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
NFASC	23114	broad.mit.edu	37	1	204978741	204978741	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:204978741T>G	ENST00000367172.4	+	30	3995	c.3667T>G	c.(3667-3669)Tgc>Ggc	p.C1223G	NFASC_ENST00000338515.6_Missense_Mutation_p.C1133G|NFASC_ENST00000367169.4_Missense_Mutation_p.C947G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000401399.1_Missense_Mutation_p.C1116G|NFASC_ENST00000404076.1_Missense_Mutation_p.C1033G|NFASC_ENST00000338586.6_Missense_Mutation_p.C1100G|NFASC_ENST00000367170.4_Missense_Mutation_p.C1144G|NFASC_ENST00000404907.1_Missense_Mutation_p.C1050G|NFASC_ENST00000539706.1_Missense_Mutation_p.C1050G|NFASC_ENST00000367171.4_Missense_Mutation_p.C1208G|NFASC_ENST00000360049.4_Missense_Mutation_p.C1045G|NFASC_ENST00000513543.1_Missense_Mutation_p.C1045G|NFASC_ENST00000339876.6_Missense_Mutation_p.C1116G			O94856	NFASC_HUMAN	neurofascin	1223					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGCTTATGTGCGCCATCGC	0.592000													7	49					0	0	0.029380	0	0
PLA2R1	22925	broad.mit.edu	37	2	160825846	160825846	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:160825846T>C	ENST00000283243.7	-	19	2891	c.2685A>G	c.(2683-2685)atA>atG	p.I895M	PLA2R1_ENST00000392771.1_Missense_Mutation_p.I895M	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	895	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTGGTATATCACTGGTG	0.393000													8	41					0	0	0.047766	0	0
FAM150A	389658	broad.mit.edu	37	8	53452412	53452412	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:53452412T>C	ENST00000358543.4	-	3	554	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	FAM150A_ENST00000523939.1_Missense_Mutation_p.R102G	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	102						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GAGCACTCCCTGGTATTGTAA	0.373000													3	51					0	0	0.004672	0	0
EMCN	51705	broad.mit.edu	37	4	101386581	101386581	+	Splice_Site	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:101386581C>A	ENST00000296420.4	-	4	553	c.376_splice	c.e4+1	p.K125_splice	EMCN_ENST00000511970.1_Splice_Site_p.K125_splice|EMCN_ENST00000305864.3_Splice_Site_p.K125_splice|EMCN_ENST00000502327.1_5'UTR	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	125	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CATACTTACTCTTGGGTTTGG	0.373000													16	48					4.7546e-09	6.00269e-09	0.028581	1	0
BCL11A	53335	broad.mit.edu	37	2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGTGGCCCTCGGCCTCGGCC	0.667000			T	IGH@	B-CLL								5	39					0	0	0.014758	0	0
FZR1	51343	broad.mit.edu	37	19	3526259	3526259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:3526259G>A	ENST00000441788.2	+	5	498	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	FZR1_ENST00000395095.3_Missense_Mutation_p.G88S|FZR1_ENST00000313639.8_Missense_Mutation_p.G88S	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	88					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCAGACGGCCTGGCCTA	0.677000													6	19					0	0	0.021553	0	0
CSMD1	64478	broad.mit.edu	37	8	2796121	2796121	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:2796121A>G	ENST00000520002.1	-	71	11239	c.10684T>C	c.(10684-10686)Tgt>Cgt	p.C3562R	CSMD1_ENST00000400186.3_Missense_Mutation_p.C3385R|CSMD1_ENST00000602557.1_Missense_Mutation_p.C3562R|CSMD1_ENST00000542608.1_Missense_Mutation_p.C3384R|CSMD1_ENST00000537824.1_Missense_Mutation_p.C3561R|CSMD1_ENST00000602723.1_Missense_Mutation_p.C3385R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3562						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACTGTACAGACTGTGTTC	0.468000													5	19					0	0	0.014758	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097866	108097866	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:108097866T>C	ENST00000374720.3	+	4	539	c.292T>C	c.(292-294)Tgc>Cgc	p.C98R	SLC44A1_ENST00000374724.1_Missense_Mutation_p.C98R|SLC44A1_ENST00000374723.1_Missense_Mutation_p.C98R|SLC44A1_ENST00000607692.1_3'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	98						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGGATCCATGCAACCTGGA	0.403000													9	81					0	0	0.047766	0	0
DYDC2	84332	broad.mit.edu	37	10	82126492	82126492	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:82126492G>A	ENST00000372199.1	+	6	917	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DYDC2_ENST00000372198.1_Missense_Mutation_p.E121K|DYDC2_ENST00000372197.1_Missense_Mutation_p.E107K|DYDC2_ENST00000256039.2_Missense_Mutation_p.E107K|DYDC2_ENST00000444807.2_Missense_Mutation_p.E107K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	107							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ATTCATGCAGGAGGACACAAA	0.438000													33	115					0	0	0.045705	0	0
LINGO2	158038	broad.mit.edu	37	9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488000													12	50					3.07112e-06	3.73714e-06	0.080935	1	0
MAVS	57506	broad.mit.edu	37	20	3845265	3845265	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:3845265T>C	ENST00000428216.2	+	6	1116	c.988T>C	c.(988-990)Tca>Cca	p.S330P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S189P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	330					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCCAACTAGCTCAAAGCCCCC	0.552000													4	113					0	0	0.009096	0	0
SZT2	23334	broad.mit.edu	37	1	43912750	43912750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:43912750G>A	ENST00000562955.1	+	65	9026	c.9026G>A	c.(9025-9027)cGg>cAg	p.R3009Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R2167Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3066						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						CTGGTGCTGCGGCACGGCTAC	0.597000													3	31					0	0	0.004672	0	0
TIAM2	26230	broad.mit.edu	37	6	155450592	155450592	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:155450592G>A	ENST00000367174.2	+	0	443				TIAM2_ENST00000360366.4_Missense_Mutation_p.G79S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G79S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G79S|TIAM2_ENST00000461783.3_Missense_Mutation_p.G79S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G79S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCGAGACTCGGTGGCCCCAC	0.562000													8	33					0	0	0.069234	0	0
CCDC18	343099	broad.mit.edu	37	1	93680428	93680428	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:93680428T>A	ENST00000343253.7	+	12	2123	c.1621T>A	c.(1621-1623)Ttg>Atg	p.L541M	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.L542M|CCDC18_ENST00000338949.4_Missense_Mutation_p.L341M|CCDC18_ENST00000557479.1_Missense_Mutation_p.L660M			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	541										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTCTGATTTGAAGGTTAA	0.378000													3	27					0	0	0.004672	0	0
DOCK9	23348	broad.mit.edu	37	13	99449739	99449739	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:99449739T>C	ENST00000376460.1	-	54	6043	c.5963A>G	c.(5962-5964)aAt>aGt	p.N1988S	DOCK9_ENST00000339416.2_Missense_Mutation_p.N1975S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1989	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGGCCAGCATTGACCTAGAC	0.428000													4	18					0	0	0.009096	0	0
ZNF22	7570	broad.mit.edu	37	10	45498926	45498926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:45498926T>C	ENST00000298299.3	+	2	703	c.110T>C	c.(109-111)aTt>aCt	p.I37T	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	37					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGCATGACTATTCGATTTGAC	0.463000													14	52					0	0	0.020292	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541898	40541898	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:40541898A>C	ENST00000434248.1	-	5	933	c.868T>G	c.(868-870)Tca>Gca	p.S290A	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAAGATTTGAACCACGATTA	0.368000													3	101					0	0	0.004672	0	0
VPS13D	55187	broad.mit.edu	37	1	12331121	12331121	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:12331121G>A	ENST00000358136.3	+	17	2173	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	VPS13D_ENST00000356315.4_Silent_p.K681K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	681					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAAGCTGAAGATGCAGACCA	0.458000													4	52					0	0	0.009096	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													3	48					0	0	0.004672	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753268	41753268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:41753268C>T	ENST00000359201.5	+	5	1161	c.572C>T	c.(571-573)gCt>gTt	p.A191V	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A191V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A151V|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A151V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A191V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	151	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCTGCCCGGCTTGTGACCAG	0.602000													4	28					0	0	0.009096	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428416	1428416	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:1428416G>A	ENST00000355432.3	+	11	1217	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCGCCTCCGCGACACGGGGGA	0.493000													10	127					0	0	0.080935	0	0
NFYC	4802	broad.mit.edu	37	1	41228713	41228713	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:41228713A>T	ENST00000372652.1	+	7	983	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	NFYC_ENST00000427410.2_Missense_Mutation_p.I201F|NFYC_ENST00000372651.1_Missense_Mutation_p.I239F|NFYC_ENST00000372653.1_Missense_Mutation_p.I205F|NFYC_ENST00000372654.1_Missense_Mutation_p.I239F|NFYC_ENST00000308733.5_Missense_Mutation_p.I239F|NFYC_ENST00000425457.2_Missense_Mutation_p.I239F|NFYC_ENST00000456393.2_Missense_Mutation_p.I239F|NFYC_ENST00000447388.3_Missense_Mutation_p.I239F|NFYC_ENST00000440226.3_Missense_Mutation_p.I239F			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	239					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATCCAGCAGATCCCGGTGAG	0.448000													8	11					0	0	0.047766	0	0
NMS	129521	broad.mit.edu	37	2	101096979	101096979	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:101096979G>T	ENST00000376865.1	+	7	365	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	120					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTGCAGTGGACTTCACCAA	0.557000													11	48					2.62699e-14	3.44579e-14	0.024245	1	0
PTPRE	5791	broad.mit.edu	37	10	129839235	129839235	+	Silent	SNP	C	C	T	rs144835853		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:129839235C>T	ENST00000254667.3	+	3	369	c.90C>T	c.(88-90)aaC>aaT	p.N30N	PTPRE_ENST00000471218.1_Silent_p.N30N|PTPRE_ENST00000419012.2_Silent_p.N30N|PTPRE_ENST00000430713.2_Silent_p.N30N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	30					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CCGACAGCAACGAGACAACCA	0.607000													4	23					0	0	0.021553	0	0
ACACB	32	broad.mit.edu	37	12	109696115	109696115	+	Silent	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:109696115G>T	ENST00000338432.7	+	46	6425	c.6306G>T	c.(6304-6306)cgG>cgT	p.R2102R	ACACB_ENST00000377854.5_Silent_p.R2032R|ACACB_ENST00000377848.3_Silent_p.R2102R|ACACB_ENST00000543201.1_Silent_p.R768R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2102	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGAGACACGGACTGTGGAGG	0.632000													9	32					2.17888e-05	2.61984e-05	0.058154	1	0
TMEM104	54868	broad.mit.edu	37	17	72791738	72791738	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:72791738C>T	ENST00000335464.5	+	8	765	c.603C>T	c.(601-603)ccC>ccT	p.P201P	TMEM104_ENST00000417024.2_Silent_p.P214P|TMEM104_ENST00000582773.1_Silent_p.P201P|TMEM104_ENST00000582330.1_Silent_p.P201P	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	201						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTGGGGGCCCCTGCGCCGAG	0.607000													9	30					0	0	0.093190	0	0
CARTPT	9607	broad.mit.edu	37	5	71016344	71016344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:71016344G>A	ENST00000296777.4	+	3	384	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	85					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGTGACGCCGGTGAGCAGTG	0.507000													6	8					0	0	0.021553	0	0
SGK223	157285	broad.mit.edu	37	8	8185602	8185602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:8185602G>A	ENST00000520004.1	-	5	2954	c.2690C>T	c.(2689-2691)gCg>gTg	p.A897V	SGK223_ENST00000330777.4_Missense_Mutation_p.A897V			Q86YV5	SG223_HUMAN		897							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTGTTGCCCGCCAGCCCTGC	0.662000													31	139					0	0	0.034045	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6264018	6264018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:6264018C>A	ENST00000400104.3	-	5	347	c.147G>T	c.(145-147)caG>caT	p.Q49H	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q49H			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	49					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACCATGCTCCCTGTGCAGCCG	0.423000													8	81					0.00448238	0.00503023	0.047766	1	0
PHF2	5253	broad.mit.edu	37	9	96418259	96418259	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:96418259C>T	ENST00000359246.4	+	8	1363	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	332	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCCTGGCCTTCGCGGGACATT	0.637000													3	16					0	0	0.004672	0	0
OR4D10	390197	broad.mit.edu	37	11	59245249	59245249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:59245249C>T	ENST00000530162.1	+	1	404	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478000													25	68					0	0	0.076483	0	0
ACOT11	26027	broad.mit.edu	37	1	55058224	55058224	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:55058224G>T	ENST00000371316.3	+	4	399	c.317G>T	c.(316-318)gGa>gTa	p.G106V	ACOT11_ENST00000343744.2_Missense_Mutation_p.G106V|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	106	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGTGTTGGACAAGTGGTG	0.607000													13	53					4.36969e-10	5.58657e-10	0.105934	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913257	77913257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:77913257C>A	ENST00000321110.1	-	2	956	c.661G>T	c.(661-663)Gct>Tct	p.A221S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	221							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AACTCTGAAGCTGCTGATGTC	0.517000													5	26					0.000602214	0.000691178	0.014758	1	0
TBCK	93627	broad.mit.edu	37	4	107170083	107170083	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:107170083T>C	ENST00000273980.4	-	9	1162	c.715A>G	c.(715-717)Ata>Gta	p.I239V	TBCK_ENST00000394708.2_Missense_Mutation_p.I239V|TBCK_ENST00000361687.4_Missense_Mutation_p.I176V|TBCK_ENST00000432496.2_Missense_Mutation_p.I239V|TBCK_ENST00000394706.3_Missense_Mutation_p.I200V			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	239	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAACCTTTATAATGTCCAAA	0.294000													7	19					0	0	0.029380	0	0
VPS72	6944	broad.mit.edu	37	1	151149264	151149264	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151149264C>T	ENST00000354473.4	-	6	1020	c.984G>A	c.(982-984)aaG>aaA	p.K328K	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	317					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACGAATGATCTTGAAGGCTC	0.597000													8	88					0	0	0.038147	0	0
CDH18	1016	broad.mit.edu	37	5	19721469	19721469	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:19721469G>A	ENST00000507958.1	-	7	1620	c.630C>T	c.(628-630)gtC>gtT	p.V210V	CDH18_ENST00000382275.1_Silent_p.V210V|CDH18_ENST00000511273.1_Silent_p.V210V|CDH18_ENST00000502796.1_Silent_p.V210V|CDH18_ENST00000506372.1_Silent_p.V210V|CDH18_ENST00000274170.4_Silent_p.V210V			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTAGGGTCGACGGAGAAGT	0.453000													22	70					0	0	0.069288	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652000													3	79					0	0	0.004672	0	0
MNAT1	4331	broad.mit.edu	37	14	61201602	61201602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:61201602C>T	ENST00000261245.4	+	1	123	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	MNAT1_ENST00000555545.1_3'UTR|MNAT1_ENST00000539616.2_Missense_Mutation_p.R8W	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	8					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GGGTTGCCCTCGGTGTAAGAC	0.592000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	65					0	0	0.029380	0	0
AARS	16	broad.mit.edu	37	16	70295032	70295032	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:70295032T>C	ENST00000261772.8	-	13	1843	c.1700A>G	c.(1699-1701)cAg>cGg	p.Q567R	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	567					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TCCTCGGACCTGAGCATTCTT	0.398000													3	70					0	0	0.009096	0	0
ALPK2	115701	broad.mit.edu	37	18	56171233	56171233	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:56171233C>T	ENST00000361673.3	-	11	6390	c.6177G>A	c.(6175-6177)caG>caA	p.Q2059Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2059	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCAACATTTCTGACCAGCTT	0.488000													8	116					0	0	0.038147	0	0
BSN	8927	broad.mit.edu	37	3	49688471	49688471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr3:49688471G>A	ENST00000296452.4	+	4	2059	c.1945G>A	c.(1945-1947)Gtc>Atc	p.V649I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	649					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCCCTGTCGTCAAGGCTGT	0.592000													9	55					0	0	0.058154	0	0
NOD1	10392	broad.mit.edu	37	7	30485828	30485828	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:30485828G>A	ENST00000222823.4	-	9	2907	c.2382C>T	c.(2380-2382)aaC>aaT	p.N794N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	794					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTTATTTTGTTTTTTCCCA	0.522000													13	147					0	0	0.093190	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829390	146829390	+	Silent	SNP	C	C	T	rs78543192	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTTTTTCAACGCTACAAGTT	0.458000										HNSCC(39;0.1)			12	89					0	0	0.080935	0	0
LGR4	55366	broad.mit.edu	37	11	27395209	27395209	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:27395209T>A	ENST00000379214.4	-	15	1711	c.1268A>T	c.(1267-1269)aAt>aTt	p.N423I	LGR4_ENST00000389858.4_Missense_Mutation_p.N399I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	423						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTTAATTCATTGAAACTTAC	0.333000													18	25					0	0	0.038395	0	0
OBSCN	84033	broad.mit.edu	37	1	228467143	228467143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:228467143C>T	ENST00000570156.2	+	32	8755	c.8681C>T	c.(8680-8682)tCa>tTa	p.S2894L	OBSCN_ENST00000359599.6_Missense_Mutation_p.S1312L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2465L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2465L|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1894	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGGTCTCAGGTGAGCAC	0.682000													4	38					0	0	0.014758	0	0
CFHR2	3080	broad.mit.edu	37	1	196918742	196918742	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:196918742C>T	ENST00000367415.4	+	2	330	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.C72C	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408000													9	21					0	0	0.047766	0	0
GPAT2	150763	broad.mit.edu	37	2	96689170	96689170	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:96689170C>A	ENST00000434632.1	-	19	2374	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S	GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.A639S|GPAT2_ENST00000453542.1_Missense_Mutation_p.A568S			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	639					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGTCACAGGCTGGCCGGGAG	0.587000													5	47					3.59834e-05	4.27567e-05	0.021553	1	0
PCDH12	51294	broad.mit.edu	37	5	141334957	141334957	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:141334957C>T	ENST00000231484.3	-	1	3670	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	820					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACAGGGTCGGGGTGAGGT	0.612000													12	34					0	0	0.080935	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			53	141					0	0	0.048971	0	0
SRGAP1	57522	broad.mit.edu	37	12	64456755	64456755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:64456755C>G	ENST00000355086.3	+	7	1384	c.860C>G	c.(859-861)gCg>gGg	p.A287G	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A287G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A247G|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	287					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATCTGTCTGCGGAGTACAAC	0.413000													7	30					0	0	0.029380	0	0
SPATA13	221178	broad.mit.edu	37	13	24876816	24876816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:24876816G>A	ENST00000424834.2	+	15	4212	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	SPATA13_ENST00000382095.4_Missense_Mutation_p.V622I|SPATA13_ENST00000382108.3_Missense_Mutation_p.V1247I|SPATA13_ENST00000399949.2_Missense_Mutation_p.V544I|SPATA13_ENST00000409126.1_Missense_Mutation_p.V482I|SPATA13_ENST00000343003.6_Missense_Mutation_p.V566I			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	622					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCACAAGCGTCCCCCAGCA	0.622000													29	102					0	0	0.030593	0	0
CCDC132	55610	broad.mit.edu	37	7	92987685	92987685	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:92987685C>T	ENST00000544910.1	+	29	2962	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Silent_p.I944I|CCDC132_ENST00000535481.1_Silent_p.I664I	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383000													7	53					0	0	0.029380	0	0
PDE4D	5144	broad.mit.edu	37	5	58270507	58270507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:58270507C>T	ENST00000340635.6	-	15	2589	c.2414G>A	c.(2413-2415)cGt>cAt	p.R805H	PDE4D_ENST00000546160.1_Missense_Mutation_p.R744H|PDE4D_ENST00000358923.6_Missense_Mutation_p.R503H|PDE4D_ENST00000502484.2_Missense_Mutation_p.R744H|PDE4D_ENST00000405755.2_Missense_Mutation_p.R683H|PDE4D_ENST00000360047.5_Missense_Mutation_p.R669H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R741H|PDE4D_ENST00000503258.1_Missense_Mutation_p.R675H|PDE4D_ENST00000317118.8_Missense_Mutation_p.R514H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	805					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GTCAGGAGAACGATCATCTAT	0.433000													29	140					0	0	0.045705	0	0
MTHFS	10588	broad.mit.edu	37	15	80181637	80181637	+	Silent	SNP	T	T	C	rs142942013		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:80181637T>C	ENST00000258874.3	-	2	237	c.177A>G	c.(175-177)caA>caG	p.Q59Q	ST20-MTHFS_ENST00000494999.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Silent_p.Q35Q|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CAATTTCATCTTGCATGCTCA	0.398000													12	61					0	0	0.080935	0	0
LINGO4	339398	broad.mit.edu	37	1	151774040	151774040	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151774040A>G	ENST00000368820.3	-	2	2078	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	381	LRRCT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGGGGGGACATGCCAAAG	0.622000													10	55					0	0	0.069234	0	0
DISP1	84976	broad.mit.edu	37	1	223178539	223178539	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:223178539T>C	ENST00000284476.6	+	8	3964	c.3800T>C	c.(3799-3801)cTg>cCg	p.L1267P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1267					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTTCTCTCTGAATCAGAGA	0.517000													3	149					0	0	0.014758	0	0
BMP2	650	broad.mit.edu	37	20	6758934	6758934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:6758934G>T	ENST00000378827.4	+	3	1608	c.389G>T	c.(388-390)cGg>cTg	p.R130L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAAACAACCCGGAGATTCTTC	0.393000													5	41					1.024e-07	1.27684e-07	0.014758	1	0
NEB	4703	broad.mit.edu	37	2	152534283	152534283	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:152534283G>A	ENST00000427231.2	-	34	3772	c.3570C>T	c.(3568-3570)aaC>aaT	p.N1190N	NEB_ENST00000172853.10_Silent_p.N1190N|NEB_ENST00000604864.1_Silent_p.N1190N|NEB_ENST00000603639.1_Silent_p.N1190N|NEB_ENST00000397345.3_Silent_p.N1190N|NEB_ENST00000409198.1_Silent_p.N1190N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1190					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGTAGACGTTCTACAGCA	0.463000													43	166					0	0	0.042209	0	0
LCMT2	9836	broad.mit.edu	37	15	43622318	43622318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:43622318C>G	ENST00000305641.5	-	1	485	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	124					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCAATCCTTTCTGCTTTGCGC	0.627000													3	99					0	0	0.009096	0	0
VASH2	79805	broad.mit.edu	37	1	213147325	213147325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:213147325C>T	ENST00000366968.4	+	8	1063	c.713C>T	c.(712-714)cCg>cTg	p.P238L	VASH2_ENST00000366965.2_Missense_Mutation_p.P259L|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000517399.1_Missense_Mutation_p.P303L|VASH2_ENST00000366967.2_Missense_Mutation_p.P199L|VASH2_ENST00000366966.2_Missense_Mutation_p.P238L	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	303					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCCCACTCTCCGACCCAAGTG	0.567000													4	58					0	0	0.021553	0	0
TBC1D32	221322	broad.mit.edu	37	6	121401926	121401926	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:121401926C>G	ENST00000275159.6	-	33	3887	c.3888G>C	c.(3886-3888)caG>caC	p.Q1296H	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.Q1255H					TBC1 domain family, member 32																		TCTATGTGCTCTGCAGTCTAA	0.378000													6	41					0	0	0.021553	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	rs150975249	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:77325275C>T	ENST00000282849.5	-	21	3708	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTAATATTACGGCATCTTCG	0.502000													23	234					0	0	0.099896	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084786	147084786	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:147084786T>A	ENST00000370467.3	+	2	417	c.343T>A	c.(343-345)Tct>Act	p.S115T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	115						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGCCAATCTCTGGAAGA	0.363000													23	40					0	0	0.062417	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTGGCTTTGCCGAGGCAGGG	0.592000													4	101					0	0	0.009096	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480853	27480853	+	Silent	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:27480853G>T	ENST00000233535.4	-	4	850	c.498C>A	c.(496-498)gtC>gtA	p.V166V	SLC30A3_ENST00000447008.2_Silent_p.V161V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	166					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCAGGCGGACGAAGGCCA	0.627000													13	42					1.61879e-10	2.09613e-10	0.093190	1	0
SLC30A6	55676	broad.mit.edu	37	2	32422829	32422829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:32422829C>A	ENST00000282587.5	+	10	636	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	SLC30A6_ENST00000435660.1_Missense_Mutation_p.P200Q|SLC30A6_ENST00000406369.1_Missense_Mutation_p.P126Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.P240Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.P3Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.P171Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	200						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CGAATGAATCCATTTGTTTTG	0.338000													23	77					1.37657e-19	1.82938e-19	0.062417	1	0
HELLS	3070	broad.mit.edu	37	10	96350210	96350210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:96350210G>T	ENST00000348459.5	+	14	1634	c.1529G>T	c.(1528-1530)cGa>cTa	p.R510L	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R412L|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.R556L|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	510					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CGACCAAAACGACGAACTAGA	0.343000													12	46					2.27111e-07	2.79734e-07	0.093190	1	0
TICRR	90381	broad.mit.edu	37	15	90168446	90168446	+	Silent	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:90168446C>A	ENST00000268138.7	+	20	5010	c.4905C>A	c.(4903-4905)ggC>ggA	p.G1635G	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.G1634G					TOPBP1-interacting checkpoint and replication regulator																		GCACACCTGGCAAGAGCAGGG	0.612000													8	54					0.000274275	0.000318411	0.047766	1	0
MED13L	23389	broad.mit.edu	37	12	116408480	116408480	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:116408480T>C	ENST00000281928.3	-	27	6192	c.5986A>G	c.(5986-5988)Atc>Gtc	p.I1996V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1996					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACACCAAGATGTGTGTACAA	0.478000													11	47					0	0	0.069234	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275560	130275560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:130275560G>A	ENST00000257359.6	-	9	3269	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	855	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTACAGTTCGCCTCTGCCAG	0.652000													5	86					0	0	0.014758	0	0
ADRBK2	157	broad.mit.edu	37	22	26114347	26114347	+	Splice_Site	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr22:26114347G>A	ENST00000324198.5	+	19	1982	c.1791_splice	c.e19+1	p.R597_splice		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	597	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGAGTCCCGGGTAAGTCTA	0.453000													13	72					0	0	0.105934	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													3	38					0	0	0.004672	0	0
PTX4	390667	broad.mit.edu	37	16	1537325	1537325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:1537325G>C	ENST00000447419.2	-	2	813	c.788C>G	c.(787-789)cCa>cGa	p.P263R	PTX4_ENST00000293922.1_Missense_Mutation_p.P258R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	263						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACTCTCTCCTGGCACCTGGGG	0.632000													9	45					0	0	0.058154	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578522	85578522	+	RNA	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:85578522T>C	ENST00000590707.1	+	0	245					NR_003719.2																						TTTTGACCCATCATGTGTTTG	0.448000													23	44					0	0	0.076483	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	33					0	0	0.093190	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661264	176661264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:176661264G>A	ENST00000367662.3	+	6	3598	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	812					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCACAGATGATAACTGCAC	0.458000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	76					0	0	0.069234	0	0
NCR1	9437	broad.mit.edu	37	19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:55421380G>A	ENST00000594765.1	+	5	662	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438000													4	144					0	0	0.009096	0	0
PLEC	5339	broad.mit.edu	37	8	144997709	144997709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:144997709G>C	ENST00000322810.4	-	31	6968	c.6799C>G	c.(6799-6801)Cag>Gag	p.Q2267E	PLEC_ENST00000527096.1_Missense_Mutation_p.Q2153E|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2130E|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2157E|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2098E|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2108E|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2130E|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2134E|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2116E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2267	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGTGCCTGAGCCCGGGCC	0.746000													3	25					0	0	0.009096	0	0
ZNF324	25799	broad.mit.edu	37	19	58983227	58983227	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:58983227G>A	ENST00000536459.2	+	4	2077	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	ZNF324_ENST00000535298.1_Silent_p.V233V|ZNF324_ENST00000196482.3_Silent_p.V456V			O75467	Z324A_HUMAN	zinc finger protein 324	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCGCTGCGTGGACTGTGGCA	0.692000													21	66					0	0	0.062417	0	0
AC105399.2	0	broad.mit.edu	37	2	78019880	78019880	+	RNA	DEL	T	T	-			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:78019880delT	ENST00000422418.1	+	0	130																											TAAAAATTCCTTTTTTTTTTT	0.393													3	3	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3156043	3156043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:3156043delC	ENST00000355072.5	+	27	3667	c.3522delC	c.(3520-3522)aafs	p.N1174fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1174					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTAACAAACCCCCCTTCTC	0.408													5	9	---	---	---	---					
FAM118B	79607	broad.mit.edu	37	11	126126642	126126642	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:126126642delA	ENST00000533050.1	+	7	1370	c.877delA	c.(877-879)tgfs	p.M293fs	FAM118B_ENST00000360194.4_Frame_Shift_Del_p.M293fs	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	293										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TCGAGAAAACATGCTGGACAA	0.453													32	140	---	---	---	---