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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	139					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8501089	8501089	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:8501089G>A	ENST00000262648.3	-	14	2139	c.1990C>T	c.(1990-1992)Cat>Tat	p.H664Y		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	664					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGCTTAAGATGAGATCCTAAA	0.338000													10	31					0	0	1	0	0
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11									p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577000													4	16					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													4	46					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78367292	78367292	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:78367292G>A	ENST00000582970.1	+	68	15761	c.15618G>A	c.(15616-15618)atG>atA	p.M5206I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.M3279I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.M5255I|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCGAGAAATGAGATAGAATT	0.478000													5	42					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438720	58438720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:58438720G>A	ENST00000396147.1	-	4	1120	c.829C>T	c.(829-831)Cag>Tag	p.Q277*	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.Q192*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.Q298*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.Q277*	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACTCGCTGATGCTGAACA	0.438000													4	172					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064264	30064264	+	Missense_Mutation	SNP	G	G	A	rs146287841		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr20:30064264G>A	ENST00000201979.2	+	2	309	c.16G>A	c.(16-18)Gag>Aag	p.E6K	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	6					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCAACACCGAGCAGGAAGC	0.597000													27	120					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154142875	154142875	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:154142875C>T	ENST00000368533.3	-	7	717		c.e7+1		TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000368530.2_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000302206.5_Splice_Site	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					AGGTTCCATACCTTCCAGGTC	0.433000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								19	80					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													5	30					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97017702	97017702	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr2:97017702C>T	ENST00000455200.1	+	7	1116	c.821C>T	c.(820-822)aCg>aTg	p.T274M	NCAPH_ENST00000240423.4_Missense_Mutation_p.T285M|NCAPH_ENST00000427946.1_Missense_Mutation_p.T149M			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	285					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACTCTCTCCACGGGAGAACCT	0.478000													30	110					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545520	1545520	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:1545520G>T	ENST00000262319.6	+	3	788	c.509G>T	c.(508-510)cGc>cTc	p.R170L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	170						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGGGCAACCGCCTGCAGCAG	0.667000													11	33					0.00010058	0.000110547	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153251911	153251911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:153251911C>T	ENST00000281708.4	-	7	2324	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*	FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W189*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W247*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W365*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W285*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W365*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCCTCGCCTCCAGTTAGTAT	0.393000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								18	116					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309913	56309913	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr11:56309913G>A	ENST00000528616.2	-	1	844	c.821C>T	c.(820-822)gCt>gTt	p.A274V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GTAAAAGACAGCTATTATTTT	0.398000													14	64					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77256982	77256982	+	Silent	SNP	A	A	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr14:77256982A>G	ENST00000251089.2	-	9	1936	c.1824T>C	c.(1822-1824)gcT>gcC	p.A608A	ANGEL1_ENST00000557179.1_Silent_p.A173A	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	608										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CACAGGACTCAGCTGAGAAGA	0.532000													8	77					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32811904	32811904	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr22:32811904C>G	ENST00000397452.1	-	15	1509	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	BPIFC_ENST00000432451.2_Missense_Mutation_p.E224Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E467Q|BPIFC_ENST00000534972.1_Missense_Mutation_p.E191Q			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	467						extracellular region	lipopolysaccharide binding|phospholipid binding										ATTCTTACCTCAAGAACTTCA	0.343000													5	14					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504037	123504037	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:123504037G>A	ENST00000371139.4	+	3	512	c.213G>A	c.(211-213)ggG>ggA	p.G71G	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000360027.4_Silent_p.G71G|SH2D1A_ENST00000477673.2_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	71	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGCACCTGGGGTACATAAAA	0.363000													16	194					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118982015	118982015	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr11:118982015G>A	ENST00000336702.3	+	6	1200	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A29T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	281						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGCTCAGCCAGCCATCCCCAG	0.557000													5	246					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													4	45					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155014	155014	+	RNA	SNP	T	T	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:155014T>A	ENST00000510175.1	+	0	449							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GGCAAATCATTTCACGTGCTC	0.333000													4	37					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165340	139165340	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:139165340G>C	ENST00000395297.1	-	13	1548	c.1378C>G	c.(1378-1380)Ctt>Gtt	p.L460V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	460										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACAAGACAAGGTCTTCCCTA	0.373000										HNSCC(54;0.14)			17	58					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73530188	73530188	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr7:73530188G>C	ENST00000418310.1	+	13	1659	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	LIMK1_ENST00000336180.2_Missense_Mutation_p.K489N|LIMK1_ENST00000538333.3_Missense_Mutation_p.K455N			P53667	LIMK1_HUMAN	LIM domain kinase 1	489	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGACGAGAAGACTCAGCCTG	0.602000													6	67					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525363	248525363	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:248525363C>A	ENST00000366475.1	+	1	481	c.481C>A	c.(481-483)Cct>Act	p.P161T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTGCCATCCTCTCCGTTA	0.522000													18	249					4.75885e-15	5.69196e-15	1	1	0
MYOF	26509	broad.mit.edu	37	10	95139625	95139625	+	Silent	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr10:95139625G>T	ENST00000371501.4	-	21	2118	c.1996C>A	c.(1996-1998)Cgg>Agg	p.R666R	MYOF_ENST00000358334.5_Silent_p.R653R|MYOF_ENST00000359263.4_Silent_p.R666R|MYOF_ENST00000371502.4_Silent_p.R666R			Q9NZM1	MYOF_HUMAN	myoferlin	666					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						CTTACCAGCCGTTCTGCCATA	0.483000													10	54					0.00621372	0.00653512	1	1	0
GSTM1	2944	broad.mit.edu	37	1	110231939	110231939	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:110231939C>G	ENST00000309851.5	+	5	406	c.352C>G	c.(352-354)Cca>Gca	p.P118A	GSTM1_ENST00000369823.2_Missense_Mutation_p.P137A|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_3'UTR|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.P118A|GSTM1_ENST00000483399.2_3'UTR|GSTM1_ENST00000349334.3_Missense_Mutation_p.P118A	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	118	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CTGCTACAATCCAGAATTTGT	0.512000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				4	9					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530798	84530798	+	RNA	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr9:84530798G>C	ENST00000527857.1	+	0	820					NR_026851.1																						CCTGAGGCCAGTTTGTCTCTG	0.488000													7	108					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393467	164393467	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:164393467T>C	ENST00000280605.3	-	1	1580	c.1420A>G	c.(1420-1422)Att>Gtt	p.I474V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	474						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGGTTCGAATGAAGCACATT	0.453000													25	80					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70367906	70367906	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:70367906C>T	ENST00000374051.3	+	2	629	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	NLGN3_ENST00000358741.3_Missense_Mutation_p.P103S|NLGN3_ENST00000536169.1_Missense_Mutation_p.P103S	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	103					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CACACACTTTCCCCCAGTGTG	0.617000													16	58					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46511436	46511436	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:46511436C>A	ENST00000263284.2	+	6	599	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	CCDC61_ENST00000536603.1_Missense_Mutation_p.P143Q|CCDC61_ENST00000594087.1_Missense_Mutation_p.P143Q|CCDC61_ENST00000595358.1_Missense_Mutation_p.P143Q					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CAGGGCAAGCCAGACCCCGTG	0.602000													3	33					0.004672	0.00495638	1	1	0
PALLD	23022	broad.mit.edu	37	4	169433211	169433211	+	Missense_Mutation	SNP	G	G	A	rs139434937		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:169433211G>A	ENST00000261509.6	+	2	767	c.556G>A	c.(556-558)Gca>Aca	p.A186T	PALLD_ENST00000505667.1_Missense_Mutation_p.A186T|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.A63T	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	186					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATTTAAAGCCGCAAAGCCAAG	0.512000									Pancreatic Cancer, Familial Clustering of				4	177					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23857516	23857516	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr14:23857516C>T	ENST00000405093.3	-	30	4277	c.4207G>A	c.(4207-4209)Gag>Aag	p.E1403K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1403K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1403					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACGGCCTCCTCGGCATCCTGC	0.592000													17	85					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49698956	49698956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:49698956C>T	ENST00000433368.2	-	7	668	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CRISP3_ENST00000393666.1_Nonsense_Mutation_p.W177*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.W208*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.W87*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.W190*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	177					innate immune response	proteinaceous extracellular matrix|specific granule		p.W177L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCTATTAGCCCAATTACCACT	0.343000													5	58					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9004350	9004350	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr2:9004350G>C	ENST00000305997.3	-	10	1200	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	334					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAACATCTTGAAACTTGTTG	0.294000													16	71					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151169	11151169	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:11151169C>T	ENST00000544779.1	-	5	550	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	EXOSC10_ENST00000304457.7_Missense_Mutation_p.R182Q|EXOSC10_ENST00000376936.4_Missense_Mutation_p.R182Q			Q01780	EXOSX_HUMAN	exosome component 10	182					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAGCTGAGGTCGGATGATATT	0.383000													28	149					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49050981	49050981	+	Splice_Site	SNP	T	T	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr13:49050981T>G	ENST00000267163.4	+	25	2801		c.e25+2		RB1_ENST00000484879.1_Splice_Site	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGGAAGGTAGGAACCAGT	0.453000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			26	87					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542646	61542646	+	Missense_Mutation	SNP	C	C	A	rs147853306		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr20:61542646C>A	ENST00000266070.4	-	3	644	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S	DIDO1_ENST00000354665.4_Missense_Mutation_p.A107S|DIDO1_ENST00000370366.1_Missense_Mutation_p.A107S|DIDO1_ENST00000370371.4_Missense_Mutation_p.A107S|DIDO1_ENST00000395340.1_Missense_Mutation_p.A107S|DIDO1_ENST00000370368.1_Missense_Mutation_p.A107S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A107S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A107S|DIDO1_ENST00000266071.5_Missense_Mutation_p.A107S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	107					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGTCTCGGCGTCTGTGGCG	0.652000													3	40					0.004672	0.00495638	1	1	0
TEX11	56159	broad.mit.edu	37	X	69749013	69749013	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:69749013C>A	ENST00000395889.2	-	31	2910	c.2755G>T	c.(2755-2757)Gtg>Ttg	p.V919L	TEX11_ENST00000344304.3_Missense_Mutation_p.V919L|TEX11_ENST00000374320.2_Missense_Mutation_p.V594L|TEX11_ENST00000374333.2_Missense_Mutation_p.V904L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	919							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AATGCTTCCACAAGCTGACTA	0.433000													9	53					0.0477658	0.0489699	1	1	0
BPTF	2186	broad.mit.edu	37	17	65850819	65850819	+	Silent	SNP	A	A	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:65850819A>G	ENST00000321892.4	+	2	1438	c.1377A>G	c.(1375-1377)gaA>gaG	p.E459E	BPTF_ENST00000306378.6_Silent_p.E459E|BPTF_ENST00000335221.5_Silent_p.E459E|BPTF_ENST00000424123.3_Silent_p.E320E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	459					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCGACATGAACCTATTGGAT	0.378000													14	42					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816386	82816386	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr5:82816386C>G	ENST00000265077.3	+	7	2826	c.2261C>G	c.(2260-2262)aCa>aGa	p.T754R	VCAN_ENST00000342785.4_Missense_Mutation_p.T754R|VCAN_ENST00000512590.2_Missense_Mutation_p.T706R|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	754	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACATTGATAACAAAGTTAAGT	0.378000													9	56					0	0	1	0	0
DEDD	9191	broad.mit.edu	37	1	161092302	161092302	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:161092302G>A	ENST00000392188.1	-	6	916	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	DEDD_ENST00000490843.2_Missense_Mutation_p.R198W|DEDD_ENST00000545495.1_Missense_Mutation_p.R198W|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.R198W|DEDD_ENST00000368005.1_Missense_Mutation_p.R228W|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R198W			O75618	DEDD_HUMAN	death effector domain containing	198					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCCGAACCCGCAGTCTGATG	0.478000													24	98					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57066685	57066685	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:57066685C>G	ENST00000301318.3	+	8	2602	c.2531C>G	c.(2530-2532)tCt>tGt	p.S844C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ACATGCCCCTCTTTACCTTCC	0.438000													48	361					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101981110	101981110	+	Silent	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr9:101981110G>T	ENST00000476832.1	-	2	418	c.357C>A	c.(355-357)gcC>gcA	p.A119A	ALG2_ENST00000319033.6_Silent_p.A26A	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	119					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTGGGATACAGGCAGACACCT	0.468000													5	65					3.59834e-05	4.06479e-05	1	1	0
AUP1	550	broad.mit.edu	37	2	74754679	74754679	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr2:74754679C>T	ENST00000377526.3	-	9	1189	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	360						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						AGTTGCACATCAGGAGAAGGA	0.502000													30	134					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389791	22389791	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:22389791G>A	ENST00000334304.5	-	19	3772	c.3503C>T	c.(3502-3504)tCa>tTa	p.S1168L	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1168					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGGCGGCTTGAGTGCACATT	0.468000													11	70					0	0	1	0	0
COMMD5	28991	broad.mit.edu	37	8	146076561	146076561	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:146076561C>G	ENST00000450361.2	-	2	584	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	COMMD5_ENST00000402718.3_Missense_Mutation_p.V55L|COMMD5_ENST00000305103.3_Missense_Mutation_p.V55L	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	55						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CTGCTGACCACAAACTTCAGC	0.632000													26	70					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231770	54231770	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:54231770G>A	ENST00000401642.3	-	1	472	c.339C>T	c.(337-339)ctC>ctT	p.L113L	SCFD2_ENST00000388940.4_Silent_p.L113L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	113					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GATTAGCTGTGAGGTGGACAG	0.602000													8	29					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294321	110294321	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:110294321G>A	ENST00000369805.3	-	16	1750	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	EPS8L3_ENST00000361965.4_Silent_p.P506P|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.P476P	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	506	SH3.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCGGCTGTAGGGGCTCCAGGA	0.622000													18	85					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799064	20799064	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:20799064C>T	ENST00000327925.5	-	1	389	c.270G>A	c.(268-270)tcG>tcA	p.S90S	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	90										large_intestine(3)|lung(3)|skin(1)	7						GGACGTCGCCCGACCGGGCAG	0.642000													32	98					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244538	41244538	+	Nonsense_Mutation	SNP	C	C	A	rs80357617		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:41244538C>A	ENST00000309486.4	-	9	3149	c.2122G>T	c.(2122-2124)Gag>Tag	p.E708*	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1004*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E957*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1004*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1004*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1004*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1004					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAATGTTCCTCAAAGTTTTCC	0.333000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			20	85					5.03518e-11	5.8504e-11	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	95993758	95993758	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:95993758G>C	ENST00000324765.8	+	3	686	c.339G>C	c.(337-339)atG>atC	p.M113I	DIAPH2_ENST00000373054.4_Missense_Mutation_p.M102I|DIAPH2_ENST00000373061.3_Missense_Mutation_p.M113I|DIAPH2_ENST00000355827.4_Missense_Mutation_p.M113I|DIAPH2_ENST00000373049.4_Missense_Mutation_p.M113I			O60879	DIAP2_HUMAN	diaphanous-related formin 2	113	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGAAAAAATGATGGTAAGTT	0.363000													9	84					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670445	131670445	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr9:131670445C>T	ENST00000259324.5	+	3	1525	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	LRRC8A_ENST00000372599.3_Silent_p.L334L|LRRC8A_ENST00000372600.4_Silent_p.L334L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	334					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCTACGGCCTCATCTGCATGT	0.582000													12	93					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8794166	8794166	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:8794166C>T	ENST00000447110.1	-	7	670	c.546G>A	c.(544-546)ctG>ctA	p.L182L	PIK3R5_ENST00000584803.1_Silent_p.L182L|PIK3R5_ENST00000581552.1_Silent_p.L182L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	182					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGGCGTACTCAGCTTATTGG	0.647000													6	22					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004383	101004383	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr14:101004383G>A	ENST00000556751.1	-	5	4917	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S	BEGAIN_ENST00000443071.2_Missense_Mutation_p.P569S|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P569S			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	569						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCAGTCCGCGGAAAGGCCTGC	0.687000													7	23					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080766	57080766	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:57080766C>T	ENST00000316981.3	-	4	542	c.63G>A	c.(61-63)ggG>ggA	p.G21G	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Silent_p.G21G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	21	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCTTACGTTTCCCTGAAGGGA	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								20	46					0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106888521	106888521	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:106888521G>A	ENST00000372435.4	+	5	767	c.645G>A	c.(643-645)gtG>gtA	p.V215V	PRPS1_ENST00000543248.1_Silent_p.V215V|PRPS1_ENST00000372428.4_Silent_p.V148V|PRPS1_ENST00000372418.1_Silent_p.V115V	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	215	Binding of phosphoribosylpyrophosphate (Potential).				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						AGGATCGGGTGGCCATCCTTG	0.502000													100	256					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159178327	159178327	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:159178327C>T	ENST00000297239.9	+	13	1416	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F	SYTL3_ENST00000367081.3_Missense_Mutation_p.L134F|SYTL3_ENST00000360448.3_Missense_Mutation_p.L340F			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	408	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAGAGTGTTTCTTGGAGAAGT	0.602000													11	36					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41822463	41822463	+	Missense_Mutation	SNP	G	G	A	rs147264663	byFrequency	TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:41822463G>A	ENST00000269967.3	+	2	343	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	74										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCCGCCAGCCGCCTGCCTGTT	0.607000													5	48					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150480226	150480226	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr3:150480226G>A	ENST00000312960.3	-	1	938	c.411C>T	c.(409-411)ccC>ccT	p.P137P	SIAH2-AS1_ENST00000461943.1_RNA	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	137	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTACCTTACAGGGAAACAGGA	0.677000													4	17					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67477707	67477707	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr13:67477707G>T	ENST00000544246.1	-	3	3758	c.3067C>A	c.(3067-3069)Cct>Act	p.P1023T	PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1023T|PCDH9_ENST00000328454.5_Intron	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1023					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTGACAGGAATATTGTCA	0.408000													4	55					0.00024832	0.000270491	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165991	172165991	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr3:172165991G>A	ENST00000241256.2	-	1	255	c.213C>T	c.(211-213)ttC>ttT	p.F71F	GHSR_ENST00000427970.1_Silent_p.F71F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	71					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCTCGCGGAAGCGCGACA	0.662000													16	94					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28843837	28843837	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:28843837G>A	ENST00000336783.4	+	12	1704	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ATXN2L_ENST00000382686.4_Missense_Mutation_p.E513K|ATXN2L_ENST00000564304.1_Missense_Mutation_p.E519K|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E513K|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E513K|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E513K|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E513K	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	513						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCTACCAAGGAACCTGGGAG	0.468000													21	135					0	0	1	0	0
FBXO8	26269	broad.mit.edu	37	4	175183939	175183939	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr4:175183939G>T	ENST00000393674.2	-	2	1167	c.305C>A	c.(304-306)gCg>gAg	p.A102E	FBXO8_ENST00000503293.1_Missense_Mutation_p.A61E	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	102	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCATCATTCGCAAGGTCCTG	0.388000													5	42					8.12818e-05	9.0149e-05	1	1	0
GPR83	10888	broad.mit.edu	37	11	94126690	94126690	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr11:94126690G>T	ENST00000243673.2	-	3	779	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	GPR83_ENST00000539203.2_Missense_Mutation_p.P161Q	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	203						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATAGCATGTGGGAGTGAAAA	0.483000													19	65					5.03518e-11	5.8504e-11	1	1	0
HIPK4	147746	broad.mit.edu	37	19	40886785	40886785	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:40886785G>A	ENST00000291823.2	-	3	1397	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	371						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGCAGCGAGAGGCGGTAGC	0.667000													32	144					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901330	51901330	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:51901330C>T	ENST00000268919.4	+	1	1092	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	312	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T312T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACGTACACCATGGGTGGAG	0.542000													24	88					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGGCAGCACGCATCCTGGG	0.517000													46	114					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068434	48068434	+	Translation_Start_Site	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr7:48068434G>A	ENST00000453192.2	-	0	211				SUN3_ENST00000297325.4_Silent_p.D34D|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_Silent_p.D34D	NM_001284350.1	NP_001271279.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3							integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGATTTTCGTCCTCTGATA	0.458000													24	105					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	rs28934874		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:7578479G>C	ENST00000420246.2	-	5	583	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	46					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513538	26513538	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr10:26513538A>T	ENST00000376261.3	+	6	1185	c.682A>T	c.(682-684)Att>Ttt	p.I228F	GAD2_ENST00000259271.3_Missense_Mutation_p.I228F|GAD2_ENST00000376248.1_Missense_Mutation_p.I114F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	228					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAGAGAAATCATTGGCTGGCC	0.388000													15	77					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124250180	124250180	+	Splice_Site	SNP	T	T	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:124250180T>C	ENST00000276704.4	-	3	266	c.215A>G	c.(214-216)aAa>aGa	p.K72R	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Splice_Site_p.K40R	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	72							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGCAGTGCTTTCTGGAAATT	0.378000													7	68					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647000													4	124					0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133294599	133294599	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr12:133294599C>G	ENST00000498926.2	+	5	670	c.612C>G	c.(610-612)atC>atG	p.I204M	PGAM5_ENST00000543955.1_Missense_Mutation_p.I55M|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.I204M|PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.I55M	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	204						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GAGCCCGGATCGAGGCCGCCT	0.622000													29	54					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104121997	104121997	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:104121997G>C	ENST00000361355.4	+	12	2027	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	471					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATTTCTGGAGATAAAATTAA	0.348000													49	348					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572086	76572086	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:76572086C>T	ENST00000307431.8	+	20	3451	c.3066C>T	c.(3064-3066)aaC>aaT	p.N1022N	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.N974N|CNTNAP4_ENST00000478060.1_Silent_p.N950N|CNTNAP4_ENST00000476707.1_Silent_p.N1026N	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1023					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAGTAAAAACTCCAGCTCCC	0.338000													4	41					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23476496	23476496	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr20:23476496C>T	ENST00000246012.1	+	4	731	c.374C>T	c.(373-375)gCa>gTa	p.A125V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	125						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGGTAGGAGCACTTCCCTGG	0.358000													31	122					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75149164	75149164	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:75149164G>A	ENST00000300051.4	-	3	305	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	LDHD_ENST00000450168.2_Missense_Mutation_p.R87C	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	87	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						ACACCTTGGCGATAGCACAGG	0.652000													33	168					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45294956	45294956	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:45294956C>T	ENST00000447098.2	-	10	1255	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.R415Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	415	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGTCCCACCGCAGCATGGT	0.701000									Basal Cell Nevus syndrome				11	61					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177031246	177031246	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr5:177031246C>T	ENST00000029410.5	+	2	228	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	39					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCCTGCCTCTCGCTGGGCT	0.692000													11	33					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30672756	30672756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr18:30672756G>C	ENST00000383096.3	-	21	2539	c.2357C>G	c.(2356-2358)tCa>tGa	p.S786*	CCDC178_ENST00000406524.2_Nonsense_Mutation_p.S786*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.S786*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.S786*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.S748*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.S786*					coiled-coil domain containing 178																		AGTATCAAGTGATAGCTGTTT	0.284000													4	56					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8389393	8389393	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr9:8389393C>G	ENST00000381196.4	-	34	4768	c.4225G>C	c.(4225-4227)Gac>Cac	p.D1409H	PTPRD_ENST00000358503.5_Missense_Mutation_p.D1387H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1003H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1002H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1409H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1002H|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1002H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1396H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1409H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D999H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D999H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1409	Tyrosine-protein phosphatase 1.				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)		TTCACATAGTCACTTCCTGGG	0.453000										TSP Lung(15;0.13)			34	144					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42394859	42394859	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:42394859C>T	ENST00000225441.7	+	11	1442	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.S397L|RUNDC3A_ENST00000426726.3_Intron	NM_001144826.1|NM_006695.4	NP_001138298.1|NP_006686.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	0					small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ccaggaagctcagagccaaat	0.502000													14	34					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111896845	111896845	+	Splice_Site	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:111896845C>A	ENST00000368761.5	-	4	1680		c.e4+1		TRAF3IP2_ENST00000392556.4_Splice_Site|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000359831.4_Splice_Site|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000340026.6_Splice_Site	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2						intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AAACAACTTACGCAATTCTTC	0.498000													18	61					5.01169e-05	5.60942e-05	1	1	0
CHD3	1107	broad.mit.edu	37	17	7810488	7810488	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:7810488C>G	ENST00000380358.4	+	31	4889	c.4888C>G	c.(4888-4890)Ctt>Gtt	p.L1630V	CHD3_ENST00000330494.7_Missense_Mutation_p.L1571V|CHD3_ENST00000358181.4_Missense_Mutation_p.L1571V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1571	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAGGACACCTCTTGAGAAGGA	0.532000													17	54					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	84					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371026	48371026	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr10:48371026A>T	ENST00000395702.2	+	2	721	c.494A>T	c.(493-495)aAa>aTa	p.K165I	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K58I			Q96MN9	ZN488_HUMAN	zinc finger protein 488	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCCTTTAGCAAACCAACCAAG	0.587000													12	58					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112476862	112476862	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:112476862C>G	ENST00000230538.7	-	15	2261	c.1864G>C	c.(1864-1866)Gat>Cat	p.D622H	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.D615H|LAMA4_ENST00000424408.2_Missense_Mutation_p.D615H|LAMA4_ENST00000522006.1_Missense_Mutation_p.D615H|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	622	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTGATGCATCCAAAGCCTTC	0.378000													17	86					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983903	97983903	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr3:97983903G>A	ENST00000383696.2	+	1	816	c.775G>A	c.(775-777)Gct>Act	p.A259T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CACCTGTGGGGCTCATCTCTT	0.403000													10	53					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122647906	122647906	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr3:122647906C>T	ENST00000195173.4	-	6	778		c.e6-1		SEMA5B_ENST00000451055.2_Splice_Site|SEMA5B_ENST00000357599.3_Splice_Site			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACTCTGTGGCCTGGGGGAGGA	0.617000													13	47					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	454929	454929	+	Silent	SNP	G	G	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr10:454929G>C	ENST00000280886.6	-	9	1173	c.1086C>G	c.(1084-1086)gtC>gtG	p.V362V	DIP2C_ENST00000381496.3_Silent_p.V255V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	362						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCTGTAAGCGACCTTCATAC	0.443000													5	63					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76475713	76475713	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:76475713C>T	ENST00000389840.5	-	50	7836	c.7712G>A	c.(7711-7713)cGc>cAc	p.R2571H	DNAH17_ENST00000585328.1_Splice_Site_p.R2580H|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGAAATGGCGCTACCCCAA	0.622000													16	116					0	0	1	0	0
NIP7	51388	broad.mit.edu	37	16	69375534	69375534	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr16:69375534G>A	ENST00000254940.5	+	5	922	c.522G>A	c.(520-522)cgG>cgA	p.R174R	NIP7_ENST00000254941.6_Silent_p.R127R|RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	174					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				AATATGTGCGGCATGAAGAGA	0.483000													4	218					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933316	39933316	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:39933316T>C	ENST00000342274.4	-	4	1645	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	BCOR_ENST00000378444.4_Missense_Mutation_p.E428G|BCOR_ENST00000378455.4_Missense_Mutation_p.E428G|BCOR_ENST00000397354.3_Missense_Mutation_p.E428G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	428					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCTGCTTCTCCAACAGAGG	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	38					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662025	24662025	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr14:24662025C>T	ENST00000556387.1	-	7	1456	c.1423G>A	c.(1423-1425)Gct>Act	p.A475T	TM9SF1_ENST00000261789.4_Missense_Mutation_p.A266T|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A179T|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A266T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A475T|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A266T			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	266					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TTGTACCGAGCCAGGTCATTC	0.473000													22	83					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77413235	77413235	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr11:77413235C>T	ENST00000308488.6	-	6	1341	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	RSF1_ENST00000360355.2_Missense_Mutation_p.E316K|RSF1_ENST00000480887.1_Missense_Mutation_p.E95K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	347	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTTCAGGCTCCTGTGCCACT	0.398000													23	107					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262726	76262726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:76262726C>A	ENST00000263187.3	+	1	160	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	19				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTTTCCCCGTCGTCGGGAGAA	0.612000								Mismatch excision repair (MMR)					13	53					5.50884e-06	6.2811e-06	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5772910	5772910	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:5772910C>T	ENST00000381624.3	+	20	1936	c.1875C>T	c.(1873-1875)acC>acT	p.T625T	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	625						integral to membrane											CCATGTGTACCTCCCAGCCGC	0.542000													8	66					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184663589	184663589	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:184663589C>T	ENST00000318130.8	-	20	2673	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	EDEM3_ENST00000367512.3_Missense_Mutation_p.E776K	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	803					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTGTTCTTCATTTTCCATT	0.353000													3	17					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102572	10102572	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chrX:10102572G>A	ENST00000380861.4	+	19	3090	c.2699G>A	c.(2698-2700)cGg>cAg	p.R900Q	WWC3_ENST00000454666.1_Missense_Mutation_p.R900Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	900										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTTTTGTTCGGAGTGGCACG	0.552000													36	194					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67477105	67477105	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr15:67477105C>A	ENST00000327367.4	+	7	1222	c.912C>A	c.(910-912)ttC>ttA	p.F304L	SMAD3_ENST00000537194.2_Missense_Mutation_p.F109L|SMAD3_ENST00000540846.2_Missense_Mutation_p.F199L|SMAD3_ENST00000439724.3_Missense_Mutation_p.F260L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	304	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGGAGGTCTTCGCAGAGTGCC	0.577000													13	41					0.0135373	0.0139962	1	1	0
WSB1	26118	broad.mit.edu	37	17	25621449	25621449	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:25621449G>A	ENST00000262394.2	+	1	344	c.28G>A	c.(28-30)Gag>Aag	p.E10K	WSB1_ENST00000348811.2_Missense_Mutation_p.E10K|WSB1_ENST00000583193.1_Missense_Mutation_p.E10K|WSB1_ENST00000579733.1_Missense_Mutation_p.E10K|WSB1_ENST00000581185.1_Missense_Mutation_p.E10K|WSB1_ENST00000427287.2_Missense_Mutation_p.E10K|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	10					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAGGGTCAACGAGAAAGAGAT	0.617000													16	110					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412757	67412757	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr11:67412757C>T	ENST00000255082.3	-	5	697		c.e5+1		ACY3_ENST00000529256.1_Splice_Site	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3						interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCGGCCCACCCAGTCCATT	0.642000													9	31					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78367148	78367148	+	Silent	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr17:78367148G>A	ENST00000582970.1	+	68	15617	c.15474G>A	c.(15472-15474)ctG>ctA	p.L5158L	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L3231L|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.L5207L|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTTCAGCCTGAGAGACACTC	0.468000													6	30					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113600769	113600769	+	Silent	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr12:113600769C>T	ENST00000314045.7	-	17	2190	c.2163G>A	c.(2161-2163)caG>caA	p.Q721Q	DDX54_ENST00000306014.5_Silent_p.Q721Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	721					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGTCAGGTTCTGGGCTTCAT	0.652000													23	55					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	618597	618597	+	Splice_Site	SNP	C	C	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:618597C>A	ENST00000262109.7	-	5	1336		c.e5+1		ERICH1_ENST00000522706.1_Splice_Site	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ACGGTACTTACCAGGAGGCAT	0.458000													19	64					2.37509e-13	2.81322e-13	1	1	0
KCNA7	3743	broad.mit.edu	37	19	49573868	49573868	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:49573868C>T	ENST00000221444.1	-	2	1178	c.823G>A	c.(823-825)Gcc>Acc	p.A275T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	275						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CTCAGGATGGCCAGTGACATG	0.602000													13	63					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824669	34824669	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr6:34824669G>A	ENST00000192788.5	+	11	1565	c.1394G>A	c.(1393-1395)tGc>tAc	p.C465Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.C465Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	465										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CGCTCTAGCTGCATGGTGGTA	0.547000													11	48					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224495876	224495876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr1:224495876delT	ENST00000281701.6	-	6	691	c.432delA	c.(430-432)agafs	p.R144fs	NVL_ENST00000340871.4_Intron|NVL_ENST00000391875.2_Frame_Shift_Del_p.R38fs|NVL_ENST00000361463.3_Frame_Shift_Del_p.R38fs|NVL_ENST00000469075.1_Intron|NVL_ENST00000482491.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	144						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AGGTGGTTTCTCTTTGCTCCA	0.433													15	98	---	---	---	---					
GOLGB1	2804	broad.mit.edu	37	3	121415272	121415287	+	Frame_Shift_Del	DEL	ATGGGATACTGTCTTT	ATGGGATACTGTCTTT	-	rs147482666		TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr3:121415272_121415287delATGGGATACTGTCTTT	ENST00000393667.3	-	13	4193_4208	c.4083_4098delAAAGACAGTATCCCAT	c.(4081-4098)ctaaagacagtatcccatfs	p.LKTVSH1361fs	GOLGB1_ENST00000340645.5_Frame_Shift_Del_p.LKTVSH1356fs	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1356					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTCAGCTTCATGGGATACTGTCTTTAGACTCTCGA	0.394													21	255	---	---	---	---					
ST18	9705	broad.mit.edu	37	8	53085004	53085005	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr8:53085004_53085005insT	ENST00000276480.7	-	10	1099_1100	c.416_417insA	c.(415-417)aatfs	p.N139fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	139						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAACAGATACATTTTTTTCAAA	0.386													24	73	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	5	---	---	---	---					
ABCA7	10347	broad.mit.edu	37	19	1055207	1055207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr19:1055207delC	ENST00000263094.6	+	30	4293	c.4062delC	c.(4060-4062)cgcfs	p.R1354fs	ABCA7_ENST00000433129.1_Frame_Shift_Del_p.R1354fs|ABCA7_ENST00000435683.2_Frame_Shift_Del_p.R1216fs	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1354					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCGGCGCCTGCTGCCCG	0.677													9	19	---	---	---	---					
TIAM1	7074	broad.mit.edu	37	21	32638382	32638384	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-PQ-A6FN-01A-11D-A31L-08	TCGA-PQ-A6FN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a8c610-851a-4f4d-bc87-cc35ce694293	1a5341cb-1e1d-49c8-875d-d853be51a6c2	g.chr21:32638382_32638384delTGG	ENST00000286827.3	-	5	1376_1378	c.905_907delCCA	c.(904-909)accaac>aac	p.T302del	TIAM1_ENST00000541036.1_In_Frame_Del_p.T302del|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	302					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTTGTGGGTTGGTGGCACCTTC	0.429													14	71	---	---	---	---