00000265012.4	+	1	785	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	181						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGTCGCCTCTGAGGTTCCCTG	0.468000													27	64					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149901029	149901029	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:149901029C>T	ENST00000445323.2	+	10	1028	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	MTMR1_ENST00000542156.1_Missense_Mutation_p.H295Y|MTMR1_ENST00000451863.2_Missense_Mutation_p.H295Y|MTMR1_ENST00000541925.1_Missense_Mutation_p.H201Y|MTMR1_ENST00000538506.1_Missense_Mutation_p.H182Y|MTMR1_ENST00000544228.1_Missense_Mutation_p.H295Y|MTMR1_ENST00000370390.3_Missense_Mutation_p.H295Y			Q13613	MTMR1_HUMAN	myotubularin related protein 1	295	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGGATTCATCCGGAAAG	0.393000													7	29					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Missense_Mutation	SNP	C	C	G	rs144123569	by1000genomes	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:32475708C>G	ENST00000404025.2	-	5	1713	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	NLRC4_ENST00000360906.5_Missense_Mutation_p.E409Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.E409Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473000													4	11					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807033	143807033	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:143807033G>A	ENST00000408979.2	+	1	427	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GATGTCCTATGATAGGTATGT	0.468000													15	90					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164756871	164756871	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:164756871C>T	ENST00000264382.3	-	20	2358	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	766	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTACAGATTCATAATCATAC	0.294000										HNSCC(35;0.089)			7	25					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3629108	3629108	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:3629108A>C	ENST00000325418.4	+	1	1898	c.1879A>C	c.(1879-1881)Agc>Cgc	p.S627R	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	627	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TACTGCAAAGAGCATTCTACA	0.488000													9	48					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25502708	25502708	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:25502708C>A	ENST00000330688.4	+	2	603	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.S68Y|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	68	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGCACCAGCTCTGAGGAACTC	0.458000													17	49					3.41278e-10	3.82591e-10	1	1	0
NKX2-4	644524	broad.mit.edu	37	20	21376858	21376858	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:21376858C>T	ENST00000351817.4	-	2	1384	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	252					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GCTGCTGCGCCGCCTTGTCCT	0.701000													4	8					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100048496	100048496	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:100048496C>T	ENST00000508393.1	-	8	1066		c.e8-1		ADH4_ENST00000505590.1_Splice_Site|ADH4_ENST00000423445.1_Splice_Site|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Splice_Site			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide						alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGGCTGCTTTCTGTGATGGAG	0.413000													9	21					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877614	2877614	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:2877614G>A	ENST00000586426.1	+	4	742	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E220K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CTCTCTCACTGAACATGTAAG	0.493000													12	30					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422581	17422581	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:17422581A>T	ENST00000470360.1	+	14	2137	c.2020A>T	c.(2020-2022)Att>Ttt	p.I674F	SLC7A2_ENST00000522656.1_Missense_Mutation_p.I635F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.I674F|SLC7A2_ENST00000494857.1_Missense_Mutation_p.I635F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.I675F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	635					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAAATCTGCCATTCAAGCAAA	0.428000													5	26					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52527932	52527932	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:52527932G>C	ENST00000261839.7	-	23	3058	c.2897C>G	c.(2896-2898)tCa>tGa	p.S966*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	966						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCCAGTTCTGAATTATGCTT	0.403000													15	84					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43820140	43820140	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:43820140G>C	ENST00000282059.6	+	3	1259	c.885G>C	c.(883-885)ctG>ctC	p.L295L	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	295										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TAGAGGAGCTGAATGCAGAGG	0.527000													6	23					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94861310	94861310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:94861310G>T	ENST00000358746.2	-	14	1500	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	401							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCATCAAATGAACCTTTGTT	0.333000													48	145					1.80625e-27	2.10236e-27	1	1	0
WNK2	65268	broad.mit.edu	37	9	96021516	96021516	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:96021516G>T	ENST00000297954.4	+	11	2686	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	WNK2_ENST00000395477.2_Missense_Mutation_p.A896S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A508S|WNK2_ENST00000427277.2_Missense_Mutation_p.A508S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	896					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGCGTGGCTGCCCTGTCCAT	0.692000													9	10					2.17888e-05	2.31472e-05	1	1	0
PRKCI	5584	broad.mit.edu	37	3	169999702	169999702	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:169999702G>A	ENST00000295797.4	+	11	1318	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	338	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTAAATGGAGGAGACCTAATG	0.363000													29	116					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68334800	68334800	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:68334800C>A	ENST00000297770.4	-	11	1468	c.1253G>T	c.(1252-1254)tGt>tTt	p.C418F	CPA6_ENST00000297769.4_Missense_Mutation_p.C174F	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	418					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGTTTCTGTACAGGTGGGTTT	0.433000													62	83					1.3268e-25	1.5401e-25	1	1	0
UPF2	26019	broad.mit.edu	37	10	11994141	11994141	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:11994141C>G	ENST00000356352.2	-	14	3431	c.2958G>C	c.(2956-2958)aaG>aaC	p.K986N	UPF2_ENST00000397053.2_Missense_Mutation_p.K986N|UPF2_ENST00000357604.5_Missense_Mutation_p.K986N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	986	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGAGTTTGATCTTTGGTCTTA	0.368000													26	52					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127983807	127983807	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:127983807G>A	ENST00000223073.2	-	1	155	c.41C>T	c.(40-42)tCg>tTg	p.S14L	RBM28_ENST00000415472.2_Missense_Mutation_p.S14L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 1.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACTGCGGGCCGAGGGCGGGAG	0.657000													4	17					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154898202	154898202	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:154898202G>A	ENST00000460393.1	+	23	2327	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	MME_ENST00000360490.2_Missense_Mutation_p.R736H|MME_ENST00000462745.1_Missense_Mutation_p.R736H|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.R736H|MME_ENST00000493237.1_Missense_Mutation_p.R736H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	736					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTCACTGCCGCAAGAATTCA	0.428000													14	164					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89977038	89977038	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:89977038C>T	ENST00000263347.7	+	15	1531	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TCF25_ENST00000263346.8_Silent_p.F613F|RP11-566K11.7_ENST00000570217.1_RNA			Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	0					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTGCTCTCTTCTTCCGGTCAC	0.527000											OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	49					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409882	56409882	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:56409882G>C	ENST00000544374.1	-	1	65	c.37C>G	c.(37-39)Caa>Gaa	p.Q13E	OR5AP2_ENST00000302981.1_Missense_Mutation_p.Q12E			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	12					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						ACTTCTGTTTGATTTCTGCCT	0.383000													12	36					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44402978	44402978	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:44402978C>G	ENST00000342649.4	+	4	714	c.287C>G	c.(286-288)tCc>tGc	p.S96C	TCAIM_ENST00000417237.1_Missense_Mutation_p.S96C	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2			T cell activation inhibitor, mitochondrial																		GACCAGAGTTCCTCCGATGGC	0.383000													11	55					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19089537	19089537	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:19089537C>G	ENST00000380502.3	-	5	924	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E17Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	153					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTAAATGTCTCTACAAAATGA	0.358000													10	20					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159188083	159188083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:159188083G>A	ENST00000367075.3	-	14	1792	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	EZR_ENST00000392177.4_Nonsense_Mutation_p.R510*|EZR_ENST00000337147.7_Nonsense_Mutation_p.R542*	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	542	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCTCATCTCGGGCCTGGGAC	0.567000			T	ROS1	NSCLC								22	57					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56649180	56649180	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:56649180G>C	ENST00000394672.3	+	12	1661	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	CCDC66_ENST00000326595.7_Missense_Mutation_p.E497Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.E531Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	531										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAGACAAATGAGCTATTCCA	0.378000													9	24					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504318	220504318	+	Silent	SNP	C	C	G	rs145344574		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:220504318C>G	ENST00000358055.3	+	20	3650	c.3138C>G	c.(3136-3138)ctC>ctG	p.L1046L	SLC4A3_ENST00000373760.2_Silent_p.L1046L|SLC4A3_ENST00000317151.3_Silent_p.L1046L|SLC4A3_ENST00000373762.3_Silent_p.L1073L|SLC4A3_ENST00000273063.6_Silent_p.L1073L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1046	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCTGGCTCACGGCTGCCA	0.652000													7	22					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57076800	57076800	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:57076800C>G	ENST00000376149.3	-	23	3159	c.2350G>C	c.(2350-2352)Gat>Cat	p.D784H	TRIM37_ENST00000393065.2_Missense_Mutation_p.D911H|TRIM37_ENST00000393066.3_Missense_Mutation_p.D945H|TRIM37_ENST00000262294.7_Missense_Mutation_p.D945H			O94972	TRI37_HUMAN	tripartite motif containing 37	945						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGTTCACCATCAGGAAAACTG	0.323000									Mulibrey Nanism				9	76					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15692735	15692735	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:15692735C>G	ENST00000396368.3	-	26	5166	c.4960G>C	c.(4960-4962)Gag>Cag	p.E1654Q	KIAA0430_ENST00000540441.2_Missense_Mutation_p.E1489Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E1651Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E1651Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E1342Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E1654Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1653						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGCGCTCCTCAAACTGAATG	0.537000													12	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059418	9059418	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:9059418G>C	ENST00000397910.4	-	3	28231	c.28028C>G	c.(28027-28029)tCa>tGa	p.S9343*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9345	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						GGAGGTGTCTGATGACATTGT	0.512000													19	47					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868915	117868915	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:117868915C>A	ENST00000297338.2	-	7	1071	c.784G>T	c.(784-786)Gac>Tac	p.D262Y		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	262					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCCATATCGTCATGTGCAGGC	0.428000													55	63					2.12129e-23	2.45562e-23	1	1	0
GABRR3	200959	broad.mit.edu	37	3	97744436	97744436	+	RNA	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:97744436A>G	ENST00000472788.1	-	0	214					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TCATTGCGAAATCGTTGTCCT	0.393000													5	22					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119639	3119639	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:3119639C>A	ENST00000304094.1	+	1	725	c.725C>A	c.(724-726)tCc>tAc	p.S242Y		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ACCTGTGGTTCCCACCTCACG	0.478000													20	64					7.45023e-12	8.41856e-12	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52344486	52344486	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:52344486C>G	ENST00000296585.5	+	6	659	c.516C>G	c.(514-516)ctC>ctG	p.L172L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	172					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCCTTCCCTCATAGATGTTG	0.393000													31	83					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009216	120009216	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:120009216C>T	ENST00000371311.3	-	1	563	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	103										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGAAGTTGGCCGcctcgttcc	0.687000													4	8					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98512581	98512581	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:98512581C>T	ENST00000265261.6	+	10	1040	c.618C>T	c.(616-618)ctC>ctT	p.L206L	ST3GAL6_ENST00000483910.1_Silent_p.L324L|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.L324L	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	324					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAAAAACCTCGTAATCAACT	0.328000													11	42					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736334	4736334	+	Silent	SNP	A	A	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:4736334A>T	ENST00000545990.2	-	5	2258	c.1734T>A	c.(1732-1734)atT>atA	p.I578I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Silent_p.I578I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	578					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTCACCTACAATGGGAGCAG	0.473000													17	69					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733362	92733362	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:92733362G>C	ENST00000379958.2	-	3	2318	c.2049C>G	c.(2047-2049)ttC>ttG	p.F683L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	683						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACCTCGATAGAAGTCTTCCT	0.368000													23	123					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58482422	58482422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:58482422C>A	ENST00000357552.3	-	15	1255	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.E344*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	344					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTAATACCTTCAATGCTGTAT	0.299000													8	15					3.09899e-07	3.40249e-07	1	1	0
GPR97	222487	broad.mit.edu	37	16	57717997	57717997	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:57717997C>A	ENST00000333493.4	+	9	1196	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.F225L|GPR97_ENST00000327655.6_Missense_Mutation_p.F135L	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	345					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCTGTCTTCCACTACTTCC	0.592000													9	38					1.12685e-05	1.2031e-05	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230656916	230656916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:230656916C>A	ENST00000283943.5	-	27	4121	c.3943G>T	c.(3943-3945)Gaa>Taa	p.E1315*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.E1363*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.E1045*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1315					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCGCTGTCTTCATCATCTTCT	0.373000													32	78					2.20474e-14	2.51801e-14	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385561	58385561	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:58385561C>G	ENST00000435989.2	-	3	1431	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	399					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGTGAACTCTCTGATGATTAC	0.398000													3	4					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	60					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126156751	126156751	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:126156751C>T	ENST00000261366.5	+	7	1671	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	437	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CATTCCGCCTCAGCCACTGGA	0.418000													16	68					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642246	24642246	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:24642246C>G	ENST00000311457.3	+	4	863	c.264C>G	c.(262-264)ctC>ctG	p.L88L	REC8_ENST00000559919.1_Silent_p.L88L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	88					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCCAGTACCTCGTGGGTAAGG	0.627000													6	40					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132742	161132742	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:161132742C>G	ENST00000368002.3	+	7	1304	c.927C>G	c.(925-927)ctC>ctG	p.L309L	USP21_ENST00000368001.1_Silent_p.L309L|USP21_ENST00000289865.8_Silent_p.L309L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	309					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAAGCTCCTCATGGAGCGGC	0.597000													7	25					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162668	29162668	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:29162668G>C	ENST00000321990.4	+	2	1947	c.1569G>C	c.(1567-1569)agG>agC	p.R523S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	523					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAAGACAAAGGAAAACAGAGT	0.313000													27	79					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61345206	61345206	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:61345206G>C	ENST00000402291.1	+	20	2224	c.1983G>C	c.(1981-1983)atG>atC	p.M661I	KIAA1841_ENST00000295031.5_Missense_Mutation_p.M661I|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M661I|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M661I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	661										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TAATAAAAATGAGATTGGGGG	0.343000													7	15					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1336I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTTGAAGAGAGGAGGATCT	0.428000													18	82					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043969	7043969	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:7043969G>T	ENST00000310085.4	-	1	759	c.697C>A	c.(697-699)Cgt>Agt	p.R233S	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	233										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AGCAGGGAACGGTACTGGTCC	0.632000													11	32					5.50884e-06	5.92617e-06	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128868268	128868268	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:128868268C>G	ENST00000310343.9	-	11	1098	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E18Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E293Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E18Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	367					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AACACCCTCTCTTTCAAGATT	0.418000													22	76					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133187	119133187	+	Missense_Mutation	SNP	C	C	A	rs34762342		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:119133187C>A	ENST00000264245.4	+	12	2943	c.2411C>A	c.(2410-2412)cCg>cAg	p.P804Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	804					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAGGGCGGCCCGGAAAGAGAA	0.562000													12	32					0.000151284	0.000158347	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87049354	87049354	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:87049354C>T	ENST00000265723.4	-	19	2465	c.2354G>A	c.(2353-2355)aGa>aAa	p.R785K	ABCB4_ENST00000359206.3_Missense_Mutation_p.R785K|ABCB4_ENST00000358400.3_Missense_Mutation_p.R785K|ABCB4_ENST00000545634.1_Missense_Mutation_p.R785K|ABCB4_ENST00000453593.1_Missense_Mutation_p.R785K	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	785	ABC transmembrane type-1 2.				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)					CCGCAGTCTTCTGGTGAGGAT	0.433000													16	59					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782763	134782763	+	Silent	SNP	C	C	T	rs142525704		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:134782763C>T	ENST00000503143.2	-	1	275	c.36G>A	c.(34-36)tcG>tcA	p.S12S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	12						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGCTTCTCGAGTTCTGTA	0.542000													5	24					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28352178	28352178	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:28352178C>T	ENST00000344773.2	+	7	749	c.611C>T	c.(610-612)tCt>tTt	p.S204F	BRE_ENST00000361704.2_Missense_Mutation_p.S204F|BRE_ENST00000342045.2_Missense_Mutation_p.S204F|BRE_ENST00000379632.2_Missense_Mutation_p.S204F|BRE_ENST00000379624.1_Missense_Mutation_p.S204F	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	204					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCCCTCCTCTCTGTTAGTTTT	0.453000													13	79					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12829901	12829901	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:12829901G>A	ENST00000425528.1	-	5	624	c.267C>T	c.(265-267)atC>atT	p.I89I	TNPO2_ENST00000441499.1_Silent_p.I89I|TNPO2_ENST00000356861.5_Silent_p.I89I|TNPO2_ENST00000450764.2_Silent_p.I89I|TNPO2_ENST00000592287.1_Silent_p.I89I|TNPO2_ENST00000588216.1_Silent_p.I89I|TNPO2_ENST00000589956.1_5'UTR			O14787	TNPO2_HUMAN	transportin 2	89	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCCTGTTTGATGAAGTCTG	0.572000													18	53					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440705	99440705	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:99440705C>T	ENST00000287042.4	+	2	848	c.498C>T	c.(496-498)ctC>ctT	p.L166L	KCNS2_ENST00000521839.1_Silent_p.L166L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCAGCCCCTCGGCAACTTCC	0.602000													7	20					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74422185	74422185	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:74422185G>T	ENST00000334571.2	+	3	370	c.330G>T	c.(328-330)atG>atT	p.M110I	COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.M85I|COQ6_ENST00000554920.1_Missense_Mutation_p.M110I|COQ6_ENST00000238709.4_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	110					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TCTGCAACATGAGATACAGAG	0.468000													14	45					0.00400662	0.00406386	1	1	0
CHRNB1	1140	broad.mit.edu	37	17	7350839	7350839	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:7350839C>T	ENST00000306071.2	+	6	547	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CHRNB1_ENST00000576360.1_Silent_p.F88F|CHRNB1_ENST00000536404.2_Silent_p.F88F	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	160					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ACTTCCCCTTCGACTGGCAGA	0.592000													9	26					0	0	1	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212515547	212515547	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:212515547C>G	ENST00000261461.2	+	4	1072	c.498C>G	c.(496-498)ttC>ttG	p.F166L	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F109L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	166					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATGAATTCTTCTTGAGATTTT	0.343000													21	67					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143094902	143094902	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:143094902G>A	ENST00000513000.1	-	17	1675	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	INPP4B_ENST00000509777.1_Silent_p.L414L|INPP4B_ENST00000508116.1_Silent_p.L414L|INPP4B_ENST00000308502.4_Silent_p.L414L|INPP4B_ENST00000262992.4_Silent_p.L414L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	414					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGATGTTGCTGAGAACTTCCT	0.383000													9	45					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85438956	85438956	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:85438956G>C	ENST00000359152.5	-	1	115	c.116C>G	c.(115-117)tCt>tGt	p.S39C	SYTL2_ENST00000528231.1_Missense_Mutation_p.S481C|SYTL2_ENST00000316356.4_Missense_Mutation_p.S482C|SYTL2_ENST00000389960.4_Missense_Mutation_p.S481C|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.S433C|SYTL2_ENST00000524452.1_Missense_Mutation_p.S481C	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	481	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACGGTCTCTAGAACTGCCACC	0.453000													4	22					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124801928	124801928	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:124801928C>G	ENST00000334705.7	+	15	1600	c.1354C>G	c.(1354-1356)Ctg>Gtg	p.L452V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L452V	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	452										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATACTGTTTCTGCGTCATAA	0.358000													18	58					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55339521	55339521	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:55339521A>G	ENST00000284073.2	+	5	489	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	MSI2_ENST00000416426.2_Missense_Mutation_p.K72E|MSI2_ENST00000322684.3_Missense_Mutation_p.K90E	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	94	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GATTGACCCCAAAGTTGCATT	0.338000			T	HOXA9	CML								12	56					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985536	72985536	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:72985536G>A	ENST00000305632.5	-	6	1102	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TBL2_ENST00000432538.1_Silent_p.F251F|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	287										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGTCGTTGGAGAAAGCAAACG	0.562000													12	13					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555023	44555023	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:44555023G>A	ENST00000330682.2	-	1	1426	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	397	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AGTCCTGGAGGCAATGAATCC	0.577000													5	208					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672396	45672396	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:45672396G>A	ENST00000308064.2	-	4	748	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	26					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACTTGGCGGTGAAGGTGCGGA	0.657000													9	21					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33595366	33595366	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:33595366C>T	ENST00000252015.2	-	14	1762	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R519Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R550Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R160Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	558					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAAGAGGCCTCGCTTCAGCAG	0.587000													7	21					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642120	24642120	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:24642120C>G	ENST00000311457.3	+	4	737	c.138C>G	c.(136-138)ctC>ctG	p.L46L	REC8_ENST00000559919.1_Silent_p.L46L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	46					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGGAAATCCTCAATTACGTGC	0.642000													9	20					0	0	1	0	0
RP11-701H24.10	0	broad.mit.edu	37	15	25287179	25287179	+	RNA	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:25287179C>T	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							AGATGTCAATCTGAGGTCCAG	0.483000													6	12					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3615025	3615025	+	RNA	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:3615025C>G	ENST00000301749.7	-	0	418				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCGCACCTCTTGCTTCCTC	0.672000													6	5					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230661311	230661311	+	Missense_Mutation	SNP	G	G	C	rs144526249		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:230661311G>C	ENST00000283943.5	-	24	3765	c.3587C>G	c.(3586-3588)tCt>tGt	p.S1196C	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1244C|TRIP12_ENST00000389045.3_Missense_Mutation_p.S926C	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTTACTGGAGAAGAAAAAAA	0.343000													8	26					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69377382	69377382	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:69377382G>A	ENST00000288025.3	-	4	706	c.651C>T	c.(649-651)atC>atT	p.I217I	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	217					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ACAGTTGCAGGATCCCAGAAA	0.428000													11	40					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49842084	49842084	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:49842084G>A	ENST00000251108.6	+	5	1002	c.889G>A	c.(889-891)Gga>Aga	p.G297R	CDADC1_ENST00000444959.1_Missense_Mutation_p.G99R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	297							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAAACACTTCGGATTTTACCG	0.413000													18	50					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309280	248309280	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:248309280C>G	ENST00000366476.1	+	1	831	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTCTGTATTCTACACCATCC	0.517000													25	105					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2013172	2013172	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:2013172G>A	ENST00000529806.1	-	2	449	c.263C>T	c.(262-264)gCc>gTc	p.A88V	RPS2_ENST00000343262.4_Missense_Mutation_p.A118V|RPS2_ENST00000530225.1_Missense_Mutation_p.A118V|RPS2_ENST00000526522.1_Missense_Mutation_p.A118V			P15880	RS2_HUMAN	ribosomal protein S2	118					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCGCTGGCCGGCACGGGTCTG	0.562000													2	1					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471422	103471422	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:103471422G>A	ENST00000358392.2	-	18	2170	c.1853C>T	c.(1852-1854)cCg>cTg	p.P618L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P490L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P567L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.P606L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	606	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGCAGACCCGGAAGTCCATC	0.358000													23	47					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049303	23049303	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:23049303C>G	ENST00000221132.3	-	10	1375	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	437	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TTGCATGTCTCTCTTCCATCC	0.507000													12	26					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196749052	196749052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:196749052G>A	ENST00000471440.2	+	3	453	c.379G>A	c.(379-381)Gtt>Att	p.V127I	CFHR3_ENST00000391985.3_Missense_Mutation_p.V127I|CFHR3_ENST00000367425.4_Missense_Mutation_p.V127I					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GCAGACCACAGTTACATGTAC	0.448000													11	29					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44565657	44565657	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:44565657C>G	ENST00000541738.1	-	7	1107	c.721G>C	c.(721-723)Gat>Cat	p.D241H	PREPL_ENST00000409411.1_Missense_Mutation_p.D241H|PREPL_ENST00000409957.1_Missense_Mutation_p.D241H|PREPL_ENST00000260648.6_Missense_Mutation_p.D330H|PREPL_ENST00000409272.1_Missense_Mutation_p.D330H|PREPL_ENST00000409936.1_Missense_Mutation_p.D330H|PREPL_ENST00000410081.1_Missense_Mutation_p.D330H|PREPL_ENST00000378520.3_Missense_Mutation_p.D330H|PREPL_ENST00000378511.3_Intron	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	330					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGGGTATCAGCCGCTGTT	0.378000													6	23					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871501	2871501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:2871501G>A	ENST00000455114.1	+	6	940	c.834G>A	c.(832-834)tgG>tgA	p.W278*	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Nonsense_Mutation_p.W280*|PRSS21_ENST00000450020.3_Nonsense_Mutation_p.W266*	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	280	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACTTTGAGTGGATCCAGAAGC	0.602000													5	13					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3135713	3135713	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:3135713C>G	ENST00000356443.4	-	15	2374	c.2041G>C	c.(2041-2043)Gaa>Caa	p.E681Q	MYOM1_ENST00000400569.3_Missense_Mutation_p.E681Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.E681Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	681	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCAGTTTTCTGTTCCTGCC	0.527000													6	10					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104332181	104332181	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:104332181G>T	ENST00000299767.5	+	7	1101	c.919G>T	c.(919-921)Gat>Tat	p.D307Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	307					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	agaagaatctgatgatgaagc	0.363000													5	9					0.014758	0.0148627	1	1	0
TMC4	147798	broad.mit.edu	37	19	54664722	54664722	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:54664722G>A	ENST00000376591.4	-	13	2015	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	TMC4_ENST00000301187.4_Silent_p.I622I|TMC4_ENST00000416963.1_Silent_p.I210I	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	628						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTGGGCCCAGATGGACGACT	0.562000													3	16					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017236	33017236	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:33017236C>G	ENST00000357505.6	-	7	1497	c.1393G>C	c.(1393-1395)Gaa>Caa	p.E465Q	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E480Q|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.E465Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	133										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTGTTGATTCTAAGGCATTC	0.358000													8	10					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247408	56247408	+	Missense_Mutation	SNP	G	G	A	rs147819968		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:56247408G>A	ENST00000545221.1	+	1	392	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CGGCCCCTCCGCTATGTCACC	0.567000													17	40					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72151662	72151662	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:72151662G>C	ENST00000337273.5	+	4	693	c.267G>C	c.(265-267)caG>caC	p.Q89H	TNPO1_ENST00000447967.2_Missense_Mutation_p.Q81H|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000506351.2_Missense_Mutation_p.Q81H|TNPO1_ENST00000523768.1_Intron	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	89	Importin N-terminal.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CACACTTTCAGAACTTCCCAA	0.323000													6	23					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	29					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26888470	26888470	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:26888470C>G	ENST00000308360.7	-	6	1021	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	PIGS_ENST00000543734.1_Missense_Mutation_p.E155Q|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E208Q	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	216					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CGCCTCTTCTCAGCGCTCCAC	0.582000													4	21					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3799671	3799671	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:3799671C>G	ENST00000262367.5	-	21	4602	c.3793G>C	c.(3793-3795)Gat>Cat	p.D1265H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1227H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1265	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCAAACTGATCCTTTGAAATT	0.279000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	16					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195300	195300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:195300G>A	ENST00000398612.1	+	6	836	c.453G>A	c.(451-453)tgG>tgA	p.W151*	ZNF596_ENST00000308811.4_Nonsense_Mutation_p.W151*|ZNF596_ENST00000320552.2_Nonsense_Mutation_p.W81*	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCAGTGACTGGTTATCCTTTA	0.343000													14	39					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2503509	2503509	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:2503509C>T	ENST00000397066.4	+	15	1774	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	562					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	p.L562L(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACGCCTTCCTCAGCTCTCCCT	0.612000													8	17					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77629765	77629765	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:77629765C>G	ENST00000407578.2	-	80	13841	c.13575G>C	c.(13573-13575)gtG>gtC	p.V4525V	MYCBP2_ENST00000544440.2_Silent_p.V4487V|MYCBP2_ENST00000357337.6_Silent_p.V4487V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATAAAACCTCACACCAGGAG	0.358000													13	46					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802325	185802325	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:185802325G>A	ENST00000302277.6	+	4	2796	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	734						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGTAGTCAGGATCACAGAA	0.333000													14	41					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448451	20448451	+	Missense_Mutation	SNP	T	T	A	rs147520476	byFrequency	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:20448451T>A	ENST00000331849.4	+	11	1533	c.1386T>A	c.(1384-1386)gaT>gaA	p.D462E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	462					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.D462E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGACAAGGATGGCTACTTTT	0.473000													4	88					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853780	88853780	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:88853780C>T	ENST00000537554.1	-	2	4776	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CNR1_ENST00000369499.2_Missense_Mutation_p.R405Q|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.R372Q|CNR1_ENST00000549890.1_Missense_Mutation_p.R405Q|CNR1_ENST00000549716.1_Missense_Mutation_p.R344Q|CNR1_ENST00000369501.2_Missense_Mutation_p.R405Q|CNR1_ENST00000535130.1_Missense_Mutation_p.R405Q|CNR1_ENST00000428600.2_Missense_Mutation_p.R405Q	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	405					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAAGCGTGTCGCAGGTCCTT	0.527000													5	39					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469436	72469436	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:72469436C>T	ENST00000296776.5	+	1	415	c.366C>T	c.(364-366)ttC>ttT	p.F122F	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	122						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CATTTGTTTTCACTGGCATCA	0.512000													13	45					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880331	26880331	+	RNA	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:26880331G>A	ENST00000412114.1	+	0	566					NR_026793.1																						AACACATGCTGAAACATGGAA	0.502000													4	21					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40557007	40557007	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:40557007G>A	ENST00000558658.1	+	4	302	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PAK6_ENST00000441369.1_Silent_p.K7K|PAK6_ENST00000453867.1_Silent_p.K7K|PAK6_ENST00000455577.2_Silent_p.K7K|PAK6_ENST00000560346.1_Silent_p.K7K|PAK6_ENST00000260404.4_Silent_p.K7K|PAK6_ENST00000542403.2_Silent_p.K7K																							AGAAAAAGAAGAAACGCCCTG	0.587000													8	40					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475509	120475509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:120475509C>A	ENST00000355622.6	+	3	1204	c.1103C>A	c.(1102-1104)tCa>tAa	p.S368*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.S328*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	368					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATGCTTTTTCAGAAGTTGAT	0.378000													43	44					6.2361e-21	7.19941e-21	1	1	0
MFAP1	4236	broad.mit.edu	37	15	44097612	44097612	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:44097612C>T	ENST00000267812.3	-	8	1331	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	367						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTGAAATGATCCTCCAGGGTA	0.358000													19	35					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70517696	70517696	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:70517696G>C	ENST00000535149.1	+	7	1415	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.E347Q|NONO_ENST00000373841.1_Missense_Mutation_p.E347Q|NONO_ENST00000276079.8_Missense_Mutation_p.E347Q	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	347	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCAGGAGGAAGAGCGCAGGCG	0.512000			T	TFE3	papillary renal cancer								4	9					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824625	42824625	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr21:42824625G>C	ENST00000398600.2	+	18	2612	c.1587G>C	c.(1585-1587)caG>caC	p.Q529H	MX1_ENST00000455164.2_Missense_Mutation_p.Q529H|MX1_ENST00000288383.6_Missense_Mutation_p.Q506H|MX1_ENST00000398598.3_Missense_Mutation_p.Q529H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	529					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGATGGAACAGATTGTCTACT	0.433000													13	63					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115344005	115344005	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:115344005G>A	ENST00000351270.3	+	11	1432	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	HABP2_ENST00000542051.1_Missense_Mutation_p.E420K	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	446	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTCTGGGAGTGAGTGCCACAT	0.502000													8	26					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22671936	22671936	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:22671936G>A	ENST00000361524.3	-	6	3916	c.3768C>T	c.(3766-3768)ttC>ttT	p.F1256F	ZNF521_ENST00000584787.1_Silent_p.F1036F|ZNF521_ENST00000538137.2_Silent_p.F1256F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1256					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.F1256L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGACACTTGAAGGTGCCTC	0.498000			T	PAX5	ALL								6	14					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143094936	143094936	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:143094936G>A	ENST00000513000.1	-	17	1641	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	INPP4B_ENST00000509777.1_Missense_Mutation_p.S403L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S403L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S403L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S403L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	403					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTTTTCAGGTGAATAGTAAAT	0.378000													12	51					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139983355	139983355	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:139983355G>A	ENST00000371589.4	+	3	436	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	121					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)		AGCAGAAGATGAGGCCAGAAA	0.453000													82	44					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3573363	3573363	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:3573363C>A	ENST00000262848.5	-	3	780	c.426G>T	c.(424-426)ggG>ggT	p.G142G	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	142	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGGAGAAGCGCCCCCGGTTGC	0.602000													6	35					5.9392e-07	6.50411e-07	1	1	0
MUC2	4583	broad.mit.edu	37	11	1078358	1078358	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:1078358C>T	ENST00000441003.2	+	5	672	c.645C>T	c.(643-645)ccC>ccT	p.P215P	MUC2_ENST00000359061.5_Silent_p.P215P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	215	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGTGGCCCCCGCATCCTGCT	0.647000													6	28					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188251	135188251	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:135188251G>T	ENST00000274513.5	+	4	334		c.e4-1		SLC25A48_ENST00000412661.2_Splice_Site|SLC25A48_ENST00000433282.2_Splice_Site|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000420621.1_Splice_Site			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TTTCACTGCAGATGTTCGGCT	0.597000													18	54					3.57192e-18	4.10145e-18	1	1	0
VWA8	23078	broad.mit.edu	37	13	42259311	42259311	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:42259311G>C	ENST00000379310.3	-	35	4267	c.4199C>G	c.(4198-4200)tCa>tGa	p.S1400*		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TCTATAGAATGATGTATCAGT	0.383000													8	29					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256738	89256738	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:89256738G>A	ENST00000289746.2	+	8	1131	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	356	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.E356Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTTAGGGCTGAGCGGGGCCA	0.637000													4	7					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76203063	76203063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:76203063G>T	ENST00000591952.1	+	3	235	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	AFMID_ENST00000327898.5_3'UTR|AFMID_ENST00000409257.5_3'UTR|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR			Q63HM1	AFMID_HUMAN	arylformamidase	0						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCACCTTGGGAAGCCTCTCC	0.522000													8	26					0.000157383	0.000163525	1	1	0
LRRC40	55631	broad.mit.edu	37	1	70646808	70646808	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:70646808C>T	ENST00000370952.3	-	5	701	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	208										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTCTTCAGTTCATTACTAGAA	0.313000													8	32					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16976382	16976382	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:16976382C>G	ENST00000379803.1	+	12	1655	c.1641C>G	c.(1639-1641)atC>atG	p.I547M	SIN3B_ENST00000595541.1_Missense_Mutation_p.I105M|SIN3B_ENST00000248054.5_Missense_Mutation_p.I515M	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	547	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTTATCGCATCTATGGCGACA	0.612000													6	13					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82445561	82445561	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:82445561T>G	ENST00000370728.1	+	20	3663	c.3018T>G	c.(3016-3018)atT>atG	p.I1006M	LPHN2_ENST00000319517.6_Missense_Mutation_p.I993M|LPHN2_ENST00000370715.1_Missense_Mutation_p.I993M|LPHN2_ENST00000370713.1_Missense_Mutation_p.I993M|LPHN2_ENST00000370721.1_Missense_Mutation_p.I931M|LPHN2_ENST00000394879.1_Missense_Mutation_p.I993M|LPHN2_ENST00000370725.1_Missense_Mutation_p.I1006M|LPHN2_ENST00000359929.3_Missense_Mutation_p.I993M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.I1006M|LPHN2_ENST00000370727.1_Missense_Mutation_p.I1006M|LPHN2_ENST00000370723.1_Missense_Mutation_p.I993M|LPHN2_ENST00000370730.1_Missense_Mutation_p.I1006M|LPHN2_ENST00000370717.2_Missense_Mutation_p.I1006M|LPHN2_ENST00000271029.4_Missense_Mutation_p.I1006M			O95490	LPHN2_HUMAN	latrophilin 2	1006					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCTAAATATTATCTTCTTGG	0.308000													8	19					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254250	44254250	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:44254250C>G	ENST00000371505.4	-	3	419	c.297G>C	c.(295-297)caG>caC	p.Q99H	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	99										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGGAGCATCTGCTTCAGGA	0.582000													12	45					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404729	91404729	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:91404729C>G	ENST00000370440.1	-	3	2399	c.2182G>C	c.(2182-2184)Gaa>Caa	p.E728Q	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E728Q|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAGACTTTTCTTTTGCTGCT	0.343000													14	79					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46627893	46627893	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:46627893C>G	ENST00000181383.4	-	11	1144	c.1128G>C	c.(1126-1128)ttG>ttC	p.L376F	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.L339F|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	376					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATTTGATGCCCAAATCATAGA	0.408000													7	33					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67285399	67285399	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:67285399G>C	ENST00000392676.3	-	14	1885	c.1821C>G	c.(1819-1821)atC>atG	p.I607M	ABCA5_ENST00000392677.2_Missense_Mutation_p.I607M|ABCA5_ENST00000588877.1_Missense_Mutation_p.I607M			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	607	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGTTATCTTTGATAGTCTGCA	0.289000													6	18					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907726	241907726	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:241907726A>G	ENST00000366552.2	+	12	1679	c.1472A>G	c.(1471-1473)tAc>tGc	p.Y491C	WDR64_ENST00000437684.2_Missense_Mutation_p.Y491C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	491										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCCAAGTATACCAGATTTTA	0.413000													25	54					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649666	136649666	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:136649666C>T	ENST00000287538.5	+	1	1366	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZIC3_ENST00000370606.3_Silent_p.F272F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	272					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCGGACCTTCAGCACCATGC	0.612000													5	33					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118590151	118590151	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:118590151T>C	ENST00000392533.3	-	20	2906	c.2416A>G	c.(2416-2418)Atg>Gtg	p.M806V	TAOK3_ENST00000419821.2_Missense_Mutation_p.M806V|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000536979.1_Start_Codon_SNP_p.M1V|TAOK3_ENST00000537952.1_Missense_Mutation_p.M346V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	806					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCAGCTCCATTTCCTGCTGG	0.532000													10	50					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366361	15366361	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:15366361C>T	ENST00000263377.2	-	10	2015	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	BRD4_ENST00000371835.4_Silent_p.T598T|BRD4_ENST00000360016.5_Silent_p.T598T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	598			T -> S (in dbSNP:rs34362023).		interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCGACTCATACGTGGGAGGGG	0.597000			T	C15orf55	lethal midline carcinoma of young people								22	68					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845405	248845405	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:248845405C>A	ENST00000342623.3	-	1	224	c.201G>T	c.(199-201)ttG>ttT	p.L67F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGCACAGATCCAAAACGGAGA	0.493000													5	32					0.00198382	0.00201696	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85111125	85111125	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:85111125G>T	ENST00000566428.1	+	6	1300	c.669G>T	c.(667-669)aaG>aaT	p.K223N	KIAA0513_ENST00000538274.1_Missense_Mutation_p.K223N|KIAA0513_ENST00000258180.3_Missense_Mutation_p.K223N|KIAA0513_ENST00000567328.1_Missense_Mutation_p.K223N			O60268	K0513_HUMAN	KIAA0513	223						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGGCCGAAAAGAAGGACATCG	0.627000													6	14					3.59834e-05	3.8037e-05	1	1	0
STIL	6491	broad.mit.edu	37	1	47717290	47717290	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:47717290G>T	ENST00000360380.3	-	18	3745	c.3382C>A	c.(3382-3384)Ctc>Atc	p.L1128I	STIL_ENST00000243182.6_Missense_Mutation_p.L1128I|STIL_ENST00000371877.3_Missense_Mutation_p.L1129I|STIL_ENST00000337817.5_Missense_Mutation_p.L1128I|STIL_ENST00000396221.2_Missense_Mutation_p.L1111I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1128					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTTTGTAGGAGTCCATATCTC	0.383000													38	53					1.07637e-12	1.22275e-12	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56132822	56132822	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:56132822G>C	ENST00000508342.1	-	16	3498	c.3199C>G	c.(3199-3201)Cat>Gat	p.H1067D	NEDD4_ENST00000506154.1_Missense_Mutation_p.H1051D|NEDD4_ENST00000435532.3_Missense_Mutation_p.H648D|NEDD4_ENST00000338963.2_Missense_Mutation_p.H995D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1067	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.H995Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTTTGCCATGATAAACTGCC	0.333000													17	66					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279962	217279962	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:217279962C>T	ENST00000357276.4	+	3	865	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.H179Y	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	179					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GACACCAGCTCATTCCTCTGG	0.512000									Schimke Immuno-Osseous Dysplasia				4	38					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878053	2878053	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:2878053G>C	ENST00000586426.1	+	4	1181	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	ZNF556_ENST00000307635.2_Missense_Mutation_p.R366T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TCACAAACTAGAGAGAAAGTC	0.478000													7	16					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730897	6730897	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:6730897G>A	ENST00000405858.1	-	5	2217	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	ZNF12_ENST00000342651.5_Missense_Mutation_p.S521F|ZNF12_ENST00000404360.1_Missense_Mutation_p.S485F|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	559					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGACATCTGAGAGAAGAATTT	0.413000													8	35					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686828	151686828	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:151686828G>C	ENST00000325144.4	-	3	1513	c.1373C>G	c.(1372-1374)tCc>tGc	p.S458C		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	458					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)		ATTGGGAGTGGAGAATGTTTT	0.473000													8	32					0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698779	29698779	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:29698779G>C	ENST00000304863.4	-	2	923	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	167					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTCTCCATTTGAAAGCCATGT	0.478000													32	78					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110182014	110182014	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:110182014G>C	ENST00000538780.1	+	2	779	c.63G>C	c.(61-63)aaG>aaC	p.K21N	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.K21N|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	21																	GCCCGAGCAAGAGCCTGGAGC	0.672000													3	15					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40697304	40697304	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:40697304C>G	ENST00000454349.2	+	15	4298	c.4087C>G	c.(4087-4089)Caa>Gaa	p.Q1363E	TNRC6B_ENST00000402203.1_Missense_Mutation_p.Q559E|TNRC6B_ENST00000301923.9_Missense_Mutation_p.Q559E|TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q1253E	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1363					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCCAGACCTTCAAACCAAAGG	0.512000													3	7					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58482421	58482421	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:58482421T>A	ENST00000357552.3	-	15	1256	c.1031A>T	c.(1030-1032)gAa>gTa	p.E344V	SYCP2_ENST00000371001.2_Missense_Mutation_p.E344V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	344					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTAATACCTTCAATGCTGTA	0.299000													8	15					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895767	24895767	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:24895767C>G	ENST00000382071.2	+	4	948	c.863C>G	c.(862-864)tCt>tGt	p.S288C	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.S288C			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	288	C1q.					collagen	hormone activity	p.S288C(1)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GACCAGGCCTCTGGCGGCATT	0.498000													12	32					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865341	109865341	+	Silent	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:109865341G>T	ENST00000310903.5	+	19	1957	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	MYO1H_ENST00000431443.2_Silent_p.V627V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACCTGCGGGTGAGACGGGCTG	0.433000													25	92					2.12542e-12	2.40805e-12	1	1	0
AP2S1	1175	broad.mit.edu	37	19	47349385	47349385	+	Silent	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:47349385G>T	ENST00000263270.6	-	2	243	c.18C>A	c.(16-18)ctC>ctA	p.L6L	AP2S1_ENST00000597020.1_5'UTR|AP2S1_ENST00000352203.4_Silent_p.L6L|AP2S1_ENST00000599990.1_Silent_p.L8L|AP2S1_ENST00000601649.1_Silent_p.L6L|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000601498.1_Silent_p.L22L	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	6					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGTTCTGGATGAGGATAAAGC	0.597000													6	16					0.000157383	0.000163525	1	1	0
LARS	51520	broad.mit.edu	37	5	145502111	145502111	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:145502111C>G	ENST00000394434.2	-	30	3302	c.3136G>C	c.(3136-3138)Gat>Cat	p.D1046H	LARS_ENST00000510191.1_Missense_Mutation_p.D992H|LARS_ENST00000274562.9_Missense_Mutation_p.D1019H|LARS_ENST00000545646.1_Missense_Mutation_p.D1000H	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1046					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTGATTTTATCTTCTGCTTCG	0.348000													13	38					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	37098448	37098448	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:37098448C>G	ENST00000300105.6	-	1	1155	c.174G>C	c.(172-174)atG>atC	p.M58I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	58					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGAATGGGTCATAACTTCCT	0.532000													16	71					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:154988705G>C	ENST00000368426.3	+	4	1301	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K388N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K388N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K422N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.K388N(2)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632000													7	17					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887	by1000genomes	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1																						GTTGAGCAGCGGCTGAAACCC	0.687000													5	6					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729612	162729612	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:162729612C>T	ENST00000367922.3	+	9	1136	c.698C>T	c.(697-699)aCc>aTc	p.T233I	DDR2_ENST00000367921.3_Missense_Mutation_p.T233I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGCCAATTGACCGATGGTGTG	0.532000													11	28					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808786	48808786	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:48808786C>T	ENST00000309835.3	+	1	1024	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	STON1-GTF2A1L_ENST00000309827.2_Silent_p.F338F|STON1-GTF2A1L_ENST00000402114.2_Silent_p.F338F|STON1-GTF2A1L_ENST00000394751.3_Silent_p.F338F|STON1-GTF2A1L_ENST00000405008.1_Silent_p.F338F|STON1_ENST00000404752.1_Silent_p.F338F|STON1_ENST00000406226.1_Silent_p.F338F|STON1-GTF2A1L_ENST00000394754.1_Silent_p.F338F					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAGAACTTCAGTGTAGCAG	0.363000													20	57					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752197	7752197	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:7752197C>G	ENST00000254846.5	+	11	2980	c.2591C>G	c.(2590-2592)tCt>tGt	p.S864C	KDM6B_ENST00000448097.2_Missense_Mutation_p.S864C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	864	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCACAGCCCTCTGCTTCCTCG	0.711000													7	13					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8145968	8145968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:8145968G>A	ENST00000600128.1	-	59	7786	c.7372C>T	c.(7372-7374)Cag>Tag	p.Q2458*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2458*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2458*			Q75N90	FBN3_HUMAN	fibrillin 3	2458	EGF-like 40; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGAACTGACAGTTGTGC	0.657000													4	28					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239157733	239157733	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:239157733C>T	ENST00000254657.3	-	22	3867	c.3588G>A	c.(3586-3588)acG>acA	p.T1196T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1196	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.T1196T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCAGGCCGCCCGTCTGCATCC	0.577000													32	87					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1016163	1016163	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:1016163G>A	ENST00000398484.2	+	4	832	c.252G>A	c.(250-252)ctG>ctA	p.L84L	FGFRL1_ENST00000510644.1_Silent_p.L84L|FGFRL1_ENST00000264748.6_Silent_p.L84L|FGFRL1_ENST00000504138.1_Silent_p.L84L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	84	Ig-like C2-type 1.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCAGGGGCTGAAGGTGAAGC	0.687000													3	6					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012688	29012688	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:29012688C>G	ENST00000377175.1	-	1	329	c.265G>C	c.(265-267)Gat>Cat	p.D89H		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATGGTCTTATCAGGTCCCCAC	0.433000													12	43					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223768	44223768	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:44223768G>A	ENST00000244314.5	+	2	1257	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	353						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCGTCCGACGGCGCCATGCGG	0.657000													5	26					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549772	55549772	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:55549772C>G	ENST00000436346.1	-	18	3895	c.3054G>C	c.(3052-3054)caG>caC	p.Q1018H	AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1017H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1018H|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1017H|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1018					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.Q1018H(1)|p.Q1017H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAGGAGAGCTCTGTACCATCC	0.338000													26	73					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051149	75051149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:75051149C>A	ENST00000401621.2	-	20	2404	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Nonsense_Mutation_p.E762*|TTC18_ENST00000355577.3_Nonsense_Mutation_p.E231*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.E762*			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	762							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGAGGCCTCATGAAATGCC	0.398000													8	61					5.4927e-09	6.10938e-09	1	1	0
ACOX1	51	broad.mit.edu	37	17	73949678	73949678	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:73949678C>A	ENST00000537812.1	-	7	1332	c.684G>T	c.(682-684)gtG>gtT	p.V228V	ACOX1_ENST00000301608.4_Silent_p.V266V|ACOX1_ENST00000293217.5_Silent_p.V266V	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	266					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCAGCGGTTTCACGTATGTGC	0.512000													9	28					5.50884e-06	5.92617e-06	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137726903	137726903	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:137726903C>A	ENST00000314358.5	+	8	1782	c.1582C>A	c.(1582-1584)Caa>Aaa	p.Q528K	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.Q184K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	528					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTTGTTTTTTCAATGCATGTC	0.423000													11	29					6.40141e-05	6.73334e-05	1	1	0
OR4D6	219983	broad.mit.edu	37	11	59224445	59224445	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:59224445C>A	ENST00000300127.2	+	1	35	c.12C>A	c.(10-12)atC>atA	p.I4I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGACCAGATCAACCACACTA	0.423000													14	69					9.31168e-06	9.96677e-06	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299030	125299030	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:125299030C>A	ENST00000538699.1	-	2	958	c.878G>T	c.(877-879)aGc>aTc	p.S293I	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S293I	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	293										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATAGTGTGCTCCGGGCTTT	0.612000													17	54					8.34094e-07	9.11087e-07	1	1	0
TACC2	10579	broad.mit.edu	37	10	123842421	123842421	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:123842421C>G	ENST00000369005.1	+	4	746	c.406C>G	c.(406-408)Cag>Gag	p.Q136E	TACC2_ENST00000453444.2_Missense_Mutation_p.Q136E|TACC2_ENST00000515273.1_Missense_Mutation_p.Q136E|TACC2_ENST00000515603.1_Missense_Mutation_p.Q136E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.Q136E|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	136						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCTCAGACTCAGTCTCCCAG	0.617000													9	33					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98804452	98804452	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:98804452G>C	ENST00000477737.1	+	10	1530	c.1326G>C	c.(1324-1326)aaG>aaC	p.K442N	VWA3B_ENST00000451075.2_Missense_Mutation_p.K292N|VWA3B_ENST00000435344.1_Missense_Mutation_p.K442N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	442										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAACAAGAAGACAGTCCATG	0.478000													10	24					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230661446	230661446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:230661446G>C	ENST00000283943.5	-	24	3630	c.3452C>G	c.(3451-3453)tCa>tGa	p.S1151*	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S1199*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.S881*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1151					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAAACATCTGACTCTGAGAC	0.388000													8	41					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16357015	16357015	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:16357015G>C	ENST00000375692.1	+	16	1596	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	CLCNKA_ENST00000331433.4_Missense_Mutation_p.E490Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.E447Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.E490Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	490					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTGGCCTTTGAGCTGACCGG	0.657000													5	33					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156264264	156264264	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:156264264C>G	ENST00000362007.1	-	3	497	c.471G>C	c.(469-471)tgG>tgC	p.W157C		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	157					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.W157*(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGATGTTGTTCCAAGAGAAAT	0.532000													13	27					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			32	102					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23445862	23445862	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:23445862C>T	ENST00000262713.2	-	3	1543	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	AJUBA_ENST00000361265.4_Missense_Mutation_p.D390N|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	390	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										ACCAGATAATCTTCCTCACAG	0.498000													20	69					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137518338	137518338	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:137518338G>A	ENST00000394894.3	+	6	804	c.578G>A	c.(577-579)gGc>gAc	p.G193D	KIF20A_ENST00000508792.1_Missense_Mutation_p.G175D	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	193	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCCTCCAAGGCCAACTTCAT	0.527000													3	26					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45815023	45815023	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:45815023C>T	ENST00000320560.8	+	18	2589	c.2387C>T	c.(2386-2388)cCg>cTg	p.P796L	ANO6_ENST00000441606.2_Missense_Mutation_p.P778L|ANO6_ENST00000423947.3_Missense_Mutation_p.P817L|ANO6_ENST00000435642.1_Missense_Mutation_p.P796L|ANO6_ENST00000425752.2_Missense_Mutation_p.P796L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	796					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGGGAAACCCGTACTCTGAC	0.428000													8	15					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70235600	70235600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:70235600C>T	ENST00000553521.1	+	5	1736	c.283C>T	c.(283-285)Cga>Tga	p.R95*	SRSF5_ENST00000394366.2_Nonsense_Mutation_p.R95*|SRSF5_ENST00000553635.1_Nonsense_Mutation_p.R92*|SRSF5_ENST00000554021.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Nonsense_Mutation_p.R95*|SRSF5_ENST00000555349.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000557154.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000553548.1_Nonsense_Mutation_p.R95*			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	95					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						TCGCAGACCTCGAAATGATAG	0.453000													12	31					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72350546	72350546	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:72350546G>C	ENST00000389916.4	+	18	2692	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	852					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGCACGGGCGAGGCCCCGTC	0.687000													3	7					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48525485	48525485	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:48525485G>C	ENST00000339841.2	+	6	751	c.573G>C	c.(571-573)aaG>aaC	p.K191N	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.K43N	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	191	Fibronectin type-II 4.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		ATAAAAACAAGAATTATTTTA	0.438000													29	50					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975333	24975333	+	Silent	SNP	C	C	G	rs150775967	byFrequency	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:24975333C>G	ENST00000250378.3	-	4	530	c.501G>C	c.(499-501)ctG>ctC	p.L167L	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.L56L	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	167	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCATGAGTCTCAGCTTCACCT	0.532000													8	20					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154732250	154732250	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:154732250C>T	ENST00000607772.1	-	11	1641	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CNKSR3_ENST00000479339.1_Missense_Mutation_p.G286E|CNKSR3_ENST00000433165.2_Missense_Mutation_p.G191E	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	366	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACTGGACCCTCCATAAACAAA	0.438000													14	36					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329594	20329594	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:20329594G>A	ENST00000302555.5	-	7	1315	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	GP2_ENST00000341642.5_Missense_Mutation_p.S242F|GP2_ENST00000381360.5_Missense_Mutation_p.S245F|GP2_ENST00000381362.4_Missense_Mutation_p.S392F			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	392	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTTAAACCGGGAGGTGTCCCC	0.493000													27	46					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405095	91405095	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:91405095C>G	ENST00000370440.1	-	3	2033	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E606Q|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCAAGTACTCCGTGTGCTTT	0.358000													22	97					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093692	30093692	+	RNA	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:30093692C>G	ENST00000567636.1	+	0	2067					NR_003558.1																						GTTCCTGTCTCAGTACAAACT	0.453000													6	27					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207824402	207824402	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:207824402G>C	ENST00000272852.3	+	5	466	c.420G>C	c.(418-420)agG>agC	p.R140S		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	140					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGCTCCTTAGGAACCTGGACT	0.368000													7	38					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930538	122930538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:122930538C>A	ENST00000534624.1	-	5	1039	c.763G>T	c.(763-765)Gag>Tag	p.E255*	HSPA8_ENST00000532636.1_Nonsense_Mutation_p.E255*|HSPA8_ENST00000533540.1_Nonsense_Mutation_p.E109*|HSPA8_ENST00000453788.2_Nonsense_Mutation_p.E255*|HSPA8_ENST00000227378.3_Nonsense_Mutation_p.E255*|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Nonsense_Mutation_p.E236*|HSPA8_ENST00000534319.1_Nonsense_Mutation_p.E19*	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	255	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCTTGTTCTCACTGATGTCC	0.478000													6	48					0.0215528	0.0216544	1	1	0
KLF1	10661	broad.mit.edu	37	19	12996300	12996300	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:12996300G>A	ENST00000264834.4	-	2	784	c.744C>T	c.(742-744)ctC>ctT	p.L248L		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	248	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCCCCCGAGTCCAGTGC	0.697000													3	7					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763638	23763638	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:23763638C>G	ENST00000336689.3	-	14	1371	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	ASAP3_ENST00000437606.2_Missense_Mutation_p.D434H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	443	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCCCCGCAGTCGCAGCACTGG	0.692000													3	4					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732014	3732014	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:3732014C>T	ENST00000378230.3	-	22	3054	c.2730G>A	c.(2728-2730)ccG>ccA	p.P910P		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	910						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTCCGCCCTTCGGGGTGGGGA	0.637000													4	11					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886509	57886509	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:57886509C>T	ENST00000302610.1	-	1	407	c.408G>A	c.(406-408)atG>atA	p.M136I	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCCTGGGATTCATGGCCACGG	0.557000													5	23					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223275	51223275	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:51223275C>A	ENST00000245441.5	-	18	4663	c.4473G>T	c.(4471-4473)ctG>ctT	p.L1491L	NIN_ENST00000382041.3_Silent_p.L1491L|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Silent_p.L1491L|NIN_ENST00000530997.2_Silent_p.L1491L|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.L1491L	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1491					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATTGCCTTcagctcttcct	0.418000			T	PDGFRB	MPD								10	22					3.07112e-06	3.329e-06	1	1	0
AGL	178	broad.mit.edu	37	1	100366212	100366212	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:100366212C>T	ENST00000294724.4	+	26	3861	c.3383C>T	c.(3382-3384)gCg>gTg	p.A1128V	AGL_ENST00000361915.3_Missense_Mutation_p.A1128V|AGL_ENST00000361302.3_Missense_Mutation_p.A1112V|AGL_ENST00000370163.3_Missense_Mutation_p.A1128V|AGL_ENST00000370165.3_Missense_Mutation_p.A1128V|AGL_ENST00000370161.2_Missense_Mutation_p.A1112V|AGL_ENST00000361522.4_Missense_Mutation_p.A1111V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1128					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.A1128V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTAGCATTTGCGGGTACCCTG	0.393000													4	123					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57909836	57909836	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:57909836C>T	ENST00000315473.5	+	18	2474	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCCCTAATTTCCCTAAGTAGT	0.493000													5	11					0	0	1	0	0
RAB6A	5870	broad.mit.edu	37	11	73429663	73429663	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:73429663A>T	ENST00000336083.3	-	4	739	c.284T>A	c.(283-285)aTc>aAc	p.I95N	RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000541588.1_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	95					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						CTCACTTGTGATATCATAAAC	0.428000													13	22					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442822	61442822	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:61442822T>C	ENST00000261249.6	-	4	1199	c.815A>G	c.(814-816)tAt>tGt	p.Y272C	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	272						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		ATCAAATTCATAGGTGTAGTT	0.368000													15	48					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360855	42360855	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:42360855C>T	ENST00000298119.4	+	4	2977	c.1788C>T	c.(1786-1788)caC>caT	p.H596H	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	596						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTGGGACACGAAGAGAATG	0.473000										HNSCC(30;0.082)			6	33					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877835	2877835	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:2877835G>A	ENST00000586426.1	+	4	963	c.876G>A	c.(874-876)ggG>ggA	p.G292G	ZNF556_ENST00000307635.2_Silent_p.G293G			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGCAGTGTGGGAAAGCCTACT	0.512000													6	40					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111842515	111842515	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:111842515C>G	ENST00000308910.4	-	6	508	c.324G>C	c.(322-324)gaG>gaC	p.E108D	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.E110D	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		AGGGAACATTCTCATAGTACT	0.498000													12	36					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80885817	80885817	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:80885817G>C	ENST00000355528.4	+	30	2776	c.2646G>C	c.(2644-2646)ctG>ctC	p.L882L	TBCD_ENST00000539345.2_Silent_p.L882L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	882					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGATGGATCTGACACTTCTGC	0.617000													6	22					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219114619	219114619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:219114619G>T	ENST00000295685.10	+	9	1114	c.853G>T	c.(853-855)Gag>Tag	p.E285*	ARPC2_ENST00000315717.5_Nonsense_Mutation_p.E285*|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	285					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCCAGATGCCGAGAAAAAAGA	0.532000													4	9					0.00024832	0.000255518	1	1	0
ATF7IP2	80063	broad.mit.edu	37	16	10567822	10567822	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:10567822G>C	ENST00000396560.2	+	10	1752	c.1525G>C	c.(1525-1527)Gaa>Caa	p.E509Q	ATF7IP2_ENST00000543967.1_Missense_Mutation_p.E53Q|ATF7IP2_ENST00000396559.1_Intron|ATF7IP2_ENST00000324570.5_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E509Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTTGACAAAAGAAGGCCTATC	0.308000													13	45					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134891901	134891901	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:134891901G>C	ENST00000354475.4	-	4	596	c.565C>G	c.(565-567)Caa>Gaa	p.Q189E	WDR91_ENST00000423565.1_Missense_Mutation_p.Q154E|WDR91_ENST00000344400.5_Missense_Mutation_p.Q189E	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	189										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTTCTTCTTGAACCTGGTTA	0.448000													9	67					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232149	26232149	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:26232149C>T	ENST00000354667.4	-	11	1217	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R338K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	350	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTATCGGCTCCTCCCACCATA	0.418000			T	ETV1	prostate								49	96					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75899075	75899075	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:75899075C>T	ENST00000321027.3	-	14	2090		c.e14+1		GCFC2_ENST00000409857.3_Splice_Site|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_Splice_Site	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2						negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TTTTTGCTCACCTTTAGGCCT	0.313000													16	69					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991445	52991445	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:52991445C>T	ENST00000371544.3	-	2	770	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D170N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.D170N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	170					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGTCTCATGTCTTTCAACAGT	0.388000													37	107					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21934407	21934407	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:21934407T>C	ENST00000328843.6	+	79	12969	c.12938T>C	c.(12937-12939)cTg>cCg	p.L4313P	DNAH11_ENST00000409508.3_Missense_Mutation_p.L4306P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4313					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTGAACAACTGGACCTTAGT	0.378000									Kartagener syndrome				8	12					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113460	65113460	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:65113460G>T	ENST00000528416.1	+	8	968	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.D293Y	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	279					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTGCCTGGGGGACTCAAAGAT	0.542000													26	60					4.72057e-08	5.23689e-08	1	1	0
FAM118B	79607	broad.mit.edu	37	11	126120446	126120446	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:126120446G>A	ENST00000533050.1	+	5	878	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	FAM118B_ENST00000529731.1_Intron|FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.E129K	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	129										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTGTTTATATGAAGTATTTGA	0.393000													5	38					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169023827	169023827	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:169023827T>A	ENST00000355999.4	-	3	1117	c.412A>T	c.(412-414)Atg>Ttg	p.M138L		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	138	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGTAATTTCATGACCAGCCAA	0.373000													5	37					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107594154	107594154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:107594154G>T	ENST00000393561.1	-	20	3156	c.2972C>A	c.(2971-2973)tCa>tAa	p.S991*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.S967*			P07942	LAMB1_HUMAN	laminin, beta 1	967	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCAACTTCTGATGGATTGCC	0.498000													32	45					2.49991e-28	2.92572e-28	1	1	0
RXFP1	59350	broad.mit.edu	37	4	159520487	159520487	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:159520487C>A	ENST00000307765.5	+	4	547	c.296C>A	c.(295-297)tCt>tAt	p.S99Y	RXFP1_ENST00000470033.1_Missense_Mutation_p.S66Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.S18Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S99Y|RXFP1_ENST00000423548.1_Missense_Mutation_p.S99Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S18Y	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	99	LRRNT.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTGGTCGGTTCTGTGCCAGTG	0.443000													10	21					1.08611e-07	1.20177e-07	1	1	0
ARL4A	10124	broad.mit.edu	37	7	12728200	12728200	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:12728200G>A	ENST00000396663.1	+	2	803	c.321G>A	c.(319-321)agG>agA	p.R107R	ARL4A_ENST00000404894.1_Silent_p.R107R|ARL4A_ENST00000356797.3_Silent_p.R107R|ARL4A_ENST00000396664.2_Silent_p.R107R|ARL4A_ENST00000396662.1_Silent_p.R107R	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	107					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ATGTCGAAAGGATGGAAGAAG	0.408000													17	23					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1637244	1637244	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:1637244C>G	ENST00000426508.2	-	9	1327	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	322										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCTCCTTTCTCAAAGCCAAAC	0.458000													10	41					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720341	140720341	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:140720341C>T	ENST00000394576.2	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692000													23	57					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226004	152226004	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:152226004G>A	ENST00000447306.1	+	2	928	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E198K|PNMA3_ENST00000370264.4_Missense_Mutation_p.E198K	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577000													12	47					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725587	32725587	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:32725587G>A	ENST00000435145.2	-	4	781	c.720C>T	c.(718-720)ctC>ctT	p.L240L	HLA-DQB2_ENST00000437316.2_Silent_p.L240L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GGCCCAGCCCGAGGAAGATCA	0.562000													3	7					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50831517	50831517	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:50831517G>T	ENST00000398473.2	+	6	647		c.e6-1		LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000518561.1_Splice_Site|LARP4_ENST00000347328.5_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4								nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTAAATTTCAGCTTCTCCCAT	0.333000													15	21					1.3612e-06	1.48305e-06	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97788696	97788696	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:97788696G>C	ENST00000297293.5	+	6	909	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	206	Protein kinase.				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)					ACAGTGCGTAGAAGCGATTCC	0.383000													13	58					0	0	1	0	0
RPS18	6222	broad.mit.edu	37	6	33244009	33244009	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:33244009G>C	ENST00000439602.2	+	5	458	c.348G>C	c.(346-348)aaG>aaC	p.K116N	RPS18_ENST00000474973.1_Missense_Mutation_p.K46N|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	116					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						GACTGAAGAAGATTCGGGCCC	0.562000													5	26					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30071884	30071884	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:30071884G>C	ENST00000376734.3	-	8	1144	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	TRIM31_ENST00000540829.1_Missense_Mutation_p.S340C	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	340						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTTACCTGCAGAAGATGACCC	0.398000													36	108					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35444668	35444668	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:35444668C>G	ENST00000237536.4	-	5	1518	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	SOGA1_ENST00000456801.2_5'UTR|SOGA1_ENST00000279034.6_Missense_Mutation_p.E155Q|SOGA1_ENST00000357779.3_Missense_Mutation_p.E155Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	155										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTGACTCCTCCTTTGCAAAG	0.542000													7	38					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20602122	20602122	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:20602122G>C	ENST00000399722.2	+	18	2836	c.2485G>C	c.(2485-2487)Gaa>Caa	p.E829Q	RBBP8_ENST00000327155.5_Missense_Mutation_p.E829Q|RBBP8_ENST00000581687.1_Missense_Mutation_p.E7Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E834Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E796D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	829					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGAAGAAAGAGAAAAGAAATT	0.363000								Homologous recombination					27	80					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79441966	79441966	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:79441966G>A	ENST00000507668.2	-	11	1335	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SERINC5_ENST00000509193.1_Silent_p.F393F|SERINC5_ENST00000512972.2_Silent_p.F395F|SERINC5_ENST00000512721.1_Silent_p.F395F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	395					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGAAGAACACGAAGTGGAAGT	0.488000													10	60					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39757600	39757600	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:39757600G>C	ENST00000564288.1	+	16	2581	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E607Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E607Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E607Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E639Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E607Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E607Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	607					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGCGAGCAGAGTGGGGCAA	0.453000													3	22					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410273	32410273	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:32410273C>T	ENST00000395388.2	+	2	240	c.131C>T	c.(130-132)tCa>tTa	p.S44L	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.S44L	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	44	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCTGACCAATCAGGCGAGTTT	0.463000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				16	66					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154493423	154493423	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:154493423C>T	ENST00000369454.3	-	1	451	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTCGATCTCCACCAAGCGG	0.622000													10	32					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539728	27539728	+	RNA	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:27539728G>C	ENST00000574842.1	+	0	997																											GTCACCTCATGATTTGGTAGA	0.502000													26	91					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962911	94962911	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:94962911G>A	ENST00000341228.2	-	4	1499	c.704C>T	c.(703-705)tCa>tTa	p.S235L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.S235L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	235					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CACCTTGACTGAACTGTTTTT	0.403000													13	39					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74151721	74151721	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:74151721G>A	ENST00000269391.6	-	15	1752	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	RNF157_ENST00000319945.6_Silent_p.I540I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	540							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCCAGGGGCGATGTAGGAGC	0.627000													7	7					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513401	78513401	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:78513401C>T	ENST00000397909.2	+	15	3598	c.3425C>T	c.(3424-3426)tCa>tTa	p.S1142L	NAV3_ENST00000266692.7_Missense_Mutation_p.S1142L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1142L|NAV3_ENST00000228327.6_Missense_Mutation_p.S1142L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1142	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCGCCCTTCAAAATCCAGC	0.532000										HNSCC(70;0.22)			8	21					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822449	52822449	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:52822449G>A	ENST00000252245.5	-	6	1334	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	372	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGGATCATGCGGTTCATTTCA	0.517000													17	17					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70517719	70517719	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:70517719G>A	ENST00000535149.1	+	7	1438	c.795G>A	c.(793-795)gaG>gaA	p.E265E	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Silent_p.E354E|NONO_ENST00000373841.1_Silent_p.E354E|NONO_ENST00000276079.8_Silent_p.E354E	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	354	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GTGAAGAAGAGATGCGGCGGC	0.517000			T	TFE3	papillary renal cancer								5	12					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49452884	49452884	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:49452884G>C	ENST00000374201.3	-	4	620	c.318C>G	c.(316-318)gtC>gtG	p.V106V	FRMPD2_ENST00000407470.4_Intron|FRMPD2_ENST00000305531.3_Intron	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	106	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTAAAGAATAGACATGCATCT	0.418000													12	30					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173587	54173587	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:54173587T>C	ENST00000259782.4	+	1	335	c.239T>C	c.(238-240)tTg>tCg	p.L80S	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.L62S|TINAG_ENST00000370869.3_Missense_Mutation_p.L76S	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	80	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCGAATGCGTTGTGCTACTGT	0.438000													23	63					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41413129	41413129	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:41413129C>T	ENST00000318588.9	-	21	1927	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	CASK_ENST00000378166.4_Missense_Mutation_p.D628N|CASK_ENST00000442742.2_Missense_Mutation_p.D605N|CASK_ENST00000378163.1_Missense_Mutation_p.D628N|CASK_ENST00000361962.4_Missense_Mutation_p.D616N|CASK_ENST00000421587.2_Missense_Mutation_p.D599N|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378158.1_Missense_Mutation_p.D616N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	628	SH3.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGAGGTCATCCTTGGCTGGA	0.398000													8	30					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310262	25310262	+	RNA	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:25310262G>A	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							CATCGGAACTGAGGTCCAGCA	0.458000													37	115					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517078	140517078	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:140517078T>C	ENST00000231134.5	+	1	2279	c.2062T>C	c.(2062-2064)Tac>Cac	p.Y688H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		688					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)			GCTCACTGTCTACCTGGTGGT	0.697000													28	81					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618360	37618360	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr21:37618360C>G	ENST00000399151.3	+	19	4167	c.4082C>G	c.(4081-4083)tCa>tGa	p.S1361*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1361					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGCTGGTCTCAGTGGCCAAG	0.537000													13	34					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													3	65					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036316	32036316	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:32036316C>G	ENST00000375244.3	-	17	6272	c.6071G>C	c.(6070-6072)gGa>gCa	p.G2024A	TNXB_ENST00000375247.2_Missense_Mutation_p.G2024A			P22105	TENX_HUMAN	tenascin XB	2106	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCCCATCTCCATTCCTGTA	0.602000													8	19					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842415	123842415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:123842415C>T	ENST00000369005.1	+	4	740	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q134*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q134*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q134*|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q134*|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	134						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGATGGTCCTCAGACTCAGTC	0.617000													8	37					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74825605	74825605	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:74825605G>C	ENST00000358399.3	+	4	480	c.387G>C	c.(385-387)agG>agC	p.R129S	GDA_ENST00000238018.4_Missense_Mutation_p.R129S|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.R55S|GDA_ENST00000376986.1_Missense_Mutation_p.R87S|GDA_ENST00000376989.3_Missense_Mutation_p.R104S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	129					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTTTAGAGGAGAACACTAA	0.378000													23	17					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962632	165962632	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:165962632G>C	ENST00000512596.1	+	3	1624	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	TRIM60_ENST00000508504.1_Missense_Mutation_p.E470Q|TRIM60_ENST00000341062.5_Missense_Mutation_p.E470Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	470	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATCAGATTCTGAAAGATAAGG	0.353000													12	30					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291096	103291096	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:103291096C>T	ENST00000520539.1	-	44	6852	c.6246G>A	c.(6244-6246)ggG>ggA	p.G2082G	UBR5_ENST00000521922.1_Silent_p.G2076G|UBR5_ENST00000220959.4_Silent_p.G2082G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2082					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTAAACATTTCCCACTACTGG	0.373000													65	94					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:158256915C>T	ENST00000296526.7	+	10	1684	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_ENST00000393815.2_Silent_p.I406I|GRIA2_ENST00000449365.1_Silent_p.I406I|GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000507898.1_Silent_p.I406I	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000													8	38					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10570948	10570948	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:10570948C>G	ENST00000396439.2	-	4	525	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NKG2-E_ENST00000539033.1_Missense_Mutation_p.E161Q|KLRC3_ENST00000381903.2_Missense_Mutation_p.E161Q|KLRC3_ENST00000381904.2_Missense_Mutation_p.E161Q	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTTACCATTTCTTCTTCATTA	0.318000													20	100					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61907789	61907789	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:61907789G>C	ENST00000310144.6	+	6	788	c.480G>C	c.(478-480)gaG>gaC	p.E160D	PSMC5_ENST00000375812.4_Missense_Mutation_p.E152D|PSMC5_ENST00000580864.1_Missense_Mutation_p.E152D|PSMC5_ENST00000581882.1_Missense_Mutation_p.E152D	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	160					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGATCAAGGAGATCAAAGAAG	0.498000													11	30					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885265	77885265	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:77885265C>G	ENST00000354212.4	-	10	2295	c.2042G>C	c.(2041-2043)cGa>cCa	p.R681P	MAGI2_ENST00000522391.1_Missense_Mutation_p.R681P|MAGI2_ENST00000536571.1_Missense_Mutation_p.R513P|MAGI2_ENST00000419488.1_Missense_Mutation_p.R681P|MAGI2_ENST00000535697.1_Missense_Mutation_p.R518P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	681	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTACCTCCTCGATGGATAAT	0.368000													3	33					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57076821	57076821	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:57076821C>T	ENST00000376149.3	-	23	3139		c.e23-1		TRIM37_ENST00000393065.2_Splice_Site|TRIM37_ENST00000393066.3_Splice_Site|TRIM37_ENST00000262294.7_Splice_Site			O94972	TRI37_HUMAN	tripartite motif containing 37							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAATGTGTATCTATGattaaa	0.299000									Mulibrey Nanism				6	56					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50866268	50866268	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:50866268G>A	ENST00000442544.2	+	15	2966	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	DCC_ENST00000412726.1_Missense_Mutation_p.E632K|DCC_ENST00000581580.1_Missense_Mutation_p.E439K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	784	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTATTCCATTGAGAGGTTAGG	0.398000													5	17					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554012	62554012	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:62554012G>C	ENST00000294168.3	+	11	1314	c.1113G>C	c.(1111-1113)aaG>aaC	p.K371N	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	371					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GACTGCTGAAGATGAAGGCCC	0.572000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2131630	2131630	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:2131630G>A	ENST00000219476.3	+	31	4275	c.3645G>A	c.(3643-3645)ccG>ccA	p.P1215P	TSC2_ENST00000439673.2_Silent_p.P1135P|TSC2_ENST00000401874.2_Silent_p.P1171P|TSC2_ENST00000350773.4_Silent_p.P1215P|TSC2_ENST00000568454.1_Silent_p.P1182P|TSC2_ENST00000353929.4_Silent_p.P1172P|TSC2_ENST00000382538.6_Silent_p.P1123P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1215					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAGAACCCGCTCAGCCCTT	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				17	50					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496191	76496191	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:76496191C>T	ENST00000388942.3	+	11	1407	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	377						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCTCAAACTCGGCGGTAATG	0.622000													14	52					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154493369	154493369	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:154493369C>T	ENST00000369454.3	-	1	505	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	69					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGAACCTCTCTTGACCCGCG	0.612000													6	15					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324990	9324990	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:9324990G>A	ENST00000308682.2	-	1	552	c.524C>T	c.(523-525)cCg>cTg	p.P175L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P175L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAAGAAATGCGGAATCTCAGT	0.512000													3	37					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95069870	95069870	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:95069870G>C	ENST00000371501.4	-	53	6176	c.6054C>G	c.(6052-6054)ttC>ttG	p.F2018L	MYOF_ENST00000359263.4_Missense_Mutation_p.F2018L|MYOF_ENST00000371502.4_Missense_Mutation_p.F2008L|MYOF_ENST00000358334.5_Missense_Mutation_p.F2005L			Q9NZM1	MYOF_HUMAN	myoferlin	2018					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCACACGATGAACTTCATGG	0.532000													12	35					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3134823	3134823	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:3134823C>T	ENST00000356443.4	-	16	2543		c.e16-1		MYOM1_ENST00000400569.3_Splice_Site|MYOM1_ENST00000261606.7_Splice_Site	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1							striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGGGGATATCTGAGAAAGAG	0.438000													6	20					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39721171	39721171	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:39721171C>T	ENST00000361337.2	+	9	924	c.674C>T	c.(673-675)cCa>cTa	p.P225L		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	225					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CATAAAGGTCCAGTATTTGCC	0.418000			T	NUP98	AML*								13	39					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402797	248402797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:248402797C>A	ENST00000306687.1	+	1	567	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTATCCTGCACAGAAACAT	0.403000													45	92					3.7052e-28	4.32443e-28	1	1	0
TNS3	64759	broad.mit.edu	37	7	47408374	47408374	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:47408374G>A	ENST00000398879.1	-	17	2235	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	TNS3_ENST00000355730.3_Silent_p.V383V|TNS3_ENST00000311160.9_Silent_p.V623V			Q68CZ2	TENS3_HUMAN	tensin 3	623						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTGGGCCTGGACGAGGCCAG	0.662000													22	36					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20579242	20579242	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:20579242G>C	ENST00000382869.3	+	5	1413	c.1162G>C	c.(1162-1164)Gtt>Ctt	p.V388L	ZMYM2_ENST00000382874.2_Missense_Mutation_p.V388L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V388L|ZMYM2_ENST00000382881.3_Missense_Mutation_p.V301L	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGGAACCATTGTTGCTCAAGT	0.313000													11	26					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89858916	89858916	+	Missense_Mutation	SNP	G	G	A	rs142620413		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:89858916G>A	ENST00000389301.3	-	12	1076	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	FANCA_ENST00000568369.1_Missense_Mutation_p.A349V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	349					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGTGTCCGCGCAAAGCTCCA	0.507000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	40					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57957998	57957998	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:57957998C>T	ENST00000311591.3	+	1	93	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGACGGAGTTCTTCCTTACTG	0.473000													7	26					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902485	40902485	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:40902485C>G	ENST00000324001.7	-	7	2044	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	592	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTTTCATCTCAGGCACCTTT	0.567000													36	112					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123190006	123190006	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:123190006G>C	ENST00000371160.1	+	14	1515	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.D409H|STAG2_ENST00000371145.3_Missense_Mutation_p.D409H|STAG2_ENST00000371157.3_Missense_Mutation_p.D409H|STAG2_ENST00000371144.3_Missense_Mutation_p.D409H|STAG2_ENST00000354548.5_Missense_Mutation_p.D340H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	409					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CACTGCAGAAGATTGTGAAAA	0.358000													12	52					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087431	5087431	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:5087431C>T	ENST00000399604.4	-	1	261	c.121G>A	c.(121-123)Gag>Aag	p.E41K	ZNF594_ENST00000575779.1_Missense_Mutation_p.E41K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AATCTGTCCTCAGAATTACTG	0.433000													10	93					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72300887	72300887	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:72300887G>C	ENST00000550746.1	+	12	1384	c.1320G>C	c.(1318-1320)ttG>ttC	p.L440F	TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L423F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L194F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L431F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	440	Rab-GAP TBC.						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						ATGACATTTTGATGACCTACT	0.284000													4	23					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277388	131277388	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:131277388G>T	ENST00000337057.3	-	2	419	c.238C>A	c.(238-240)Cca>Aca	p.P80T	EPB41L2_ENST00000525193.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P80T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P80T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P80T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.P80T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	80					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ttaagccatggCGGTATGAAC	0.478000													15	57					2.31682e-05	2.45514e-05	1	1	0
TG	7038	broad.mit.edu	37	8	133898888	133898888	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:133898888C>T	ENST00000220616.4	+	9	1311	c.1271C>T	c.(1270-1272)cCa>cTa	p.P424L	TG_ENST00000377869.1_Missense_Mutation_p.P424L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	424					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTCCGCCCAATGGTGGAG	0.542000													41	106					0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64454242	64454242	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:64454242C>G	ENST00000300026.3	-	2	465	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	83	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCACTTACCTCTCCTGTAGCT	0.493000													52	180					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173952641	173952641	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:173952641G>A	ENST00000367696.2	-	4	858	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RC3H1_ENST00000258349.4_Silent_p.L169L|RC3H1_ENST00000367694.2_Silent_p.L169L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	169					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTGGAGAATGAGCTCTGTAA	0.483000													19	53					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39086336	39086336	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:39086336G>C	ENST00000591517.1	-	28	2241	c.2213C>G	c.(2212-2214)cCa>cGa	p.P738R	MAP4K1_ENST00000396857.2_Missense_Mutation_p.P738R|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.P734R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	738	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCCCGGACTGGGGACCCCTC	0.597000													4	10					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3022397	3022397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:3022397C>A	ENST00000397114.3	-	23	2540	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000397111.5_Nonsense_Mutation_p.E732*|CARS_ENST00000380525.4_Nonsense_Mutation_p.E815*|CARS_ENST00000278224.9_3'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	732					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TAGAGCTTCTCCTGAGCCTCG	0.522000			T	ALK	ALCL								9	44					0.000442599	0.000454331	1	1	0
KCTD10	83892	broad.mit.edu	37	12	109889599	109889599	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:109889599C>A	ENST00000228495.6	-	7	1024	c.743G>T	c.(742-744)cGg>cTg	p.R248L	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.R67L|KCTD10_ENST00000540089.1_Missense_Mutation_p.R67L|KCTD10_ENST00000540411.1_Missense_Mutation_p.R222L	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	248					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CTCATAAATCCGGGCTTCGGG	0.617000													18	10					1.50039e-11	1.69092e-11	1	1	0
ACE	1636	broad.mit.edu	37	17	61571015	61571015	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:61571015G>A	ENST00000577647.1	+	9	1454	c.1409G>A	c.(1408-1410)aGc>aAc	p.S470N	ACE_ENST00000290863.6_Missense_Mutation_p.S470N|ACE_ENST00000421982.2_Missense_Mutation_p.S290N|ACE_ENST00000428043.1_Missense_Mutation_p.S1044N|ACE_ENST00000413513.3_Missense_Mutation_p.S470N|ACE_ENST00000290866.4_Missense_Mutation_p.S1044N|ACE_ENST00000490216.2_Missense_Mutation_p.S470N			P12821	ACE_HUMAN	angiotensin I converting enzyme	1044	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGGGTGGCAGCGACGGTGAG	0.627000													4	16					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112839	44112839	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:44112839C>T	ENST00000262726.7	-	9	1024	c.771G>A	c.(769-771)gaG>gaA	p.E257E	EFCAB6_ENST00000396231.2_Silent_p.E105E|EFCAB6_ENST00000358439.4_Silent_p.E151E|EFCAB6_ENST00000356087.4_Silent_p.E151E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGTTGATTCTCCAACGAGA	0.348000													17	45					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39563915	39563915	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:39563915G>A	ENST00000287152.7	-	7	855	c.761C>T	c.(760-762)tCa>tTa	p.S254L	KIF6_ENST00000373213.4_Missense_Mutation_p.S93L|KIF6_ENST00000373215.3_Missense_Mutation_p.S254L|KIF6_ENST00000373216.3_Missense_Mutation_p.S254L|KIF6_ENST00000538893.1_Missense_Mutation_p.S254L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	254	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AACTCGCTCTGAACCAGCCAG	0.473000													5	33					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95611642	95611642	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:95611642G>C	ENST00000436874.1	+	1	121	c.16G>C	c.(16-18)Gac>Cac	p.D6H	VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	6						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACCGGAGTTTGACGAAGAGGT	0.577000													5	19					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121216077	121216077	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:121216077C>G	ENST00000297848.3	+	9	1277	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S336C|COL14A1_ENST00000247781.3_Missense_Mutation_p.S241C|COL14A1_ENST00000537875.1_Missense_Mutation_p.S336C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	336					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACTCTCTGCTCTAGAGTGGAA	0.468000													9	23					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180819034	180819034	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:180819034G>A	ENST00000410053.3	-	16	1886	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	CWC22_ENST00000295749.6_Silent_p.F529F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	529	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTGTTCTTTGAATATACCTT	0.318000													6	15					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95079754	95079754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:95079754C>A	ENST00000371501.4	-	49	5595	c.5473G>T	c.(5473-5475)Gaa>Taa	p.E1825*	MYOF_ENST00000359263.4_Nonsense_Mutation_p.E1825*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E1815*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E1812*			Q9NZM1	MYOF_HUMAN	myoferlin	1825					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGTTTTCTTCATTGCCAGGA	0.433000													12	20					0.000151284	0.000158347	1	1	0
PMS1	5378	broad.mit.edu	37	2	190728613	190728613	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:190728613G>T	ENST00000441310.2	+	10	2234	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	PMS1_ENST00000409823.3_Missense_Mutation_p.K628N|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.K491N|PMS1_ENST00000432292.3_Missense_Mutation_p.K491N	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	667					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGAAGCACAAGTTAAAAACCT	0.373000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					18	66					8.00594e-06	8.59076e-06	1	1	0
LUM	4060	broad.mit.edu	37	12	91497980	91497980	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:91497980C>G	ENST00000266718.4	-	3	1433	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	327					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CGTAGACATTCATACATATCC	0.393000													13	29					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699109	17699109	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:17699109G>A	ENST00000353383.1	+	3	3316	c.2847G>A	c.(2845-2847)atG>atA	p.M949I	RAI1_ENST00000261641.6_Missense_Mutation_p.M949I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	949						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTCACACATGAAGCCAGGTG	0.632000													5	21					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38522391	38522391	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr21:38522391G>A	ENST00000399017.2	+	24	4879	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.G711E|TTC3_ENST00000540756.1_Missense_Mutation_p.G401E|TTC3_ENST00000355666.1_Missense_Mutation_p.G711E	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	711					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTCTACAAGGAATATGTCTT	0.328000													15	60					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51768876	51768876	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:51768876G>C	ENST00000251076.5	-	27	7158	c.6871C>G	c.(6871-6873)Caa>Gaa	p.Q2291E	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1655E|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2292E|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2291						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGAAGTCCTTGATAAGCCATT	0.363000													9	46					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355598	128355598	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:128355598G>A	ENST00000315184.5	+	1	156	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	35										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTGGGAAGAATTCAGGGG	0.512000													17	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577827	179577827	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:179577827G>T	ENST00000589042.1	-	93	27258	c.27034C>A	c.(27034-27036)Cct>Act	p.P9012T	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8695T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P7768T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8695	Ig-like 73.						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)			ACAGTCAAAGGAGCACTACAT	0.343000													7	22					0.000157383	0.000163525	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5487267	5487267	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:5487267C>G	ENST00000345221.3	-	1	565	c.11G>C	c.(10-12)gGa>gCa	p.G4A	NLRP1_ENST00000269280.4_Missense_Mutation_p.G4A|NLRP1_ENST00000262467.5_Missense_Mutation_p.G4A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.G4A|NLRP1_ENST00000577119.1_Missense_Mutation_p.G4A|NLRP1_ENST00000354411.3_Missense_Mutation_p.G4A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	4	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCCAGGCTCCGCCAGCCAT	0.587000													3	7					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058349	19058349	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:19058349G>C	ENST00000380502.3	-	16	2883	c.2416C>G	c.(2416-2418)Cct>Gct	p.P806A	HAUS6_ENST00000380496.1_Missense_Mutation_p.P670A	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	806					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCATGCATAGGACTATTTGGC	0.428000													18	64					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042427	40042427	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:40042427G>A	ENST00000352035.2	-	18	2140	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	ACLY_ENST00000393896.2_Silent_p.L660L|ACLY_ENST00000590151.1_Silent_p.L670L|ACLY_ENST00000537919.1_Silent_p.L399L|ACLY_ENST00000353196.1_Silent_p.L660L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	670					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGATATTGTTGAGCTCGTTGG	0.582000													39	118					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122076	18122076	+	Silent	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr6:18122076A>G	ENST00000340650.3	-	1	775	c.762T>C	c.(760-762)acT>acC	p.T254T		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	254					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCAACCTTTCAGTTCTCCGAA	0.627000													4	22					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61431701	61431701	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:61431701C>A	ENST00000398571.2	-	73	9266	c.9190G>T	c.(9190-9192)Gat>Tat	p.D3064Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3064					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)			TGAAGAAAATCATGGGGACTC	0.343000													10	109					2.27111e-07	2.49998e-07	1	1	0
PCDHGC3	5098	broad.mit.edu	37	5	140856200	140856200	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:140856200G>A	ENST00000308177.3	+	1	621	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAACCTATGAGCTGAGCCG	0.592000													8	34					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43026468	43026468	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:43026468G>C	ENST00000356231.3	-	7	1236	c.1213C>G	c.(1213-1215)Ctg>Gtg	p.L405V		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	405						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGGCCTTGCAGAGCTGGTGAG	0.557000													9	37					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614810	7614810	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:7614810C>T	ENST00000221249.6	+	17	1940	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PNPLA6_ENST00000450331.3_Silent_p.F503F|PNPLA6_ENST00000600737.1_Silent_p.F542F|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.F477F|PNPLA6_ENST00000414982.3_Silent_p.F551F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	542					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCACTTCGTGCTCTGGG	0.632000													7	23					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722154	26722154	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:26722154G>A	ENST00000380573.3	-	2	1356	c.333C>T	c.(331-333)acC>acT	p.T111T	ADRA1A_ENST00000380582.3_Silent_p.T111T|ADRA1A_ENST00000380572.3_Silent_p.T111T|ADRA1A_ENST00000358857.5_Silent_p.T111T|ADRA1A_ENST00000380586.1_Silent_p.T111T|ADRA1A_ENST00000380587.1_Silent_p.T111T|ADRA1A_ENST00000519229.1_Silent_p.T111T|ADRA1A_ENST00000276393.4_Silent_p.T111T|ADRA1A_ENST00000380581.2_Silent_p.T111T|ADRA1A_ENST00000354550.4_Silent_p.T111T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	111					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGATGGACGCGGTGCAGCACA	0.627000													4	19					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48316034	48316034	+	Silent	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:48316034G>T	ENST00000435803.1	+	17	6795	c.6771G>T	c.(6769-6771)ctG>ctT	p.L2257L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2257					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						TTCTCTCTCTGAGAAGCATAG	0.323000													6	23					0.00116845	0.00119081	1	1	0
TTN	7273	broad.mit.edu	37	2	179566962	179566962	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:179566962C>A	ENST00000589042.1	-	108	30668	c.30444G>T	c.(30442-30444)tcG>tcT	p.S10148S	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S9831S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S8904S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9831	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8904S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCGATGACCGAGTAGACAC	0.448000													10	26					9.70103e-10	1.08468e-09	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24832487	24832487	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:24832487G>A	ENST00000376451.2	+	14	3597	c.3337G>A	c.(3337-3339)Gac>Aac	p.D1113N	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1430N			Q5T5P2	SKT_HUMAN	KIAA1217	1430					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGGGACTGACAATGAGGA	0.473000													5	37					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	221792	221792	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:221792G>A	ENST00000326153.4	-	6	812	c.813C>T	c.(811-813)gtC>gtT	p.V271V				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	500						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCTGATGATGACCCTCACGT	0.622000													4	19					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150441747	150441747	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:150441747G>C	ENST00000389378.2	-	4	886	c.298C>G	c.(298-300)Ccc>Gcc	p.P100A	TNIP1_ENST00000522226.1_Missense_Mutation_p.P100A|TNIP1_ENST00000315050.7_Missense_Mutation_p.P100A|TNIP1_ENST00000524280.1_Missense_Mutation_p.P100A|TNIP1_ENST00000523338.1_Missense_Mutation_p.P100A|TNIP1_ENST00000521591.1_Missense_Mutation_p.P100A|TNIP1_ENST00000520931.1_Missense_Mutation_p.P47A|TNIP1_ENST00000518977.1_Missense_Mutation_p.P100A|TNIP1_ENST00000523200.1_Missense_Mutation_p.P100A	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	100	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGCTGTGGGAGATGCTGTG	0.537000													9	26					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102750229	102750229	+	Silent	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:102750229C>G	ENST00000370228.1	+	3	1706	c.1521C>G	c.(1519-1521)gtC>gtG	p.V507V	C10orf2_ENST00000311916.2_Silent_p.V507V|C10orf2_ENST00000473656.1_3'UTR	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	507	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTCTACGTCTATGACATTT	0.473000													22	111					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153577882	153577882	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:153577882A>G	ENST00000422373.1	-	46	7828	c.7580T>C	c.(7579-7581)gTa>gCa	p.V2527A	FLNA_ENST00000360319.4_Missense_Mutation_p.V2527A|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V2495A|FLNA_ENST00000369856.3_Missense_Mutation_p.V668A|FLNA_ENST00000369850.3_Missense_Mutation_p.V2535A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2535	Hinge 2.|Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGAGAGTCTACAAACACTGA	0.667000													20	52					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40525816	40525816	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:40525816G>C	ENST00000372797.3	+	3	751	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	CAP1_ENST00000340450.3_Missense_Mutation_p.E63Q|CAP1_ENST00000372802.1_Missense_Mutation_p.E63Q|CAP1_ENST00000372798.1_Missense_Mutation_p.E63Q|CAP1_ENST00000372805.3_Missense_Mutation_p.E64Q|CAP1_ENST00000372792.2_Missense_Mutation_p.E64Q	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	64					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCAGTAAAGAGATTGGGGG	0.468000													5	28					0	0	1	0	0
FOSL1	8061	broad.mit.edu	37	11	65660635	65660635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:65660635C>A	ENST00000312562.2	-	4	724	c.538G>T	c.(538-540)Gag>Tag	p.E180*	FOSL1_ENST00000531493.1_Nonsense_Mutation_p.E144*|FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Nonsense_Mutation_p.E78*	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	180					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GTGTCCCCCTCCTTGGCTCCT	0.622000													3	16					0.115264	0.115264	1	1	0
FGF13	2258	broad.mit.edu	37	X	137715050	137715050	+	Silent	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:137715050C>A	ENST00000315930.6	-	5	1360	c.699G>T	c.(697-699)ctG>ctT	p.L233L	FGF13_ENST00000370603.3_Silent_p.L243L|FGF13_ENST00000305414.4_Silent_p.L180L|FGF13_ENST00000441825.2_Silent_p.L214L|FGF13_ENST00000541469.1_Silent_p.L187L	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	233					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCCTCCGTTCAGCACGCCAG	0.532000													36	129					7.63091e-17	8.73862e-17	1	1	0
KLHL7	55975	broad.mit.edu	37	7	23183567	23183567	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:23183567C>G	ENST00000339077.5	+	6	959	c.716C>G	c.(715-717)tCa>tGa	p.S239*	KLHL7_ENST00000542558.1_Nonsense_Mutation_p.S14*|KLHL7_ENST00000322231.7_Nonsense_Mutation_p.S217*|KLHL7_ENST00000409689.1_Nonsense_Mutation_p.S191*|KLHL7_ENST00000539124.1_Nonsense_Mutation_p.S163*|KLHL7_ENST00000545443.1_Nonsense_Mutation_p.S217*	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCTTATATCAAAGAATTTC	0.368000													56	63					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45148632	45148632	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:45148632C>T	ENST00000258770.3	-	2	326	c.205G>A	c.(205-207)Gag>Aag	p.E69K	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000494076.1_Missense_Mutation_p.E69K|TBRG4_ENST00000395655.4_Missense_Mutation_p.E69K|TBRG4_ENST00000361278.3_Missense_Mutation_p.E69K	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	69					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						ACCTGCTTCTCTATGTAGGGA	0.547000													8	47					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7224101	7224101	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:7224101G>A	ENST00000399464.2	-	21	3517	c.3502C>T	c.(3502-3504)Ctg>Ttg	p.L1168L	NEURL4_ENST00000570460.1_Silent_p.L1144L|NEURL4_ENST00000315614.7_Silent_p.L1166L	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGGCACCAGAGGTTGGTTG	0.567000													20	46					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134705239	134705239	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:134705239C>T	ENST00000511689.1	-	4	927	c.334G>A	c.(334-336)Gag>Aag	p.E112K	H2AFY_ENST00000510038.1_Missense_Mutation_p.E112K|H2AFY_ENST00000312469.4_Missense_Mutation_p.E112K|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Missense_Mutation_p.E112K	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	112	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTAGCAACTCGGGGTGGATG	0.522000													14	56					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25047231	25047231	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:25047231G>C	ENST00000261192.7	-	3	783	c.257C>G	c.(256-258)tCa>tGa	p.S86*	BCAT1_ENST00000539282.1_Nonsense_Mutation_p.S98*|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.S85*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.S86*|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.S62*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	86					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GTGCAAAGCTGATGAGCCAGG	0.463000													4	33					0	0	1	0	0
MIR541	100126308	broad.mit.edu	37	14	101530878	101530878	+	RNA	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:101530878G>A	ENST00000401360.1	+	0	47					NR_030594.1																						AAAGTTCACAGAATGGGTGGT	0.587000													6	28					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243589797	243589797	+	Missense_Mutation	SNP	G	G	C	rs34075794		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:243589797G>C	ENST00000366541.3	+	16	2040	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R598T|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R496T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	641	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTACAGAGAAGAAATGAAGAA	0.368000													26	27					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185320153	185320153	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:185320153C>G	ENST00000393593.3	-	7	817	c.610G>C	c.(610-612)Gag>Cag	p.E204Q		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	204					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGGTCACCTCTACAACTTGG	0.527000													13	32					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26436542	26436542	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:26436542G>T	ENST00000381655.2	+	33	3321	c.3179G>T	c.(3178-3180)gGa>gTa	p.G1060V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G995V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1020					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATATGAGAGGACAGGTAAGT	0.527000													7	23					0.0381472	0.038237	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73491001	73491001	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:73491001G>C	ENST00000314256.7	+	20	3008	c.2614G>C	c.(2614-2616)Gag>Cag	p.E872Q	KIAA0195_ENST00000579208.1_Missense_Mutation_p.E523Q|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E882Q	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	872					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AATGGGCCTGGAGACAGGCTG	0.587000													29	98					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29523096	29523096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:29523096G>A	ENST00000360150.4	-	3	241	c.166C>T	c.(166-168)Caa>Taa	p.Q56*		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	56					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CATGTATCTTGATATACTGAG	0.279000													25	37					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184800814	184800814	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:184800814G>A	ENST00000335012.2	-	2	924	c.734C>T	c.(733-735)aCg>aTg	p.T245M		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	245										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGTTTCTATCGTTTCAATCAC	0.527000													8	61					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835348	35835348	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:35835348G>C	ENST00000187397.4	+	20	2793	c.2337G>C	c.(2335-2337)ctG>ctC	p.L779L	ARPP21_ENST00000458225.1_Silent_p.L780L|ARPP21_ENST00000337271.5_Silent_p.L760L|ARPP21_ENST00000444190.1_Silent_p.L760L|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Silent_p.L780L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	779						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCTTAGGCTGATTGGCCCAC	0.532000													5	26					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12807343	12807343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:12807343G>T	ENST00000380339.3	-	1	89	c.53C>A	c.(52-54)tCg>tAg	p.S18*	FBXW9_ENST00000587955.1_Nonsense_Mutation_p.S18*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.S18*|FBXW9_ENST00000544494.1_5'UTR			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	18							protein binding	p.S18W(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTCTGGGTCCGAGTCATCGTC	0.677000													9	29					0.00621372	0.00628751	1	1	0
CCDC176	80127	broad.mit.edu	37	14	74516615	74516615	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr14:74516615C>G	ENST00000394009.3	+	8	1126	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	CCDC176_ENST00000553773.1_Missense_Mutation_p.L60V|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		GCAGCACCTTCTTCAGATGAA	0.428000													14	36					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75145501	75145501	+	RNA	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:75145501C>T	ENST00000418756.1	-	0	663					NR_028059.1															lung(1)	1						TGCCGCCACTCCTCCTGGGTG	0.488000													15	46					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11277266	11277266	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:11277266C>T	ENST00000432929.2	-	13	2908	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	KANK2_ENST00000355150.5_Missense_Mutation_p.E842K|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Missense_Mutation_p.E850K|KANK2_ENST00000586659.1_Missense_Mutation_p.E842K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	842										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGGGCTCTCGTCATCTGAC	0.582000													4	41					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43932682	43932682	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:43932682G>A	ENST00000396879.1	-	6	513	c.401C>T	c.(400-402)tCc>tTc	p.S134F	CATSPER2_ENST00000355438.2_Missense_Mutation_p.S134F|CATSPER2_ENST00000354127.4_Missense_Mutation_p.S134F|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S134F|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S140F|STRC_ENST00000541030.1_Intron	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	134					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTATTTGTGGATTCCAGCAA	0.408000													13	100					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114919695	114919695	+	Silent	SNP	G	G	A	rs12359833		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:114919695G>A	ENST00000355995.4	+	14	1893	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	TCF7L2_ENST00000536810.1_Silent_p.K445K|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369397.4_Silent_p.K439K|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Silent_p.K462K|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.K439K|TCF7L2_ENST00000542695.1_Silent_p.K178K|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000369386.1_Silent_p.K88K|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000543371.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	462	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCGCTCCTAAGAAATGCCGAG	0.542000			T	VTI1A	colorectal								5	33					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185833601	185833601	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:185833601G>T	ENST00000271588.4	+	3	568		c.e3-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACTCAACAGGGTGGTGGTG	0.368000													8	37					2.17888e-05	2.31472e-05	1	1	0
ACADM	34	broad.mit.edu	37	1	76215151	76215151	+	Silent	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:76215151C>T	ENST00000370841.4	+	9	1193	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ACADM_ENST00000420607.2_Silent_p.F256F|ACADM_ENST00000543667.1_Silent_p.F63F|ACADM_ENST00000541113.1_Silent_p.F216F|ACADM_ENST00000370834.5_Silent_p.F285F	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	252					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						GAATTGTCTTCGAAGATGTGA	0.348000													21	54					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15920369	15920369	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:15920369G>C	ENST00000380701.3	+	25	4030	c.3702G>C	c.(3700-3702)ttG>ttC	p.L1234F	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1234																	TTGCAGCCTTGAAATCAGAAC	0.348000													29	40					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14746102	14746102	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:14746102C>G	ENST00000253697.3	+	7	1589	c.1137C>G	c.(1135-1137)ttC>ttG	p.F379L	C3orf20_ENST00000435614.1_Missense_Mutation_p.F257L|C3orf20_ENST00000412910.1_Missense_Mutation_p.F257L|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	379						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATTACACCTTCTATGATGGCT	0.483000													22	83					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116603614	116603614	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:116603614G>C	ENST00000369248.4	+	7	1266	c.931G>C	c.(931-933)Gac>Cac	p.D311H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.D311H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	311										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACTGACAGACAGACTTGC	0.493000													13	27					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31837807	31837807	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:31837807A>C	ENST00000397525.1	-	17	2727	c.2504T>G	c.(2503-2505)cTg>cGg	p.L835R	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.L661R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L835R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.L490R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L811R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	835						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCCTGGGCCAGCATCCTCTG	0.557000													10	16					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931407	23931407	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:23931407C>T	ENST00000331837.4	-	1	1043	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	320					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCTAGTCCTCAGAGACACTG	0.582000									Prader-Willi syndrome				6	33					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154636767	154636767	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:154636767G>A	ENST00000274068.4	-	6	670	c.294C>T	c.(292-294)atC>atT	p.I98I	RNF175_ENST00000347063.4_Silent_p.I226I			Q8N4F7	RN175_HUMAN	ring finger protein 175	226						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AGACTGCACAGATATTGTCCG	0.458000													3	15					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135825088	135825088	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:135825088G>C	ENST00000264977.3	+	13	3870	c.3253G>C	c.(3253-3255)Gac>Cac	p.D1085H	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D349H|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D464H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1085					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAGCCCTCAGACTGGGACCG	0.463000													3	18					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115344018	115344018	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:115344018C>T	ENST00000351270.3	+	11	1445	c.1349C>T	c.(1348-1350)tCt>tTt	p.S450F	HABP2_ENST00000542051.1_Missense_Mutation_p.S424F	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	450	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGCCACATCTCTGGCTGGGGT	0.507000													8	26					0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33221059	33221059	+	Missense_Mutation	SNP	C	C	T	rs145070467	by1000genomes	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:33221059C>T	ENST00000379725.1	+	2	205	c.83C>T	c.(82-84)tCg>tTg	p.S28L	SPINK4_ENST00000379723.1_Missense_Mutation_p.S28L			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGGATGCTTCGCACACAGAC	0.522000													15	14					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692793	135692793	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:135692793C>T	ENST00000513104.1	-	2	565	c.283G>A	c.(283-285)Gag>Aag	p.E95K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E95K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E95K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	95					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGCAGCTCCGTGACCTCT	0.602000													12	67					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22332573	22332573	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:22332573G>A	ENST00000240139.5	+	2	483	c.156G>A	c.(154-156)ctG>ctA	p.L52L	PPP3CC_ENST00000289963.8_Silent_p.L52L|PPP3CC_ENST00000518852.1_Silent_p.L52L|PPP3CC_ENST00000397775.3_Silent_p.L52L	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	52					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AAGGACGACTGGAAGAGGAAG	0.403000													4	30					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356692	55356692	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:55356692G>C	ENST00000524622.1	-	7	1237	c.576C>G	c.(574-576)ctC>ctG	p.L192L	TESPA1_ENST00000532804.1_Silent_p.L192L|TESPA1_ENST00000449076.1_Silent_p.L330L|TESPA1_ENST00000531122.1_Silent_p.L192L|TESPA1_ENST00000316577.8_Silent_p.L330L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	330																	AGTCTTGCTGGAGGAACTGCT	0.517000													5	21					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407138	87407138	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:87407138C>A	ENST00000338056.3	+	9	1285	c.874C>A	c.(874-876)Ctt>Att	p.L292I	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L275I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L275I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	292										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACTCTTACGACTTCGAGAGAA	0.368000													25	27					1.50538e-07	1.66138e-07	1	1	0
HTN1	3346	broad.mit.edu	37	4	70918827	70918827	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:70918827C>G	ENST00000511674.1	+	2	105	c.34C>G	c.(34-36)Ctc>Gtc	p.L12V	HTN1_ENST00000246896.3_Missense_Mutation_p.L12V			P15515	HIS1_HUMAN	histatin 1	12					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGTCTTGGCTCTCATGATTTC	0.318000													10	45					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093538	30093538	+	RNA	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr18:30093538C>T	ENST00000567636.1	+	0	1913					NR_003558.1																						GATCACTAATCCCAAGGCAGA	0.483000													29	138					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486247	8486247	+	Missense_Mutation	SNP	C	C	T	rs139171396	byFrequency	TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:8486247C>T	ENST00000381196.4	-	25	3113	c.2570G>A	c.(2569-2571)cGt>cAt	p.R857H	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R857H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R857H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.R835H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R844H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	857	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAATTTTAGACGGTAGCCCTG	0.473000										TSP Lung(15;0.13)			35	46					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117554289	117554289	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:117554289C>G	ENST00000256652.4	+	3	600	c.542C>G	c.(541-543)tCt>tGt	p.S181C	CD101_ENST00000369470.1_Missense_Mutation_p.S181C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	181	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTCACCTCTCTGTCACCTGG	0.502000													11	28					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101908873	101908873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:101908873C>T	ENST00000374994.4	+	7	1354	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R344*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R417*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R336*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	413	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGAAATTGCTCGACGATGTTC	0.393000													15	83					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323194	57323194	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:57323194C>G	ENST00000293502.1	-	3	847	c.704G>C	c.(703-705)gGa>gCa	p.G235A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	235						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATAATCCTCTCCGTAGCTGTC	0.577000													24	17					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441986	6441986	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:6441986G>A	ENST00000348035.4	+	6	701	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.R182Q	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	163					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CTCACACAGCGAGGCCTCAAG	0.537000													26	27					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33058246	33058246	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:33058246C>G	ENST00000307363.5	-	14	1578	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	GLB1_ENST00000399402.3_Missense_Mutation_p.E448D|GLB1_ENST00000307377.8_Missense_Mutation_p.E347D|GLB1_ENST00000445488.2_Missense_Mutation_p.E526D|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	478					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTCCCATGTTCTCTACCAGAA	0.463000													21	95					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25473695	25473695	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr13:25473695C>G	ENST00000381884.4	-	9	3038	c.2853G>C	c.(2851-2853)caG>caC	p.Q951H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q951H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	951					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTTGCTTTCTGTTGTTCGA	0.388000													9	26					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13791096	13791096	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:13791096G>T	ENST00000316715.4	-	8	1328	c.891C>A	c.(889-891)agC>agA	p.S297R	GPM6B_ENST00000454189.2_3'UTR|GPM6B_ENST00000493677.1_Missense_Mutation_p.S271R	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	257					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CCTGCATTTTGCTCGCATCCT	0.428000													17	50					0.000566183	0.000579793	1	1	0
JAG1	182	broad.mit.edu	37	20	10625521	10625521	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:10625521G>C	ENST00000254958.5	-	18	2849	c.2334C>G	c.(2332-2334)atC>atG	p.I778M	JAG1_ENST00000423891.2_Missense_Mutation_p.I619M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	778	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGAGCACAGATGGGCCCCT	0.597000									Alagille Syndrome				17	52					0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57427173	57427173	+	Silent	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:57427173G>C	ENST00000533682.1	+	2	950	c.225G>C	c.(223-225)ctG>ctC	p.L75L	CLP1_ENST00000302731.4_Silent_p.L75L|CLP1_ENST00000525602.1_Silent_p.L75L|CLP1_ENST00000529430.1_Silent_p.L86L			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	75					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CTGTGCAACTGAGCGGCCGCA	0.517000													12	31					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16525749	16525749	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:16525749G>C	ENST00000311331.7	-	6	2542	c.2451C>G	c.(2449-2451)ttC>ttG	p.F817L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTTAGTTCTGAAGGCTTTTC	0.408000													11	53					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193130133	193130133	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr3:193130133G>C	ENST00000342695.4	-	27	3364	c.3042C>G	c.(3040-3042)atC>atG	p.I1014M	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.I30M|ATP13A4_ENST00000392443.3_Missense_Mutation_p.I995M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1014					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTAACTCTGAGATGCTTTCAT	0.388000													31	110					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940047	22940047	+	Silent	SNP	T	T	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:22940047T>G	ENST00000397104.3	-	6	2283	c.2284A>C	c.(2284-2286)Agg>Cgg	p.R762R						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTATGTTTCCTAAGGGTTGAG	0.358000													21	41					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150411896	150411896	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr5:150411896G>T	ENST00000389378.2	-	17	2416	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	TNIP1_ENST00000522226.1_Missense_Mutation_p.Q610K|TNIP1_ENST00000315050.7_Missense_Mutation_p.Q610K|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000523338.1_Missense_Mutation_p.Q610K|TNIP1_ENST00000521591.1_Missense_Mutation_p.Q610K|TNIP1_ENST00000520931.1_Missense_Mutation_p.Q557K|TNIP1_ENST00000518977.1_Missense_Mutation_p.Q610K|TNIP1_ENST00000523200.1_Missense_Mutation_p.Q546K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	610	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGAGCTCTGATTTGGATTT	0.488000													3	15					2.56e-06	2.78204e-06	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64456769	64456769	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr12:64456769G>C	ENST00000355086.3	+	7	1398	c.874G>C	c.(874-876)Gaa>Caa	p.E292Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E252Q|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E292Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	292					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTACAACCTTGAAACCTCCAG	0.438000													12	35					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477916	149477916	+	RNA	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:149477916G>A	ENST00000378016.2	+	0	1687							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGCCCCGCCGAGTGTGCAGT	0.657000													4	19					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223086084	223086084	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:223086084G>T	ENST00000350526.4	-	6	951	c.815C>A	c.(814-816)gCa>gAa	p.A272E	PAX3_ENST00000409551.3_Missense_Mutation_p.A271E|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.A272E|PAX3_ENST00000392069.2_Missense_Mutation_p.A272E|PAX3_ENST00000336840.6_Missense_Mutation_p.A272E|PAX3_ENST00000344493.4_Missense_Mutation_p.A272E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	272					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)		CCTCCATCTTGCACGGCGGTT	0.433000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						25	79					1.64293e-13	1.87136e-13	1	1	0
NF1	4763	broad.mit.edu	37	17	29554250	29554250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:29554250C>T	ENST00000358273.4	+	19	2649	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q756*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	756					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q756*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGCACTTCAGAAAAGAGT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	33					0	0	1	0	0
AP2S1	1175	broad.mit.edu	37	19	47349397	47349397	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:47349397G>C	ENST00000263270.6	-	2	231	c.6C>G	c.(4-6)atC>atG	p.I2M	AP2S1_ENST00000597020.1_De_novo_Start_InFrame|AP2S1_ENST00000352203.4_Missense_Mutation_p.I2M|AP2S1_ENST00000599990.1_Missense_Mutation_p.I4M|AP2S1_ENST00000601649.1_Missense_Mutation_p.I2M|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000601498.1_Missense_Mutation_p.I18M	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	2					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity	p.I2I(1)		central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGATAAAGCGGATCTGGGGGC	0.597000													6	18					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701533	8701533	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr17:8701533G>C	ENST00000329805.4	-	1	1134	c.906C>G	c.(904-906)atC>atG	p.I302M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	302						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCAAGGCTGTGATGCCACACA	0.587000													7	31					0	0	1	0	0
RPS20	6224	broad.mit.edu	37	8	56986656	56986656	+	Silent	SNP	G	G	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr8:56986656G>A	ENST00000519807.1	-	2	191	c.66C>T	c.(64-66)atC>atT	p.I22I	RPS20_ENST00000523936.1_Silent_p.I22I|RPS20_ENST00000009589.3_Silent_p.I22I|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000519606.1_Silent_p.I22I|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Silent_p.I22I|RPS20_ENST00000521262.1_Silent_p.I22I	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	ribosomal protein S20	22					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTGTTAGGGTGATTCGAATTC	0.468000													66	62					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434736	118434736	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr10:118434736G>C	ENST00000369209.3	-	12	1688	c.1584C>G	c.(1582-1584)atC>atG	p.I528M		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	528							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGCGCACCTTGATGACCGCGG	0.652000													3	24					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17836875	17836875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:17836875G>T	ENST00000324096.4	+	5	833	c.682G>T	c.(682-684)Gag>Tag	p.E228*	MAP1S_ENST00000544059.2_Nonsense_Mutation_p.E202*|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	228	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGAGCTGCTGGAGCCCCCGAC	0.677000													3	14					0.00024832	0.000255518	1	1	0
PADI1	29943	broad.mit.edu	37	1	17552596	17552596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:17552596C>T	ENST00000375471.4	+	6	687	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	199					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGCCACAAGCTTGTCTTGAA	0.562000													19	25					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43267410	43267410	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:43267410C>T	ENST00000263246.3	-	11	1615	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	PACSIN2_ENST00000403744.3_Missense_Mutation_p.G472R|PACSIN2_ENST00000337959.4_Missense_Mutation_p.G431R|PACSIN2_ENST00000402229.1_Missense_Mutation_p.G472R|PACSIN2_ENST00000407585.1_Missense_Mutation_p.G431R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	472	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CCAACTTGCCCGTTGTCCAAG	0.627000													6	22					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137801707	137801707	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:137801707C>G	ENST00000371806.3	-	9	1009	c.918G>C	c.(916-918)tgG>tgC	p.W306C		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	306	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCGCCGCACTCCAGTTGATAC	0.562000													44	22					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458911	16458912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:16458911_16458912insA	ENST00000358432.5	-	12	2230_2231	c.2076_2077insT	c.(2074-2079)actgagfs	p.E693fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	693	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCATGTACTCAGTGATGATCA	0.614													21	31	---	---	---	---					
SH3D21	79729	broad.mit.edu	37	1	36785375	36785376	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr1:36785375_36785376insC	ENST00000453908.2	+	14	1139_1140	c.1111_1112insC	c.(1111-1113)gccfs	p.A371fs	SH3D21_ENST00000505871.1_Frame_Shift_Ins_p.A260fs|SH3D21_ENST00000426732.2_Frame_Shift_Ins_p.A255fs|SH3D21_ENST00000312808.4_Frame_Shift_Ins_p.A17fs	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	255										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TCCAGAGAACGCCCCCAGCTCC	0.629													2	4	---	---	---	---					
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098956	+	In_Frame_Del	DEL	GACTTACTCCAA	GACTTACTCCAA	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:178098945_178098956delGACTTACTCCAA	ENST00000397062.3	-	2	643_654	c.89_100delTTGGAGTAAGTC	c.(88-102)cttggagtaagtcga>cga	p.LGVS30del	NFE2L2_ENST00000446151.2_In_Frame_Del_p.LGVS14del|NFE2L2_ENST00000464747.1_In_Frame_Del_p.LGVS14del|NFE2L2_ENST00000397063.4_In_Frame_Del_p.LGVS14del|NFE2L2_ENST00000423513.1_In_Frame_Del_p.LGVS14del	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31A(5)|p.R34G(4)|p.G31R(2)|p.V32G(2)|p.L30R(2)|p.L30H(1)|p.V32del(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCAAGATCTATATC	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	32	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196852856	196852857	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:196852856_196852857delCT	ENST00000312428.6	-	13	1550_1551	c.1450_1451delAG	c.(1450-1452)agtfs	p.S484fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	484	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTGCCACACTCTCTTTCATA	0.371													9	33	---	---	---	---					
UGT1A1	54658	broad.mit.edu	37	2	234669649	234669650	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr2:234669649_234669650delAG	ENST00000360418.3	+	1	716_717	c.716_717delAG	c.(715-717)cagfs	p.Q239fs	UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Frame_Shift_Del_p.Q239fs|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608383.1_Frame_Shift_Del_p.Q239fs|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron			P22309	UD11_HUMAN		239					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GAATTCCTTCAGAGAGAGGTGA	0.490													22	60	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187534472	187534473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr4:187534472_187534473insG	ENST00000441802.2	-	13	9462_9463	c.9253_9254insC	c.(9253-9255)cttfs	p.L3085fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3085	Cadherin 28.				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						CTCACGATCAAGGGGGGTTGAC	0.446										HNSCC(5;0.00058)			8	37	---	---	---	---					
ACTL6B	51412	broad.mit.edu	37	7	100253457	100253457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:100253457delC	ENST00000160382.5	-	2	177	c.71delG	c.(70-72)cgcfs	p.R24fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	24					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTACCCAGCGCGGACTGAGAA	0.617													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100366382	100366382	+	RNA	DEL	G	G	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr7:100366382delG	ENST00000542585.1	+	0	5301				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGAGGGGCTGGGCCTGGGAA	0.637													2	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													4	5	---	---	---	---					
ALG8	79053	broad.mit.edu	37	11	77815401	77815401	+	Splice_Site	DEL	C	C	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr11:77815401delC	ENST00000376156.3	-	11	1280		c.e11+1		ALG8_ENST00000532552.2_Splice_Site|ALG8_ENST00000299626.5_Splice_Site	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			ACGCTGTTTACCTGGTGCAGT	0.398													2	4	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													3	5	---	---	---	---					
MEIS2	4212	broad.mit.edu	37	15	37329015	37329018	+	Splice_Site	DEL	TGTG	TGTG	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:37329015_37329018delTGTG	ENST00000338564.5	-	9	1343_1346	c.897_900delCACA	c.(895-900)ctcaca>ct	p.LT299fs	MEIS2_ENST00000559561.1_Splice_Site_p.LT299fs|MEIS2_ENST00000559085.1_Splice_Site_p.LT286fs|MEIS2_ENST00000561208.1_Splice_Site_p.LT299fs|MEIS2_ENST00000219869.9_Splice_Site_p.LT153fs|MEIS2_ENST00000382766.2_Splice_Site_p.LT299fs|MEIS2_ENST00000397624.3_Splice_Site_p.LT211fs|MEIS2_ENST00000444725.1_Splice_Site_p.LT299fs|MEIS2_ENST00000557796.2_Splice_Site_p.LT286fs|MEIS2_ENST00000397620.2_Splice_Site_p.LT211fs|MEIS2_ENST00000340545.5_Splice_Site_p.LT286fs|MEIS2_ENST00000424352.2_Splice_Site_p.LT299fs	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	299					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTGACTTACTGTGAGATGCTGGA	0.358													22	71	---	---	---	---					
NEDD4	4734	broad.mit.edu	37	15	56132708	56132708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:56132708delG	ENST00000508342.1	-	17	3524	c.3225delC	c.(3223-3225)ttcfs	p.F1075fs	NEDD4_ENST00000435532.3_Frame_Shift_Del_p.F656fs|NEDD4_ENST00000338963.2_Frame_Shift_Del_p.F1003fs|NEDD4_ENST00000506154.1_Frame_Shift_Del_p.F1059fs	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1075	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATGGGCGGATGAAAAAACCTT	0.308													9	32	---	---	---	---					
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	7	---	---	---	---					
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr16:29825016delC	ENST00000300797.6	+	2	815	c.641delC	c.(640-642)gccfs	p.A214fs	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane		p.R217fs*12(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652													3	6	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45790754	45790754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr19:45790754delG	ENST00000300843.4	+	13	1623	c.1326delG	c.(1324-1326)acgfs	p.T442fs	MARK4_ENST00000262891.4_Frame_Shift_Del_p.T442fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	442					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGACGAGCACGGGGGAGGCGG	0.706													2	4	---	---	---	---					
SLA2	84174	broad.mit.edu	37	20	35242756	35242757	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr20:35242756_35242757insGG	ENST00000262866.4	-	7	1038_1039	c.616_617insCC	c.(616-618)ctafs	p.L206fs	SLA2_ENST00000360672.2_Frame_Shift_Ins_p.P189fs	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	206	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGTCACAGGTAGGGGTATATCC	0.559													19	96	---	---	---	---					
XKR3	150165	broad.mit.edu	37	22	17288968	17288969	+	Translation_Start_Site	INS	-	-	T			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chr22:17288968_17288969insT	ENST00000331428.5	-	0	97_98					NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3							integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCCATTCTCAGGGTGCTGCTA	0.381													9	37	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135488065	135488065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAN5-01A-11D-A42E-08	TCGA-XF-AAN5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18360697-8f8a-4d72-988e-20c536eff6f4	cfc3276f-eddd-47b1-a93a-1bdbc366853c	g.chrX:135488065delT	ENST00000394143.1	+	23	9160	c.8869delT	c.(8869-8871)tttfs	p.F2958fs	GPR112_ENST00000287534.4_Frame_Shift_Del_p.F2711fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.F2753fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.F2753fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.F2958fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2958					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGGTTTGCATTTTTTGCTTG	0.453													29	130	---	---	---	---