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
FAM83E	54854	broad.mit.edu	37	19	49104463	49104463	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:49104463C>G	ENST00000263266.3	-	5	1529	c.1340G>C	c.(1339-1341)aGg>aCg	p.R447T		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	447										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACCGAACCGCCTTCGGGCTGG	0.701000													11	30					0	0	0.000673444	0	0
EP300	2033	broad.mit.edu	37	22	41564727	41564727	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr22:41564727T>G	ENST00000263253.7	+	25	5247	c.4028T>G	c.(4027-4029)tTt>tGt	p.F1343C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1343					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATAGGTTTGTGGACAGT	0.443000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				17	46					0	0	0.00400662	0	0
TRIM37	4591	broad.mit.edu	37	17	57119177	57119177	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:57119177C>A	ENST00000376149.3	-	17	2193	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	TRIM37_ENST00000393065.2_Missense_Mutation_p.A550S|TRIM37_ENST00000393066.3_Missense_Mutation_p.A584S|TRIM37_ENST00000262294.7_Missense_Mutation_p.A584S			O94972	TRI37_HUMAN	tripartite motif containing 37	584						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATTACCTGCGGGTCCTGCA	0.423000									Mulibrey Nanism				7	19					0.00307968	0.00805455	0.00307968	1	0
CMTM1	113540	broad.mit.edu	37	16	66603924	66603924	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:66603924T>C	ENST00000379500.2	+	2	585	c.518T>C	c.(517-519)aTt>aCt	p.I173T	CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.I173T|CMTM1_ENST00000457188.2_Missense_Mutation_p.I56T|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000528324.1_Missense_Mutation_p.I56T|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	56					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAATCTGCATTGTCGTTTTT	0.343000													49	103					0	0	0.00361006	0	0
MOB3B	79817	broad.mit.edu	37	9	27455464	27455464	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:27455464C>T	ENST00000262244.5	-	2	509	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	29							metal ion binding|protein binding	p.E29Q(1)									TTGTGCAGCTCAAACCTCTGT	0.552000													42	159					0	0	0.00148497	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043328	184043328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184043328G>T	ENST00000342981.4	+	19	3439	c.3025G>T	c.(3025-3027)Gag>Tag	p.E1009*	EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E921*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E844*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E922*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E969*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E813*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.E1008*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E968*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E1008*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E845*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E812*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E1015*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E1015*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1008	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCATAAGGAGGCTGAGAT	0.587000													48	122					5.48756e-27	1.62241e-26	0.00285205	1	0
ASCC3	10973	broad.mit.edu	37	6	101054640	101054640	+	Missense_Mutation	SNP	G	G	A	rs112466876		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:101054640G>A	ENST00000369162.2	-	32	5364	c.5020C>T	c.(5020-5022)Cgt>Tgt	p.R1674C		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1674	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCACATAACGTCTTGTTTTT	0.308000													23	63					0	0	0.00278032	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4657916	4657916	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:4657916C>G	ENST00000228843.9	+	7	571	c.521C>G	c.(520-522)tCt>tGt	p.S174C	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S39C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S157C|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.S157C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S174C	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	174					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAGCAGCATCTAAAGCTGCA	0.413000													22	68					0	0	0.000878237	0	0
SPP1	6696	broad.mit.edu	37	4	88903947	88903947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:88903947G>T	ENST00000237623.7	+	6	950	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	SPP1_ENST00000360804.4_Nonsense_Mutation_p.E255*|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Nonsense_Mutation_p.E282*	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	282					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCACAGCCATGAAGATATGCT	0.398000													11	108					0.00185496	0.00491443	0.00185496	1	0
PRG4	10216	broad.mit.edu	37	1	186275989	186275989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:186275989G>T	ENST00000445192.2	+	7	1183	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.E287*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.E339*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.E339*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.E337*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	380	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCCCAAGGAGCCTGCACC	0.642000													22	101					1.10513e-12	3.13121e-12	0.00229938	1	0
SURF4	6836	broad.mit.edu	37	9	136234196	136234196	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:136234196G>A	ENST00000371989.3	-	2	303	c.174C>T	c.(172-174)acC>acT	p.T58T	SURF4_ENST00000485435.2_Silent_p.T58T|SURF4_ENST00000371991.3_Silent_p.T58T|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.T58T	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	58						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCAGTTCCAGGTGGTGTCGA	0.617000													25	64					0	0	0.00395357	0	0
PDE1A	5136	broad.mit.edu	37	2	183033014	183033014	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:183033014G>C	ENST00000351439.5	-	14	1911	c.1520C>G	c.(1519-1521)gCa>gGa	p.A507G	PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000410103.1_Missense_Mutation_p.A523G|PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000409365.1_Intron|PDE1A_ENST00000358139.2_Missense_Mutation_p.A523G|PDE1A_ENST00000536095.1_Intron	NM_001258313.1	NP_001245242.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	523	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTGGTTCTTGCTTCTGAAAA	0.318000													10	35					0	0	0.000673444	0	0
C7orf60	154743	broad.mit.edu	37	7	112472713	112472713	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:112472713C>T	ENST00000297145.4	-	4	656	c.491G>A	c.(490-492)gGa>gAa	p.G164E	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	164										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTGATTTTTCCTGAGGCTTG	0.323000													6	60					0	0	0.00198382	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:18159571C>T	ENST00000396275.2	+	3	1183	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512000													30	89					0	0	0.00283554	0	0
KLHL17	339451	broad.mit.edu	37	1	896822	896822	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:896822G>A	ENST00000338591.3	+	2	364	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	86					actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCATGCGCCAGCGCGGC	0.672000													5	28					0	0	0.00198382	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622649	108622649	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:108622649G>A	ENST00000264047.2	+	7	1162	c.886G>A	c.(886-888)Gca>Aca	p.A296T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A191T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A296T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	296					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCCATTGGAGCATCAACAGG	0.542000													23	70					0	0	0.00278032	0	0
SEC24A	10802	broad.mit.edu	37	5	134033594	134033594	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:134033594A>G	ENST00000398844.2	+	15	2401	c.2113A>G	c.(2113-2115)Att>Gtt	p.I705V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	705					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGTTGTATTTCTCGGTA	0.373000													47	50					0	0	0.00361006	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607895	79607895	+	Silent	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:79607895A>G	ENST00000369940.2	+	4	732	c.627A>G	c.(625-627)aaA>aaG	p.K209K	IRAK1BP1_ENST00000607739.1_Silent_p.K122K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	209					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGAAACAAAAGAATGGGAAG	0.388000													10	18					0	0	0.000673444	0	0
MKRN3	7681	broad.mit.edu	37	15	23811447	23811447	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:23811447C>T	ENST00000314520.3	+	1	994	c.518C>T	c.(517-519)tCg>tTg	p.S173L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	173						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGATTGGCTCGGCTGCTGAA	0.612000													26	29					0	0	0.00395357	0	0
KIF20B	9585	broad.mit.edu	37	10	91532579	91532579	+	Silent	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:91532579A>G	ENST00000416354.1	+	32	5538	c.5466A>G	c.(5464-5466)tcA>tcG	p.S1822S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.S1752S|KIF20B_ENST00000371728.3_Silent_p.S1792S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1792					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGATATATCAGGCCAAGTGG	0.328000													3	88					0	0	6.4e-05	0	0
HSPA5	3309	broad.mit.edu	37	9	128003180	128003180	+	Silent	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:128003180G>C	ENST00000324460.6	-	2	332	c.129C>G	c.(127-129)ggC>ggG	p.G43G		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	43					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTTGAACACGCCGACGCTGG	0.632000										Prostate(1;0.17)			9	114					0	0	0.000274275	0	0
FRYL	285527	broad.mit.edu	37	4	48622739	48622739	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:48622739G>A	ENST00000537810.1	-	6	835	c.231C>T	c.(229-231)acC>acT	p.T77T	FRYL_ENST00000507711.1_Silent_p.T77T|FRYL_ENST00000358350.4_Silent_p.T77T|FRYL_ENST00000503238.1_Silent_p.T77T|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTCAAACAAGGTGCGAAGTA	0.398000													26	48					0	0	0.00332997	0	0
U2AF1	7307	broad.mit.edu	37	21	44524445	44524445	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr21:44524445T>G	ENST00000291552.4	-	2	204	c.112A>C	c.(112-114)Aat>Cat	p.N38H	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.N38H|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	38					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCGGTTTATTGTGCAACCGA	0.343000			Mis		"""CLL, MDS"""								6	16					0	0	0.00116845	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207565	105207565	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105207565C>T	ENST00000332972.5	+	8	1066	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	ADSSL1_ENST00000330877.2_Missense_Mutation_p.L260F	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	260					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CGCCGCCCTCCTCGACATTGA	0.617000													20	33					0	0	0.000958276	0	0
SDF4	51150	broad.mit.edu	37	1	1153119	1153119	+	Silent	SNP	C	C	T	rs144630443		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1153119C>T	ENST00000263741.7	-	7	1270	c.978G>A	c.(976-978)gcG>gcA	p.A326A	SDF4_ENST00000360001.6_Intron	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	0	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCCGAGCTCCGCGGCCAGCC	0.627000													23	40					0	0	0.00278032	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950235	201950235	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:201950235A>C	ENST00000237889.4	+	3	517	c.194A>C	c.(193-195)gAt>gCt	p.D65A	NDUFB3_ENST00000454214.1_Missense_Mutation_p.D65A|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D65A	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	65					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	TCCTTTTCTGATGTATTCTTT	0.363000													3	68					0	0	0.00024832	0	0
IPO7	10527	broad.mit.edu	37	11	9435863	9435863	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:9435863C>T	ENST00000379719.3	+	5	683	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	181					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGCCAGTTCTAAAGGATCG	0.388000													20	60					0	0	0.000958276	0	0
HELQ	113510	broad.mit.edu	37	4	84352817	84352817	+	Splice_Site	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:84352817C>T	ENST00000295488.3	-	11	2457	c.2295_splice	c.e11+1	p.K765_splice	HELQ_ENST00000510985.1_Splice_Site_p.K698_splice	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	765							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAAAATACCTTCAAACCAA	0.289000								Other identified genes with known or suspected DNA repair function					12	29					0	0	0.00136819	0	0
ENTHD2	146705	broad.mit.edu	37	17	79204412	79204412	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:79204412G>A	ENST00000374769.2	-	12	1186	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.R321C					ENTH domain containing 2																		GGCCGGGTGCGGAGGAGGATG	0.697000											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0.00024832	0	0
NDUFB6	4712	broad.mit.edu	37	9	32558937	32558937	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:32558937T>C	ENST00000379847.3	-	3	390	c.289A>G	c.(289-291)Ata>Gta	p.I97V	TOPORS-AS1_ENST00000425533.1_RNA|TOPORS-AS1_ENST00000458036.1_RNA|NDUFB6_ENST00000350021.2_Intron	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	97					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TTTTCAACTATGCCATATGGT	0.313000													32	115					0	0	0.00283554	0	0
KIF26B	55083	broad.mit.edu	37	1	245775205	245775205	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:245775205C>T	ENST00000366518.4	+	6	986	c.882C>T	c.(880-882)gaC>gaT	p.D294D	KIF26B_ENST00000407071.2_Silent_p.D675D			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	675					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGAGGACGACCACCGCAACT	0.612000													6	45					0	0	0.00116845	0	0
LAMB1	3912	broad.mit.edu	37	7	107613482	107613482	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:107613482C>A	ENST00000393561.1	-	11	1773	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	LAMB1_ENST00000393560.1_Missense_Mutation_p.G506V|LAMB1_ENST00000222399.6_Missense_Mutation_p.G506V			P07942	LAMB1_HUMAN	laminin, beta 1	506	Laminin EGF-like 5; truncated.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTCGACATCCATCCAAATC	0.458000													32	56					2.42023e-17	6.95391e-17	0.00327116	1	0
HECW2	57520	broad.mit.edu	37	2	197189757	197189757	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:197189757C>T	ENST00000260983.2	-	6	870	c.688G>A	c.(688-690)Gag>Aag	p.E230K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	230	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GACCGTCTCTCCTGCCCGTGG	0.498000													62	184					0	0	0.00361006	0	0
CNGB1	1258	broad.mit.edu	37	16	58001090	58001090	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:58001090T>C	ENST00000564448.1	-	2	161	c.101A>G	c.(100-102)gAg>gGg	p.E34G	CNGB1_ENST00000251102.8_Missense_Mutation_p.E34G|CNGB1_ENST00000311183.4_Missense_Mutation_p.E34G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	34	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CACCTCCGCCTCCATCTCTGG	0.642000													3	81					0	0	6.4e-05	0	0
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:40093386G>A	ENST00000299092.3	-	4	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512000													42	81					0	0	0.00361006	0	0
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Splice_Site	SNP	A	A	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:31504459A>C	ENST00000417556.2	-	6	1109	c.477_splice	c.e6-1	p.V160_splice	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Splice_Site_p.V145_splice|DDX39B_ENST00000415382.2_Splice_Site_p.V67_splice|DDX39B_ENST00000453105.2_Splice_Site_p.V98_splice|DDX39B_ENST00000396172.1_Splice_Site_p.V145_splice|DDX39B_ENST00000458640.1_Splice_Site_p.V145_splice|DDX39B_ENST00000449074.2_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	145	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498000													8	50					0	0	0.00244969	0	0
BBS9	27241	broad.mit.edu	37	7	33573768	33573768	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:33573768C>T	ENST00000242067.6	+	21	3022	c.2501C>T	c.(2500-2502)cCa>cTa	p.P834L	BBS9_ENST00000396127.2_Missense_Mutation_p.P799L|BBS9_ENST00000350941.3_Missense_Mutation_p.P794L|BBS9_ENST00000354265.4_Missense_Mutation_p.P799L|BBS9_ENST00000355070.2_Missense_Mutation_p.P829L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	834					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCAGCAGCCCCACAGACCATG	0.478000									Bardet-Biedl syndrome				11	40					0	0	0.000673444	0	0
IKZF1	10320	broad.mit.edu	37	7	50467751	50467751	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50467751C>T	ENST00000331340.3	+	8	1141	c.986C>T	c.(985-987)cCg>cTg	p.P329L	IKZF1_ENST00000346667.4_Missense_Mutation_p.P99L|IKZF1_ENST00000439701.1_Missense_Mutation_p.P287L|IKZF1_ENST00000438033.1_Missense_Mutation_p.P242L|IKZF1_ENST00000343574.5_Missense_Mutation_p.P242L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.P287L|IKZF1_ENST00000357364.4_Missense_Mutation_p.P242L|IKZF1_ENST00000349824.4_Missense_Mutation_p.P186L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	329					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCCCTGCGCCCGCTGGTGCAG	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								10	11					0	0	0.000978159	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735369	55735369	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:55735369G>A	ENST00000312345.2	-	1	621	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCTACTACATGGACTGTTATC	0.398000													9	36					0	0	0.000442599	0	0
PRRC2B	84726	broad.mit.edu	37	9	134308054	134308054	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:134308054C>T	ENST00000357304.4	+	2	221	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R56C|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R56C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	56							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGCAGCCCGGCGCATGCCACC	0.527000													34	33					0	0	0.00327116	0	0
SCAND3	114821	broad.mit.edu	37	6	28541559	28541559	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:28541559C>G	ENST00000452236.2	-	4	2724	c.2107G>C	c.(2107-2109)Gcc>Ccc	p.A703P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	703					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcagaaaaggcatgtcttttc	0.328000													2	9					0	0	6.4e-05	0	0
PTPRC	5788	broad.mit.edu	37	1	198719738	198719738	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:198719738C>T	ENST00000367376.2	+	29	3355	c.3184C>T	c.(3184-3186)Ctg>Ttg	p.L1062L	PTPRC_ENST00000352140.3_Silent_p.L1014L|PTPRC_ENST00000594404.1_Silent_p.L901L|PTPRC_ENST00000442510.2_Silent_p.L1064L|PTPRC_ENST00000348564.6_Silent_p.L903L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1062	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGACAGAACTGAAACATGG	0.408000													16	78					0	0	0.00400662	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612722	16612722	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:16612722A>T	ENST00000443444.2	+	5	1491	c.1351A>T	c.(1351-1353)Aca>Tca	p.T451S	CCDC144A_ENST00000340621.5_Missense_Mutation_p.T450S|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.T451S|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.T451S|CCDC144A_ENST00000399273.1_Missense_Mutation_p.T451S			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	451																	TTTGCAAATGACAAAAAATAT	0.343000													24	26					0	0	0.00229938	0	0
PCDH15	65217	broad.mit.edu	37	10	55955493	55955493	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:55955493T>G	ENST00000373965.2	-	11	1649	c.1255A>C	c.(1255-1257)Aat>Cat	p.N419H	PCDH15_ENST00000409834.1_Missense_Mutation_p.N23H|PCDH15_ENST00000373957.3_Missense_Mutation_p.N397H|PCDH15_ENST00000395445.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395430.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395438.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395433.1_Missense_Mutation_p.N397H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.N382H|PCDH15_ENST00000361849.3_Missense_Mutation_p.N419H|PCDH15_ENST00000320301.6_Missense_Mutation_p.N419H|PCDH15_ENST00000395446.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395440.1_Missense_Mutation_p.N419H|PCDH15_ENST00000373955.1_Missense_Mutation_p.N419H|PCDH15_ENST00000437009.1_Missense_Mutation_p.N419H|PCDH15_ENST00000414778.1_Missense_Mutation_p.N424H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	419	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGTCAAATTGAGACTGTCC	0.368000										HNSCC(58;0.16)			14	43					0	0	0.00074312	0	0
PDCD2L	84306	broad.mit.edu	37	19	34895682	34895682	+	Silent	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:34895682G>T	ENST00000246535.3	+	2	284	c.237G>T	c.(235-237)gcG>gcT	p.A79A	RP11-618P17.4_ENST00000606020.1_Silent_p.A74A	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	79						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACGTGTTCGCGTGCGCCTGCC	0.716000													5	11					0.00116845	0.00311585	0.00116845	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884679	228884679	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:228884679C>T	ENST00000392056.3	-	7	937	c.891G>A	c.(889-891)caG>caA	p.Q297Q	SPHKAP_ENST00000344657.5_Silent_p.Q297Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	297						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATCTAGACTCTGCAAGGCTG	0.418000													60	162					0	0	0.00361006	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045674	26045674	+	Silent	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:26045674C>G	ENST00000540144.1	+	1	36	c.36C>G	c.(34-36)acC>acG	p.T12T		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	12					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCAAGTCTACCGGCGGCAAAG	0.547000													16	65					0	0	0.00400662	0	0
EEF2K	29904	broad.mit.edu	37	16	22260121	22260121	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:22260121C>G	ENST00000263026.5	+	4	867	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	131	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.I131M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGTTCTGATCAAGATGGCAT	0.567000													8	35					0	0	0.00307968	0	0
SFSWAP	6433	broad.mit.edu	37	12	132239043	132239043	+	Splice_Site	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:132239043A>G	ENST00000261674.4	+	9	1594	c.1454_splice	c.e9+1	p.R485_splice	SFSWAP_ENST00000541286.1_Splice_Site_p.R485_splice	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	485					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GAATGATCAAAGGTCAGAAGA	0.433000													23	30					0	0	0.000878237	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717102	195717102	+	RNA	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:195717102A>G	ENST00000427841.1	-	0	48					NR_003264.2																						GCGCTTGGCAACCGCGACAGG	0.776000													3	7					0	0	0.00024832	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817516	67817516	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:67817516G>A	ENST00000265686.3	+	17	2209	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N	TCIRG1_ENST00000532635.1_Missense_Mutation_p.D485N	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	701					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGGCCTGGATGATGAAGAGGA	0.672000													10	27					0	0	0.000673444	0	0
PSMC4	5704	broad.mit.edu	37	19	40478119	40478119	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:40478119G>C	ENST00000157812.2	+	2	301	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	PSMC4_ENST00000455878.2_Missense_Mutation_p.E35Q	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCTGAGCCTGAGGACCTGGA	0.582000													24	82					0	0	0.000720815	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													8	28					0	0	0.000274275	0	0
NBEAL1	65065	broad.mit.edu	37	2	204078305	204078305	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:204078305G>C	ENST00000449802.1	+	54	8245	c.7912G>C	c.(7912-7914)Gaa>Caa	p.E2638Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2638							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCACCAAAGAATACAGCCA	0.383000													35	93					0	0	0.00283554	0	0
MELK	9833	broad.mit.edu	37	9	36599430	36599430	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:36599430C>T	ENST00000543751.1	+	6	563	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	MELK_ENST00000536987.1_Silent_p.L41L|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536329.1_Silent_p.L101L|MELK_ENST00000545008.1_Silent_p.L101L|MELK_ENST00000541717.1_Silent_p.L172L|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000298048.2_Silent_p.L172L|MELK_ENST00000536860.1_Silent_p.L124L	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	172	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTGTGGGAGTCTGGCTTATGC	0.328000													14	32					0	0	0.00185496	0	0
CS	1431	broad.mit.edu	37	12	56669923	56669923	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:56669923C>G	ENST00000548567.1	-	8	917	c.447G>C	c.(445-447)aaG>aaC	p.K149N	CS_ENST00000542324.2_Missense_Mutation_p.K202N|CS_ENST00000351328.3_Missense_Mutation_p.K215N			O75390	CISY_HUMAN	citrate synthase	215					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TTCGGTAGATCTTTGCTGCAA	0.418000													21	30					0	0	0.00229938	0	0
PLCL2	23228	broad.mit.edu	37	3	17084400	17084400	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:17084400C>T	ENST00000418129.2	+	4	3140	c.2675C>T	c.(2674-2676)gCa>gTa	p.A892V	PLCL2_ENST00000396755.2_Missense_Mutation_p.A892V|PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000432376.1_Missense_Mutation_p.A892V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1018					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATTGAAAATGCAGATGCTGTA	0.403000													30	41					0	0	0.00178596	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359010	103359010	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:103359010G>C	ENST00000537356.2	+	1	208	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	70							nucleic acid binding|zinc ion binding										CCAAGTCAATGAGGTCCTGCC	0.502000													7	8					0	0	0.00198382	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406529	105406529	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105406529G>A	ENST00000333244.5	-	7	15378	c.15259C>T	c.(15259-15261)Ctc>Ttc	p.L5087F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L85F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5087						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGTGGAGGTTCACACCC	0.572000													42	95					0	0	0.00170553	0	0
SZT2	23334	broad.mit.edu	37	1	43909378	43909378	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:43909378G>A	ENST00000562955.1	+	61	8565	c.8565G>A	c.(8563-8565)ctG>ctA	p.L2855L	SZT2_ENST00000372442.1_Silent_p.L2013L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2912						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGAAGGAGCTGAGCTTGGCTT	0.632000													45	153					0	0	0.00321405	0	0
CCDC15	80071	broad.mit.edu	37	11	124908467	124908467	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:124908467G>C	ENST00000529051.1	+	14	2811	c.2552G>C	c.(2551-2553)aGa>aCa	p.R851T	CCDC15_ENST00000344762.5_Missense_Mutation_p.R851T|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	851						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAAGGAACCAGAGAAAAACAA	0.358000													5	1					0	0	0.000602214	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239445	2239445	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:2239445G>T	ENST00000343516.6	-	4	457	c.365C>A	c.(364-366)gCg>gAg	p.A122E		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	122					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATGCTGGGCCGCCAGGTGCAG	0.716000													5	26					0.000602214	0.00161647	0.000602214	1	0
PHRF1	57661	broad.mit.edu	37	11	605263	605263	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:605263C>G	ENST00000264555.5	+	11	1425	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	PHRF1_ENST00000416188.2_Missense_Mutation_p.L433V|PHRF1_ENST00000533464.1_Missense_Mutation_p.L429V|PHRF1_ENST00000413872.2_Missense_Mutation_p.L432V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	433							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCTCTGTCTCTGTTTGGAGA	0.607000													38	97					0	0	0.00195071	0	0
DDC	1644	broad.mit.edu	37	7	50534959	50534959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50534959C>A	ENST00000444124.2	-	13	1395	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	DDC_ENST00000426377.1_Nonsense_Mutation_p.E321*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E399*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E306*	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	399					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACAGATTTCAAAGCGGGGA	0.448000													42	126					6.5261e-18	1.90189e-17	0.00195071	1	0
CCNB1	891	broad.mit.edu	37	5	68471233	68471233	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:68471233G>A	ENST00000256442.5	+	7	1205	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGTTGATGTCGAGCAACATAC	0.393000													23	79					0	0	0.000720815	0	0
CAP1	10487	broad.mit.edu	37	1	40525772	40525772	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:40525772C>T	ENST00000372797.3	+	3	707	c.146C>T	c.(145-147)tCg>tTg	p.S49L	CAP1_ENST00000372805.3_Missense_Mutation_p.S49L|CAP1_ENST00000340450.3_Missense_Mutation_p.S48L|CAP1_ENST00000372792.2_Missense_Mutation_p.S49L|CAP1_ENST00000372802.1_Missense_Mutation_p.S48L|CAP1_ENST00000372798.1_Missense_Mutation_p.S48L	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	49					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATTTGACTCGCTGCTTGCT	0.463000													21	49					0	0	0.00332997	0	0
ZNF132	7691	broad.mit.edu	37	19	58944808	58944808	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:58944808G>C	ENST00000254166.3	-	3	2403	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AACAAGTGTAGATCTTTCACT	0.468000													7	64					0	0	0.00198382	0	0
TBX21	30009	broad.mit.edu	37	17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617000													9	42					0	0	0.000442599	0	0
PUS1	80324	broad.mit.edu	37	12	132414283	132414283	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:132414283C>T	ENST00000376649.3	+	1	516	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PUS1_ENST00000542167.2_Intron|PUS1_ENST00000443358.2_Intron|PUS1_ENST00000440818.2_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	6						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCTCCAGCTTCGCGCGCTGTT	0.726000													13	15					0	0	0.00400662	0	0
PGD	5226	broad.mit.edu	37	1	10473290	10473290	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10473290G>A	ENST00000538557.1	+	8	1031	c.787G>A	c.(787-789)Gta>Ata	p.V263I	PGD_ENST00000270776.8_Missense_Mutation_p.V276I|PGD_ENST00000541529.1_Missense_Mutation_p.V254I			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	276					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GGAATACGGCGTACCCGTCAC	0.542000													17	33					0	0	0.000566183	0	0
BRSK2	9024	broad.mit.edu	37	11	1475777	1475777	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:1475777T>C	ENST00000308219.9	+	16	1993	c.1607T>C	c.(1606-1608)gTg>gCg	p.V536A	BRSK2_ENST00000382179.1_Missense_Mutation_p.V582A|BRSK2_ENST00000308230.5_Missense_Mutation_p.V558A|BRSK2_ENST00000544817.1_Missense_Mutation_p.V231A|BRSK2_ENST00000531197.1_Missense_Mutation_p.V536A|BRSK2_ENST00000528710.1_Missense_Mutation_p.V476A|BRSK2_ENST00000526678.1_Missense_Mutation_p.V558A|BRSK2_ENST00000528841.1_Missense_Mutation_p.V536A	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	536					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAGATCTTCGTGGTCATCAAA	0.602000													12	41					0	0	0.000978159	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871625	20871625	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:20871625G>A	ENST00000324344.3	-	3	783	c.498C>T	c.(496-498)ttC>ttT	p.F166F	DCUN1D3_ENST00000563934.1_Silent_p.F166F|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	166	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGAGGCTAGGGAACCGTGCAC	0.443000													31	67					0	0	0.00178596	0	0
TTN	7273	broad.mit.edu	37	2	179434249	179434249	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179434249C>T	ENST00000589042.1	-	326	76834	c.76610G>A	c.(76609-76611)cGt>cAt	p.R25537H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16664H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16472H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23896H|TTN_ENST00000359218.5_Missense_Mutation_p.R16597H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22969H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23896	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTAGGACGACCTTTTAT	0.393000													4	42					0	0	0.00116845	0	0
ERAP1	51752	broad.mit.edu	37	5	96121617	96121617	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:96121617G>A	ENST00000296754.3	-	13	2075	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G	ERAP1_ENST00000443439.2_Silent_p.G606G|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	606					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAATGTAATAGCCATTCATGC	0.428000													30	31					0	0	0.00327116	0	0
APBA1	320	broad.mit.edu	37	9	72131514	72131514	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:72131514G>A	ENST00000265381.4	-	2	835	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	205					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCAGCTCGGGCGCGTCCCCT	0.716000													7	28					0	0	0.00198382	0	0
HMHA1	23526	broad.mit.edu	37	19	1082981	1082981	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:1082981T>A	ENST00000313093.2	+	20	2891	c.2660T>A	c.(2659-2661)cTg>cAg	p.L887Q	HMHA1_ENST00000590577.1_Missense_Mutation_p.L522Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.L770Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.L891Q|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.L914Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.L903Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.L755Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	887	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCGGTGGCCCTGGCAGGTCGG	0.716000													5	8					0	0	0.000602214	0	0
LPAR1	1902	broad.mit.edu	37	9	113637831	113637831	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:113637831A>G	ENST00000374431.3	-	5	1348	c.965T>C	c.(964-966)tTt>tCt	p.F322S	LPAR1_ENST00000538760.1_Missense_Mutation_p.F323S|LPAR1_ENST00000358883.4_Missense_Mutation_p.F322S|LPAR1_ENST00000541779.1_Missense_Mutation_p.F323S|LPAR1_ENST00000374430.2_Missense_Mutation_p.F322S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	322					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATCTGCCTAAAGGTGGCGCT	0.552000													4	141					0	0	0.00024832	0	0
MTFR2	113115	broad.mit.edu	37	6	136562633	136562633	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:136562633G>C	ENST00000420702.1	-	5	852	c.463C>G	c.(463-465)Cag>Gag	p.Q155E	MTFR2_ENST00000451457.2_Missense_Mutation_p.Q155E	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		GCTGCAATCTGAGAGCGAAGA	0.353000													5	40					0	0	0.00198382	0	0
CXorf56	63932	broad.mit.edu	37	X	118673707	118673707	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:118673707C>G	ENST00000320339.4	-	7	776	c.505G>C	c.(505-507)Gac>Cac	p.D169H	CXorf56_ENST00000486230.1_Missense_Mutation_p.D218H|CXorf56_ENST00000476164.1_Missense_Mutation_p.D218H|CXorf56_ENST00000536133.1_Missense_Mutation_p.D204H|CXorf56_ENST00000371594.4_Missense_Mutation_p.D218H|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	218							protein binding			cervix(1)|endometrium(2)|lung(7)	10						AACTGGTTGTCAATCAAGGTC	0.373000													9	11					0	0	0.000442599	0	0
ODF2	4957	broad.mit.edu	37	9	131221882	131221882	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:131221882C>T	ENST00000434106.2	+	3	432	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ODF2_ENST00000372791.3_Silent_p.L23L|ODF2_ENST00000372796.4_Silent_p.L23L|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000393533.2_Silent_p.L23L|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000372814.3_Silent_p.L67L|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000546203.1_Silent_p.L23L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	23					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TAACGAGTCTCACGCAGAAAA	0.493000													9	22					0	0	0.000442599	0	0
WISP1	8840	broad.mit.edu	37	8	134233036	134233036	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:134233036G>A	ENST00000250160.6	+	3	668	c.562G>A	c.(562-564)Gac>Aac	p.D188N	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	188					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTGAGGACGACGCCAAGAG	0.682000													18	86					0	0	0.000566183	0	0
ANO2	57101	broad.mit.edu	37	12	5744499	5744499	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:5744499G>A	ENST00000546188.1	-	17	1709	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Silent_p.F545F|ANO2_ENST00000356134.5_Silent_p.F546F			Q9NQ90	ANO2_HUMAN	anoctamin 2	550						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGACGATTGAGAATGTCAGGG	0.478000													10	16					0	0	0.000673444	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303242	7303242	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:7303242C>T	ENST00000537408.1	+	14	2922	c.2384C>T	c.(2383-2385)tCg>tTg	p.S795L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.S783L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	783					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTTTCCTGCTCGGAAATGAAT	0.547000													44	105					0	0	0.00361006	0	0
DOPEY1	23033	broad.mit.edu	37	6	83838721	83838721	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:83838721G>T	ENST00000349129.2	+	16	2095	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R603L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R593L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	612					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAGCAGACCGAACTGATGAT	0.458000													39	110					5.44703e-19	1.59884e-18	0.00222228	1	0
DPYS	1807	broad.mit.edu	37	8	105463606	105463606	+	Missense_Mutation	SNP	C	C	T	rs148513732	by1000genomes	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:105463606C>T	ENST00000351513.2	-	2	423	c.291G>A	c.(289-291)atG>atA	p.M97I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	97					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATCAATAATCATGGTGGTGC	0.458000													43	47					0	0	0.0025221	0	0
TET1	80312	broad.mit.edu	37	10	70333694	70333694	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:70333694C>T	ENST00000373644.4	+	2	1808	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	533	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAGCCCAACTCTCTCAGGCTG	0.522000													11	74					0	0	0.000673444	0	0
ATM	472	broad.mit.edu	37	11	108236053	108236053	+	Splice_Site	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:108236053G>A	ENST00000278616.4	+	63	9374	c.8987_splice	c.e63-1	p.D2997_splice	ATM_ENST00000452508.2_Splice_Site_p.D2997_splice|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2997					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTCCTTAGTGATATTGACCA	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	33					0	0	0.00229938	0	0
DIP2B	57609	broad.mit.edu	37	12	51080375	51080375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:51080375G>A	ENST00000301180.5	+	12	1495	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	487						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCTCAAATGGGTTGTAACAG	0.448000													17	22					0	0	0.00074312	0	0
OR2H2	7932	broad.mit.edu	37	6	29555789	29555789	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:29555789G>A	ENST00000383640.2	+	1	107	c.68G>A	c.(67-69)aGg>aAg	p.R23K	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	23					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCTGGAAAGGACTCTCTTC	0.557000													52	150					0	0	0.00361006	0	0
MSLN	10232	broad.mit.edu	37	16	815234	815234	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:815234C>T	ENST00000566549.1	+	8	1052	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MSLN_ENST00000545450.2_Missense_Mutation_p.P212L|MSLN_ENST00000382862.3_Missense_Mutation_p.P212L|MSLN_ENST00000563941.1_Missense_Mutation_p.P212L			Q13421	MSLN_HUMAN	mesothelin	212					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGAGCTGCCCGGGACCCCTG	0.697000													4	10					0	0	0.00024832	0	0
UBE4B	10277	broad.mit.edu	37	1	10211518	10211518	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10211518A>T	ENST00000377157.3	+	20	3151	c.2090A>T	c.(2089-2091)aAc>aTc	p.N697I	UBE4B_ENST00000343090.6_Missense_Mutation_p.N942I|UBE4B_ENST00000253251.8_Missense_Mutation_p.N813I	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	942					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTTATGACCAACCCTGCTGTT	0.428000													15	100					0	0	0.00316338	0	0
TTN	7273	broad.mit.edu	37	2	179648932	179648932	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179648932C>T	ENST00000589042.1	-	16	2864	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	TTN_ENST00000342175.6_Silent_p.Q834Q|TTN_ENST00000360870.5_Silent_p.Q880Q|TTN_ENST00000460472.2_Silent_p.Q834Q|TTN_ENST00000591111.1_Silent_p.Q880Q|TTN_ENST00000359218.5_Silent_p.Q834Q|TTN_ENST00000342992.6_Silent_p.Q880Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	880							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAAGGGGAACTGTGGCAAGG	0.537000													17	65					0	0	0.00074312	0	0
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547000		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)			22	17					0	0	0.00152264	0	0
DIDO1	11083	broad.mit.edu	37	20	61542922	61542922	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61542922C>T	ENST00000266070.4	-	3	368	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A15T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A15T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A15T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A15T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A15T|DIDO1_ENST00000266071.5_Missense_Mutation_p.A15T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A15T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A15T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	15					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)					GGTTTGATGGCCTTAGGTGCC	0.542000													12	13					0	0	0.00185496	0	0
MAST3	23031	broad.mit.edu	37	19	18232573	18232573	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:18232573G>A	ENST00000262811.5	+	3	150	c.150G>A	c.(148-150)tcG>tcA	p.S50S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	50							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGCCATTGTCGGTCCCAACGG	0.687000													29	83					0	0	0.001512	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379880	67379880	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:67379880G>A	ENST00000322776.6	+	10	1499	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	NDUFV1_ENST00000532303.1_Missense_Mutation_p.R348Q|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R440Q|NDUFV1_ENST00000415352.2_Missense_Mutation_p.R442Q	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	449					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CTCGAGGAGCGGATGCAGCGG	0.632000													13	31					0	0	0.00185496	0	0
DIDO1	11083	broad.mit.edu	37	20	61512690	61512690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61512690G>A	ENST00000266070.4	-	16	4943	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1540*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1540					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)					TCTGCAGACTGCTGCTCTTGC	0.667000													45	54					0	0	0.00361006	0	0
ENPEP	2028	broad.mit.edu	37	4	111397718	111397718	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:111397718G>A	ENST00000265162.5	+	1	490	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	50					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGGGGACGGCGGGCCGGGCAC	0.642000													38	108					0	0	0.00111076	0	0
PSMD10	5716	broad.mit.edu	37	X	107331314	107331314	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:107331314G>A	ENST00000217958.3	-	3	326	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PSMD10_ENST00000361815.5_Missense_Mutation_p.L77F|PSMD10_ENST00000340200.5_Missense_Mutation_p.L44F|PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000372296.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	77	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCAATATGAAGAGGAGACCAA	0.453000													16	27					0	0	0.00074312	0	0
FERD3L	222894	broad.mit.edu	37	7	19184751	19184751	+	Missense_Mutation	SNP	C	C	T	rs72265969		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:19184751C>T	ENST00000275461.3	-	1	293	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	79	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cgctcctcttcctcctcctct	0.622000													11	19					0	0	0.000673444	0	0
NINL	22981	broad.mit.edu	37	20	25457633	25457633	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25457633G>A	ENST00000278886.6	-	17	2367	c.2294C>T	c.(2293-2295)cCg>cTg	p.P765L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	765					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGTCCCTGCGGCGGCTCCTC	0.692000													12	7					0	0	0.000978159	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045463	184045463	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184045463G>C	ENST00000342981.4	+	24	4168	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q	EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1164Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1087Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1165Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1212Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1056Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1251Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1211Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1251Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1088Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1055Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1258Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1258Q	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1251	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTATCATTGAGGAATATCT	0.557000													28	74					0	0	0.00106085	0	0
HRG	3273	broad.mit.edu	37	3	186392970	186392970	+	Silent	SNP	C	C	T	rs151028119		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:186392970C>T	ENST00000232003.4	+	6	812	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	244	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTGAAGTCTTCGACCCTCAGG	0.433000													28	243					0	0	0.00178596	0	0
ZNF136	7695	broad.mit.edu	37	19	12296615	12296615	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:12296615G>C	ENST00000343979.4	+	2	159	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GGTGGCTTTTGAGGATGTAGA	0.478000													13	59					0	0	0.00185496	0	0
SKP2	6502	broad.mit.edu	37	5	36152987	36152987	+	Silent	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:36152987G>C	ENST00000274255.6	+	2	319	c.123G>C	c.(121-123)ctG>ctC	p.L41L	SKP2_ENST00000274254.5_Silent_p.L41L|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000508514.1_Silent_p.L41L	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCGCCCTGGAGAAAGAGG	0.592000													14	43					0	0	0.00185496	0	0
NRROS	375387	broad.mit.edu	37	3	196381413	196381413	+	Translation_Start_Site	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:196381413G>A	ENST00000328557.4	+	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CCCTTGAGATGGAGTTGCTGC	0.567000													13	58					0	0	0.00244969	0	0
PIGW	284098	broad.mit.edu	37	17	34893502	34893502	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:34893502G>A	ENST00000592983.1	+	2	1132	c.552G>A	c.(550-552)gaG>gaA	p.E184E	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.E184E			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	184					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGTCTAGAGGTCAGGAGGA	0.418000													36	150					0	0	0.000953801	0	0
UACA	55075	broad.mit.edu	37	15	70960561	70960561	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:70960561A>G	ENST00000322954.6	-	16	2647	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	UACA_ENST00000539319.1_Missense_Mutation_p.V712A|UACA_ENST00000560441.1_Missense_Mutation_p.V806A|UACA_ENST00000379983.2_Missense_Mutation_p.V808A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	821						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTAAGTTCAACAATATTGGA	0.368000													3	83					0	0	6.4e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57548365	57548365	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:57548365C>T	ENST00000243077.3	+	8	1574	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	LRP1_ENST00000554174.1_Missense_Mutation_p.H370Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	370					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTTTCCTCATGGCATCAC	0.547000													9	10					0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8713951	8713951	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:8713951C>A	ENST00000378641.3	+	19	2430	c.1955C>A	c.(1954-1956)cCa>cAa	p.P652Q	PLCB1_ENST00000338037.6_Missense_Mutation_p.P652Q|PLCB1_ENST00000378637.2_Missense_Mutation_p.P652Q|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	652	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGATTGAAGCCAGAGTTCATG	0.423000													15	67					2.31682e-05	6.34405e-05	0.00316338	1	0
SEC23A	10484	broad.mit.edu	37	14	39565170	39565170	+	Silent	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:39565170T>C	ENST00000307712.6	-	2	670	c.153A>G	c.(151-153)ttA>ttG	p.L51L	SEC23A_ENST00000545328.2_Silent_p.L51L|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000553970.1_Silent_p.L51L|SEC23A_ENST00000548032.2_Silent_p.L51L|SEC23A_ENST00000557280.1_Silent_p.L51L	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	51					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAATAGGTGGTAAGTCAGGTC	0.413000													14	50					0	0	0.00316338	0	0
CNGA2	1260	broad.mit.edu	37	X	150912370	150912370	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:150912370G>C	ENST00000329903.4	+	6	1428	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	465					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGTAGAGCTGGTACTGA	0.522000													19	30					0	0	0.00121646	0	0
ERC2	26059	broad.mit.edu	37	3	56468821	56468821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:56468821G>T	ENST00000288221.6	-	2	470	c.215C>A	c.(214-216)tCa>tAa	p.S72*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507000													46	70					6.7651e-33	2.01472e-32	0.00361006	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604557	62604557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:62604557C>A	ENST00000281156.4	-	6	1071	c.793G>T	c.(793-795)Gaa>Taa	p.E265*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCATAAGCTTCATGGGCTGGA	0.478000													19	63					6.44725e-10	1.81412e-09	0.00229938	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410194	105410194	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105410194C>A	ENST00000333244.5	-	7	11713	c.11594G>T	c.(11593-11595)cGc>cTc	p.R3865L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						nucleus		p.R3865H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGCGAGCTTGGAC	0.607000													82	189					9.35349e-44	2.80605e-43	0.00361006	1	0
CA1	759	broad.mit.edu	37	8	86244757	86244757	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:86244757G>T	ENST00000523953.1	-	7	1521	c.475C>A	c.(475-477)Cag>Aag	p.Q159K	CA1_ENST00000542576.1_Missense_Mutation_p.Q159K|CA1_ENST00000432364.2_Missense_Mutation_p.Q159K|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Missense_Mutation_p.Q159K|CA1_ENST00000431316.1_Missense_Mutation_p.Q159K|CA1_ENST00000523022.1_Missense_Mutation_p.Q159K			P00915	CAH1_HUMAN	carbonic anhydrase I	159					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTCTGCAGCTTTGGG	0.328000													13	31					7.93312e-07	2.20185e-06	0.00244969	1	0
YEATS2	55689	broad.mit.edu	37	3	183469895	183469895	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:183469895G>A	ENST00000305135.5	+	10	1199	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	335					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATTCTCTCGGAGAAGACTGT	0.493000													49	117					0	0	0.00361006	0	0
ACAP3	116983	broad.mit.edu	37	1	1235353	1235353	+	Splice_Site	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1235353C>G	ENST00000354700.5	-	8	865	c.663_splice	c.e8+1	p.E221_splice	ACAP3_ENST00000353662.3_Splice_Site_p.E179_splice	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	221					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTCACCTCGGCTGCCA	0.632000													7	22					0	0	0.00307968	0	0
TMEM252	169693	broad.mit.edu	37	9	71155642	71155642	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:71155642C>G	ENST00000377311.3	-	1	141	c.89G>C	c.(88-90)tGg>tCg	p.W30S		NM_153237.1	NP_694969.1			transmembrane protein 252																		TATGGAGCCCCAGGAAATGAA	0.522000													20	42					0	0	0.00121646	0	0
SDF4	51150	broad.mit.edu	37	1	1152946	1152946	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1152946G>A	ENST00000360001.6	-	7	1297	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	345	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGCCCGTGAAGAACTCGCTGT	0.682000													11	57					0	0	0.000673444	0	0
PDCD11	22984	broad.mit.edu	37	10	105179454	105179454	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:105179454G>T	ENST00000369797.3	+	16	2360	c.2266G>T	c.(2266-2268)Gcc>Tcc	p.A756S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	756	S1 motif 8.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCGGACTGGCCCCAAAAGC	0.488000													10	54					4.68919e-08	1.3104e-07	0.000673444	1	0
FCF1	51077	broad.mit.edu	37	14	75199488	75199488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:75199488T>A	ENST00000341162.4	+	6	474	c.420T>A	c.(418-420)taT>taA	p.Y140*	FCF1_ENST00000534938.2_Nonsense_Mutation_p.Y128*|FCF1_ENST00000553615.1_Nonsense_Mutation_p.Y125*	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	140	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AAGGAACCTATGCAGATGACT	0.343000													6	76					0	0	0.00116845	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251315	140251315	+	Silent	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:140251315C>A	ENST00000458420.3	+	9	1684	c.1494C>A	c.(1492-1494)ggC>ggA	p.G498G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	498					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCACAGTCGGCGCTTGTTGGC	0.443000										HNSCC(16;0.037)			24	72					0.000117367	0.000319238	0.000878237	1	0
WDFY3	23001	broad.mit.edu	37	4	85707147	85707147	+	Silent	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:85707147T>C	ENST00000322366.6	-	24	4454	c.4047A>G	c.(4045-4047)aaA>aaG	p.K1349K	WDFY3_ENST00000295888.4_Silent_p.K1349K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1349						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGCAATGGCTTTGCTATCCA	0.418000													24	46					0	0	0.00395357	0	0
DDX59	83479	broad.mit.edu	37	1	200635479	200635479	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:200635479C>A	ENST00000447706.2	-	2	541	c.390G>T	c.(388-390)gaG>gaT	p.E130D	DDX59_ENST00000331314.6_Missense_Mutation_p.E130D|DDX59_ENST00000367348.3_Missense_Mutation_p.E130D			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	130						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCGCTTTACACTCCAAACTAC	0.448000													20	58					2.37509e-13	6.77649e-13	0.00152264	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20893267	20893267	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:20893267C>T	ENST00000381552.1	+	12	2066	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	SLCO1C1_ENST00000540354.1_Silent_p.S517S|SLCO1C1_ENST00000545102.1_Silent_p.S448S|SLCO1C1_ENST00000266509.2_Silent_p.S566S|SLCO1C1_ENST00000545604.1_Silent_p.S566S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	566					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATACTTTATCCCTAGGTGGCA	0.378000													31	93					0	0	0.00327116	0	0
GDPD5	81544	broad.mit.edu	37	11	75152748	75152748	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:75152748C>T	ENST00000526177.1	-	9	2732	c.854G>A	c.(853-855)aGa>aAa	p.R285K	GDPD5_ENST00000529721.1_Missense_Mutation_p.R423K|GDPD5_ENST00000533784.1_Missense_Mutation_p.R304K|GDPD5_ENST00000376282.3_Missense_Mutation_p.R304K|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R178K|GDPD5_ENST00000336898.3_Missense_Mutation_p.R423K			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	423	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GATGTGGCCTCTCCGCAGGCT	0.672000													6	13					0	0	0.00116845	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703871	47703871	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:47703871G>A	ENST00000254480.5	-	20	2230	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	704					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTCCACCACAGATGCCAAAAA	0.493000													9	21					0	0	0.000442599	0	0
VPS13B	157680	broad.mit.edu	37	8	100147948	100147948	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:100147948C>T	ENST00000395996.1	+	11	1661	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	VPS13B_ENST00000357162.2_Missense_Mutation_p.S517L|VPS13B_ENST00000355155.1_Missense_Mutation_p.S517L|VPS13B_ENST00000358544.2_Missense_Mutation_p.S517L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	517					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTTGGATTCAACTCATCAT	0.348000													6	42					0	0	0.00307968	0	0
IFT88	8100	broad.mit.edu	37	13	21217595	21217595	+	Splice_Site	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr13:21217595T>G	ENST00000382778.4	+	20	2829	c.1709_splice	c.e20-1	p.Y571_splice	IFT88_ENST00000319980.6_Splice_Site_p.Y571_splice|IFT88_ENST00000351808.5_Splice_Site_p.Y562_splice|IFT88_ENST00000537103.1_Splice_Site_p.Y543_splice			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	571					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTGCATAAGATATGAATTAAT	0.323000													20	16					0	0	0.00121646	0	0
AFF1	4299	broad.mit.edu	37	4	87968051	87968051	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:87968051T>C	ENST00000307808.6	+	3	763	c.343T>C	c.(343-345)Tcc>Ccc	p.S115P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S122P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	115						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCACCACCAGTCCATTCACAC	0.488000													18	98					0	0	0.00152264	0	0
ZAN	7455	broad.mit.edu	37	7	100349865	100349865	+	RNA	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:100349865T>C	ENST00000542585.1	+	0	2285				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.502000													5	111					0	0	0.00116845	0	0
ESPNP	284729	broad.mit.edu	37	1	17023363	17023363	+	RNA	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:17023363C>G	ENST00000492551.1	-	0	1584					NR_026567.1																						GCCTTAATCTCAGCCAGTAGC	0.622000													8	54					0	0	0.00307968	0	0
RXFP3	51289	broad.mit.edu	37	5	33937017	33937017	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:33937017G>T	ENST00000330120.3	+	1	527	c.172G>T	c.(172-174)Gac>Tac	p.D58Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	58						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGTTGCCGGACGGCGCGCC	0.687000													41	59					1.15505e-17	3.34227e-17	0.00222228	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647000													8	209					0	0	0.00307968	0	0
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													6	7	---	---	---	---					
POM121L12	285877	broad.mit.edu	37	7	53104149	53104149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:53104149delC	ENST00000408890.4	+	1	801	c.785delC	c.(784-786)tcfs	p.S262fs		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	262										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCCCATCCGCCATCTGG	0.657													40	74	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104751259	104751259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:104751259delT	ENST00000334877.4	+	25	4420	c.3886delT	c.(3886-3888)gtfs	p.C1296fs	SRPK2_ENST00000493638.1_5'UTR|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.C393fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.C1338fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.C1338fs					lysine (K)-specific methyltransferase 2E																		TACGAATGAATGTCCATCCCC	0.358													55	103	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(268-273)aggcgg>agGGCgcgg	p.90_91RR>RAR	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	90	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782													6	1	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15469032	15469033	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:15469032_15469033insG	ENST00000380733.4	-	13	1471_1472	c.1128_1129insC	c.(1126-1131)gctggafs	p.G377fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.G377fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	377					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGTTCATCCAAGGCCTCAATGC	0.361													17	24	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105419961	105419962	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105419961_105419962delTG	ENST00000333244.5	-	7	1945_1946	c.1826_1827delCA	c.(1825-1827)afs	p.T609fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	609						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTGCTCTGTGTCTTCTGT	0.475													10	613	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31319985	31319986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr18:31319985_31319986insA	ENST00000269197.5	+	11	2617_2618	c.2617_2618insA	c.(2617-2619)aaafs	p.K873fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGTG	0.376													31	39	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703989	53703990	+	RNA	INS	-	-	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:53703989_53703990insC	ENST00000597550.1	+	0	232																											TTGTTCTGTTTCCCCCtttttt	0.470													2	4	---	---	---	---					
ACSS1	84532	broad.mit.edu	37	20	25038539	25038567	+	Frame_Shift_Del	DEL	CGGGCTGCCTGTGCACTCAGCGCGGGATA	CGGGCTGCCTGTGCACTCAGCGCGGGATA	-	rs73348757	by1000genomes	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA	ENST00000323482.4	-	1	251_279	c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG	c.(172-201)gfs	p.YPALSAQAAR58fs	ACSS1_ENST00000432802.2_Frame_Shift_Del_p.YPALSAQAAR58fs|ACSS1_ENST00000376726.3_Frame_Shift_Del_p.YPALSAQAAR58fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	58					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCGGCTCCCGGGCTGCCTGTGCACTCAGCGCGGGATACGAGCCTGGC	0.734													12	34	---	---	---	---					
