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
PDS5A	23244	broad.mit.edu	37	4	39978105	39978105	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:39978105C>T	ENST00000303538.8	-	2	632	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDS5A_ENST00000503396.1_Silent_p.E31E	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	31					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCGGTGATCTCTTTTACCC	0.567000											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	107					0	0	0.019004	0	0
SDHA	6389	broad.mit.edu	37	5	225544	225544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000510361.1_Intron|SDHA_ENST00000504309.1_Missense_Mutation_p.N108S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572000									Familial Paragangliomas				4	97					0	0	0.009096	0	0
SCAF4	57466	broad.mit.edu	37	21	33065610	33065610	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr21:33065610T>A	ENST00000286835.7	-	12	1892	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C	SCAF4_ENST00000434667.3_Missense_Mutation_p.S489C|SCAF4_ENST00000399804.1_Missense_Mutation_p.S504C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	504						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGTTACCACTTGCAGTTTCC	0.388000													20	58					0	0	0.008871	0	0
PCDH10	57575	broad.mit.edu	37	4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:134071537G>A	ENST00000264360.4	+	1	1068	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	81	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567000													27	90					0	0	0.006320	0	0
TENM2	57451	broad.mit.edu	37	5	167545383	167545383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:167545383G>T	ENST00000519204.1	+	9	1655	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.D634Y|TENM2_ENST00000520394.1_Missense_Mutation_p.D402Y|TENM2_ENST00000518659.1_Missense_Mutation_p.D634Y|TENM2_ENST00000403607.2_Missense_Mutation_p.D467Y					teneurin transmembrane protein 2																		TGCAGAGTGCGACGTGCCCAT	0.572000													49	179					3.86236e-30	5.4297e-30	0.014410	1	0
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:26360245C>T	ENST00000374280.3	+	9	2444	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	526					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.T526M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582000													36	94					0	0	0.017118	0	0
DRD1	1812	broad.mit.edu	37	5	174869350	174869350	+	Silent	SNP	G	G	A	rs147169569		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:174869350G>A	ENST00000393752.2	-	2	1745	c.753C>T	c.(751-753)gtC>gtT	p.V251V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	251					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAGAACATTCGACAGGCTTTC	0.478000													26	82					0	0	0.007291	0	0
DST	667	broad.mit.edu	37	6	56473921	56473921	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:56473921G>A	ENST00000370754.5	-	39	5405	c.5406C>T	c.(5404-5406)ctC>ctT	p.L1802L	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Silent_p.L1624L|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.L1298L|DST_ENST00000361203.3_Silent_p.L1624L|DST_ENST00000312431.6_Silent_p.L1624L|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1624					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAGTTCTTTGAGTTGGCACA	0.383000													54	157					0	0	0.014410	0	0
ALG10	84920	broad.mit.edu	37	12	34179455	34179455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:34179455G>C	ENST00000266483.2	+	3	1346	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	343					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTCACTTATGCTCATAAATA	0.303000													22	87					0	0	0.021523	0	0
KMT2D	8085	broad.mit.edu	37	12	49415846	49415846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:49415846G>A	ENST00000301067.7	-	53	16500	c.16501C>T	c.(16501-16503)Cga>Tga	p.R5501*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R5231*(4)|p.R5501*(2)									TTGGGGATTCGCCGGCTGGAG	0.512000													45	127					0	0	0.013114	0	0
LRRC15	131578	broad.mit.edu	37	3	194080356	194080356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:194080356C>A	ENST00000347624.3	-	2	1502	c.1417G>T	c.(1417-1419)Gtt>Ttt	p.V473F	LRRC15_ENST00000428839.1_Missense_Mutation_p.V479F|LRRC15_ENST00000439944.2_Missense_Mutation_p.V479F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	473	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ACGCTTGGAACAGCAACGTTG	0.542000													6	25					8.12818e-05	9.4992e-05	0.001984	1	0
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr7:136699801C>T	ENST00000445907.2	+	3	717	c.189C>T	c.(187-189)ttC>ttT	p.F63F	AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Silent_p.F63F|CHRM2_ENST00000401861.1_Silent_p.F63F|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.F63F|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F63F|CHRM2_ENST00000453373.1_Silent_p.F63F|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468000													33	94					0	0	0.015359	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651181	1651181	+	Silent	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:1651181C>A	ENST00000399676.2	+	1	149	c.111C>A	c.(109-111)ggC>ggA	p.G37G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	37						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggctgtggctccg	0.721000													21	87					1.64293e-13	2.15358e-13	0.018920	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533761	156533761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:156533761C>T	ENST00000307851.4	-	2	1001	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G91R|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	91	Ig-like V-type.					integral to membrane		p.G91R(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACATCTCCTTTGCGGAAA	0.453000													4	133					0	0	0.009096	0	0
UBAP1	51271	broad.mit.edu	37	9	34241766	34241766	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:34241766T>C	ENST00000536252.1	+	5	1141	c.743T>C	c.(742-744)cTg>cCg	p.L248P	UBAP1_ENST00000359544.2_Missense_Mutation_p.L248P|UBAP1_ENST00000543944.1_Missense_Mutation_p.L284P|UBAP1_ENST00000545103.1_Missense_Mutation_p.L312P|UBAP1_ENST00000379186.4_Missense_Mutation_p.L248P|UBAP1_ENST00000297661.4_Missense_Mutation_p.L248P|UBAP1_ENST00000540348.1_Missense_Mutation_p.L248P	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	248						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAGATGTCACTGTCTTCCAAA	0.468000													18	34					0	0	0.006122	0	0
PRLHR	2834	broad.mit.edu	37	10	120353933	120353933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr10:120353933C>A	ENST00000239032.2	-	2	962	c.824G>T	c.(823-825)cGc>cTc	p.R275L	PRLHR_ENST00000369169.1_Missense_Mutation_p.R275L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGAAGGTGCGCCGGCGCCG	0.687000													7	25					2.0095e-06	2.43652e-06	0.001984	1	0
C9orf96	169436	broad.mit.edu	37	9	136253278	136253278	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:136253278C>A	ENST00000371957.3	+	5	449	c.342C>A	c.(340-342)agC>agA	p.S114R	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.S114R	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	114	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGAGCTCAGCTTCCAGGAGG	0.567000													20	63					5.49717e-05	6.50275e-05	0.018920	1	0
VPS16	64601	broad.mit.edu	37	20	2844656	2844656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:2844656A>G	ENST00000380445.3	+	16	1610	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	VPS16_ENST00000380469.3_Missense_Mutation_p.D369G|VPS16_ENST00000380443.3_Missense_Mutation_p.D199G|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	513					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AAGCTGGGGGACACGCCTGGT	0.582000													5	64					0	0	0.028581	0	0
FAT1	2195	broad.mit.edu	37	4	187629108	187629108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:187629108G>T	ENST00000441802.2	-	2	2083	c.1874C>A	c.(1873-1875)tCa>tAa	p.S625*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	625	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGCTTTAATGACAATACCCC	0.408000										HNSCC(5;0.00058)			18	45					1.00905e-13	1.34079e-13	0.008871	1	0
IRAK1	3654	broad.mit.edu	37	X	153278841	153278841	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chrX:153278841A>C	ENST00000369980.3	-	12	1750	c.1583T>G	c.(1582-1584)gTg>gGg	p.V528G	IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.V449G|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393687.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	528					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCGGGCACCCCCGCCAC	0.662000													6	21					0	0	0.013537	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109605	42109605	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:42109605C>T	ENST00000457542.2	+	15	2017	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R	MAPKBP1_ENST00000456763.2_Silent_p.R583R|MAPKBP1_ENST00000514566.1_Silent_p.R577R|MAPKBP1_ENST00000221214.6_Silent_p.R460R|MAPKBP1_ENST00000260357.7_Silent_p.R416R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAAGTCCGCATGATCAGCT	0.612000													18	52					0	0	0.007413	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796801	42796801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:42796801C>T	ENST00000314073.5	+	6	906	c.730C>T	c.(730-732)Caa>Taa	p.Q244*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q244*					GLTSCR1-like																		CAGCGGGCAGCAAGCCCCATC	0.448000													16	47					0	0	0.024245	0	0
OR2T34	127068	broad.mit.edu	37	1	248737781	248737781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:248737781C>T	ENST00000328782.2	-	1	299	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATCATCTCCAGTGACCTG	0.562000													17	57					0	0	0.007291	0	0
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:76082938C>T	ENST00000335749.4	+	13	4126	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A1189V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592000													5	166					0	0	0.014758	0	0
USP49	25862	broad.mit.edu	37	6	41774580	41774580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:41774580G>A	ENST00000394253.3	-	3	471	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	USP49_ENST00000297229.2_Missense_Mutation_p.R48C|USP49_ENST00000373009.3_Missense_Mutation_p.R48C|USP49_ENST00000373006.1_Missense_Mutation_p.R48C|USP49_ENST00000373010.1_Missense_Mutation_p.R48C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	48					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAATATAGCGGCCGCAGGCC	0.592000													5	132					0	0	0.014758	0	0
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135447890A>C	ENST00000343036.2	+	7	1004	c.956A>C	c.(955-957)cAc>cCc	p.H319P	C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	319										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AACTACACCCACCCCTAGCCC	0.597000													6	27					0	0	0.013537	0	0
KCNK5	8645	broad.mit.edu	37	6	39159505	39159505	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:39159505C>A	ENST00000359534.3	-	5	999	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGGTACAGGGCGTGGTAGTTG	0.567000													42	109					6.5261e-18	9.04332e-18	0.008740	1	0
ADAM11	4185	broad.mit.edu	37	17	42855361	42855361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:42855361G>A	ENST00000200557.6	+	24	2281	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.W504*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	704	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCAGACTGGACAGGCAAAG	0.612000													37	127					0	0	0.023175	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738863	176738863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:176738863G>A	ENST00000367662.3	+	16	5608	c.4444G>A	c.(4444-4446)Gga>Aga	p.G1482R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1482	Sushi 2.				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						CTGCTCAGAGGGAACCAAATT	0.522000													15	139					0	0	0.028581	0	0
ALPK1	80216	broad.mit.edu	37	4	113347690	113347690	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:113347690G>T	ENST00000458497.1	+	8	969	c.690G>T	c.(688-690)ccG>ccT	p.P230P	ALPK1_ENST00000177648.9_Silent_p.P230P|ALPK1_ENST00000504176.2_Silent_p.P152P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	230							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCCTCAGCCGGATAAAAAGG	0.423000													19	64					8.10497e-08	1.02102e-07	0.010504	1	0
FAT4	79633	broad.mit.edu	37	4	126373729	126373729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:126373729G>T	ENST00000394329.3	+	9	11571	c.11558G>T	c.(11557-11559)gGa>gTa	p.G3853V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2151V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3853	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCTGCCAGGATATGCGGGT	0.463000													11	46					7.03913e-09	8.98415e-09	0.013537	1	0
KLHL1	57626	broad.mit.edu	37	13	70549904	70549904	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:70549904A>C	ENST00000377844.4	-	2	1287	c.528T>G	c.(526-528)ccT>ccG	p.P176P	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	176					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATCACTTTGAGGTGTCATTG	0.398000													14	42					0	0	0.004990	0	0
ZNF860	344787	broad.mit.edu	37	3	32032156	32032156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:32032156C>T	ENST00000360311.4	+	2	2134	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGCACGTCATCATAGACTTCA	0.383000													19	41					0	0	0.010504	0	0
PIGR	5284	broad.mit.edu	37	1	207109003	207109003	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207109003C>T	ENST00000356495.4	-	5	1389	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	402	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAACCCACCCCTCGCTGTCCA	0.627000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0.004482	0	0
CD48	962	broad.mit.edu	37	1	160650998	160650998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:160650998T>C	ENST00000368046.3	-	3	733	c.646A>G	c.(646-648)Acc>Gcc	p.T216A	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	216					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCCAGGGTACAGGGTGGA	0.522000													13	51					0	0	0.016723	0	0
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726000													4	32					0	0	0.009096	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771119	145771119	+	Missense_Mutation	SNP	C	C	T	rs141083413		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:145771119C>T	ENST00000276826.5	-	5	2236	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.V679I|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.V679I			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	679					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTGGGGAAGACGCAGCTGGAG	0.647000													9	40					0	0	0.004482	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733334	126733334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:126733334C>T	ENST00000393409.2	+	12	2618	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T850M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	873	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCCCGAGACGGGCCCGAGG	0.706000													9	33					0	0	0.004482	0	0
SETX	23064	broad.mit.edu	37	9	135147149	135147149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135147149C>T	ENST00000372169.2	-	24	7329	c.7147G>A	c.(7147-7149)Gat>Aat	p.D2383N	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Intron|SETX_ENST00000224140.5_Missense_Mutation_p.D2383N			Q7Z333	SETX_HUMAN	senataxin	2383					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACACAATCCTTCTGCCGA	0.368000													7	177					0	0	0.003080	0	0
AJAP1	55966	broad.mit.edu	37	1	4829977	4829977	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:4829977C>T	ENST00000378191.4	+	3	1275	c.894C>T	c.(892-894)atC>atT	p.I298I	AJAP1_ENST00000378190.3_Silent_p.I298I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	298					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCTCTCATCACAACTCTTG	0.537000													40	149					0	0	0.008740	0	0
CRNN	49860	broad.mit.edu	37	1	152383314	152383314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:152383314C>A	ENST00000271835.3	-	3	306	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	82	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCTGGGCAACTTTAAAC	0.567000													22	128					0.000175454	0.000202608	0.010504	1	0
GTF3C1	2975	broad.mit.edu	37	16	27504019	27504019	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:27504019C>T	ENST00000356183.4	-	18	2907	c.2892G>A	c.(2890-2892)tcG>tcA	p.S964S	GTF3C1_ENST00000561623.1_Silent_p.S964S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	964						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTCCACCACCGAAAAAATGT	0.557000													32	74					0	0	0.010818	0	0
FHOD1	29109	broad.mit.edu	37	16	67264614	67264614	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:67264614C>T	ENST00000258201.4	-	18	2995	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L	FHOD1_ENST00000567687.1_Silent_p.L495L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	916	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATGCTTGGCCAAGCTCCGCA	0.662000													41	150					0	0	0.025465	0	0
SYMPK	8189	broad.mit.edu	37	19	46318949	46318949	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46318949C>T	ENST00000245934.7	-	27	3938	c.3694G>A	c.(3694-3696)Gca>Aca	p.A1232T	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1232					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCCCGCTGCCGTCTCCTGG	0.701000													4	13					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12958457	12958457	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:12958457G>C	ENST00000251472.4	+	6	559	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E170Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	174					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTACGACAACGAGATCGTGAT	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	54					0	0	0.018920	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:534289C>A	ENST00000417302.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000451590.1_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			7	44					2.0095e-06	2.43652e-06	0.001984	1	0
MRVI1	10335	broad.mit.edu	37	11	10650331	10650331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:10650331G>A	ENST00000547195.1	-	5	846	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	MRVI1_ENST00000527509.2_Missense_Mutation_p.R116W|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.R198W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R198W|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.R198W|MRVI1_ENST00000423302.2_Missense_Mutation_p.R207W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R116W|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.R207W	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	198					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGTTGCTCCGAGAGGATGTA	0.597000													4	2					0	0	0.009096	0	0
TP53BP1	7158	broad.mit.edu	37	15	43771645	43771645	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:43771645C>T	ENST00000263801.3	-	7	975	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TP53BP1_ENST00000450115.2_Silent_p.Q246Q|TP53BP1_ENST00000382039.3_Silent_p.Q246Q|TP53BP1_ENST00000382044.4_Silent_p.Q246Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	241					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTACTGGGCTGTGCTGTCA	0.418000								Other conserved DNA damage response genes					29	61					0	0	0.006320	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253956	39253956	+	Silent	SNP	G	G	A	rs139720993	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:39253956G>A	ENST00000333822.4	-	1	437	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	127	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.P127P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						tgctgcagctggggcggcagc	0.677000													5	11					0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240371360	240371360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:240371360C>T	ENST00000319653.9	+	5	3478	c.3248C>T	c.(3247-3249)gCg>gTg	p.A1083V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1083	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCGGAGCGGGCATACCC	0.731000													6	25					0	0	0.001984	0	0
PSMC6	5706	broad.mit.edu	37	14	53175510	53175510	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:53175510A>T	ENST00000445930.2	+	4	282	c.276A>T	c.(274-276)agA>agT	p.R92S	PSMC6_ENST00000606149.1_Missense_Mutation_p.R78S			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATGGACCAAGATATGTTGTGG	0.328000													15	42					0	0	0.007413	0	0
CHD8	57680	broad.mit.edu	37	14	21863099	21863099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:21863099C>A	ENST00000399982.2	-	29	5426	c.5362G>T	c.(5362-5364)Gaa>Taa	p.E1788*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1509*|CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1788*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1788					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTGCAATTTCTTTCAGCTTG	0.493000													24	62					5.61819e-17	7.56895e-17	0.027356	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	14					0	0	0.004672	0	0
LILRA1	11024	broad.mit.edu	37	19	55107315	55107315	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:55107315C>T	ENST00000251372.3	+	6	1055	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	291	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCGCTCCTACGGGGGCCAGT	0.662000													28	70					0	0	0.027356	0	0
FAM135B	51059	broad.mit.edu	37	8	139164609	139164609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:139164609C>A	ENST00000395297.1	-	13	2279	c.2109G>T	c.(2107-2109)agG>agT	p.R703S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	703								p.R703R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCAGAGCCCTGCTTCGGG	0.547000										HNSCC(54;0.14)			12	52					1.08611e-07	1.35067e-07	0.010729	1	0
SCOC	60592	broad.mit.edu	37	4	141300319	141300319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:141300319C>A	ENST00000394203.3	+	2	293	c.115C>A	c.(115-117)Ccc>Acc	p.P39T	SCOC_ENST00000506597.1_Missense_Mutation_p.P76T|SCOC_ENST00000338517.4_Missense_Mutation_p.P39T|SCOC_ENST00000502535.1_5'UTR|SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000394205.3_Missense_Mutation_p.P39T|SCOC_ENST00000512749.1_5'UTR|SCOC_ENST00000394201.3_Missense_Mutation_p.P76T	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	76						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTTGTTACCCAAGATGAT	0.343000													23	113					5.61819e-17	7.56895e-17	0.027356	1	0
CA4	762	broad.mit.edu	37	17	58234830	58234830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:58234830G>A	ENST00000300900.4	+	4	410	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	104					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTGGAGGAGGACTGCCTGCC	0.587000													23	92					0	0	0.014323	0	0
RNF113B	140432	broad.mit.edu	37	13	98828825	98828825	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:98828825G>A	ENST00000267291.6	-	1	694	c.666C>T	c.(664-666)ctC>ctT	p.L222L	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532000													32	93					0	0	0.012213	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													3	143					0	0	0.004672	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271609	26271609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:26271609C>A	ENST00000305910.3	-	1	3	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGTGCGGGCCATCTCAGAC	0.552000													11	44					3.86212e-05	4.62501e-05	0.008291	1	0
HECW2	57520	broad.mit.edu	37	2	197183966	197183966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:197183966C>T	ENST00000260983.2	-	9	1830	c.1648G>A	c.(1648-1650)Ggt>Agt	p.G550S	HECW2_ENST00000409111.1_Missense_Mutation_p.G194S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCGCCTTCACCTTCCTCTGGG	0.582000													13	41					0	0	0.013537	0	0
FH	2271	broad.mit.edu	37	1	241680611	241680611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:241680611G>C	ENST00000366560.3	-	2	176	c.138C>G	c.(136-138)agC>agG	p.S46R	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	46					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGGAATTTTGGCTTGCCTAAA	0.378000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				11	36					0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:10369888T>C	ENST00000255381.2	-	3	285	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCC	0.463000													3	235					0	0	0.009096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503288	110503288	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:110503288T>A	ENST00000378402.5	+	61	10176	c.10072T>A	c.(10072-10074)Ttg>Atg	p.L3358M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3358					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACAGATGGATTGGACATAGA	0.378000										HNSCC(38;0.096)			26	58					0	0	0.024334	0	0
CRB2	286204	broad.mit.edu	37	9	126133118	126133118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:126133118G>A	ENST00000373631.3	+	7	1787	c.1786G>A	c.(1786-1788)Ggt>Agt	p.G596S	CRB2_ENST00000373629.2_Missense_Mutation_p.G264S|CRB2_ENST00000359999.3_Missense_Mutation_p.G596S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	596	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGGATCTCGGTGAGAACGT	0.652000													3	68					0	0	0.004672	0	0
ZNF827	152485	broad.mit.edu	37	4	146770712	146770712	+	Splice_Site	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:146770712C>T	ENST00000508784.1	-	6	2210	c.1981_splice	c.e6-1	p.A661_splice	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Splice_Site_p.A311_splice|ZNF827_ENST00000379448.4_Splice_Site_p.A661_splice			Q17R98	ZN827_HUMAN	zinc finger protein 827	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGTAGCTTTCCGCTGCAAGTA	0.438000													21	84					0	0	0.012319	0	0
APLP1	333	broad.mit.edu	37	19	36360482	36360482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:36360482G>A	ENST00000586861.1	+	1	108	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	APLP1_ENST00000221891.4_Intron|APLP1_ENST00000537454.2_Intron			P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	0					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGGTGCTGGGGGTCTCGGT	0.706000													5	12					0	0	0.014758	0	0
MACF1	23499	broad.mit.edu	37	1	39908232	39908232	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:39908232A>T	ENST00000564288.1	+	77	19874	c.19097A>T	c.(19096-19098)aAg>aTg	p.K6366M	MACF1_ENST00000567887.1_Missense_Mutation_p.K6403M|MACF1_ENST00000289893.4_Missense_Mutation_p.K4809M|MACF1_ENST00000539005.1_Missense_Mutation_p.K4177M|MACF1_ENST00000545844.1_Missense_Mutation_p.K4307M|MACF1_ENST00000361689.2_Missense_Mutation_p.K4307M|MACF1_ENST00000317713.7_Missense_Mutation_p.K4307M|MACF1_ENST00000372915.3_Missense_Mutation_p.K6265M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6374					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCGCAAAGCACCATGTA	0.403000													24	39					0	0	0.024334	0	0
MCM4	4173	broad.mit.edu	37	8	48883929	48883929	+	Missense_Mutation	SNP	G	G	T	rs151044076		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:48883929G>T	ENST00000262105.2	+	12	2038	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	MCM4_ENST00000523944.1_Missense_Mutation_p.R610L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493000													7	32					0.000274275	0.000312996	0.004482	1	0
CAT	847	broad.mit.edu	37	11	34485744	34485744	+	Missense_Mutation	SNP	C	C	T	rs139875365	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:34485744C>T	ENST00000241052.4	+	10	1377	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	430					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGAGAAGTGCGGAGATTCAA	0.463000													25	77					0	0	0.016522	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263259	140263259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:140263259C>T	ENST00000289272.2	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P469L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCGCCGGGCTGC	0.677000													44	121					0	0	0.009718	0	0
YOD1	55432	broad.mit.edu	37	1	207222672	207222672	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207222672T>C	ENST00000367084.1	-	4	812	c.608A>G	c.(607-609)gAt>gGt	p.D203G	YOD1_ENST00000315927.4_Missense_Mutation_p.D247G|YOD1_ENST00000391927.1_Missense_Mutation_p.D203G	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	247	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCAAAACGATCAATTCTTAC	0.403000													47	119					0	0	0.014410	0	0
KCNE4	23704	broad.mit.edu	37	2	223918016	223918016	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:223918016C>T	ENST00000281830.3	+	2	952	c.621C>T	c.(619-621)aaC>aaT	p.N207N	KCNE4_ENST00000604125.1_Silent_p.N156N|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	156						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCCCTCAACGAGAGCAGCG	0.627000													10	40					0	0	0.006214	0	0
FAM78A	286336	broad.mit.edu	37	9	134136553	134136553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:134136553C>T	ENST00000372271.3	-	2	875	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.V167M	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	170										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTGACGGGCACGGCCCATGTG	0.577000													26	70					0	0	0.006320	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													5	19					0	0	0.014758	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567000													24	86					0	0	0.024334	0	0
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:125398267A>C	ENST00000536769.1	-	1	1627	c.51T>G	c.(49-51)gtT>gtG	p.V17V	UBC_ENST00000339647.5_Silent_p.V17V|UBC_ENST00000538617.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	17	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473000													4	216					0	0	0.021553	0	0
FBN3	84467	broad.mit.edu	37	19	8174522	8174522	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:8174522G>T	ENST00000600128.1	-	35	4863	c.4449C>A	c.(4447-4449)ggC>ggA	p.G1483G	FBN3_ENST00000601739.1_Silent_p.G1483G|FBN3_ENST00000270509.2_Silent_p.G1483G			Q75N90	FBN3_HUMAN	fibrillin 3	1483	EGF-like 23; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCCACGCAGCCCACTCCGC	0.582000													24	79					5.35356e-11	6.92393e-11	0.016522	1	0
PDS5A	23244	broad.mit.edu	37	4	39978105	39978105	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:39978105C>T	ENST00000303538.8	-	2	632	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDS5A_ENST00000503396.1_Silent_p.E31E	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	31					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCGGTGATCTCTTTTACCC	0.567000											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	107					0	0	0.019004	0	0
SDHA	6389	broad.mit.edu	37	5	225544	225544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000510361.1_Intron|SDHA_ENST00000504309.1_Missense_Mutation_p.N108S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572000									Familial Paragangliomas				4	97					0	0	0.009096	0	0
SCAF4	57466	broad.mit.edu	37	21	33065610	33065610	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr21:33065610T>A	ENST00000286835.7	-	12	1892	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C	SCAF4_ENST00000399804.1_Missense_Mutation_p.S504C|SCAF4_ENST00000434667.3_Missense_Mutation_p.S489C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	504						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGTTACCACTTGCAGTTTCC	0.388000													20	58					0	0	0.008871	0	0
PCDH10	57575	broad.mit.edu	37	4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:134071537G>A	ENST00000264360.4	+	1	1068	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	81	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567000													27	90					0	0	0.006320	0	0
TENM2	57451	broad.mit.edu	37	5	167545383	167545383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr5:167545383G>T	ENST00000519204.1	+	9	1655	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.D402Y|TENM2_ENST00000403607.2_Missense_Mutation_p.D467Y|TENM2_ENST00000518659.1_Missense_Mutation_p.D634Y|TENM2_ENST00000545108.1_Missense_Mutation_p.D634Y					teneurin transmembrane protein 2																		TGCAGAGTGCGACGTGCCCAT	0.572000													49	179					3.86236e-30	5.73319e-30	0.014410	1	0
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:26360245C>T	ENST00000374280.3	+	9	2444	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	526					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.T526M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582000													36	94					0	0	0.017118	0	0
DRD1	1812	broad.mit.edu	37	5	174869350	174869350	+	Silent	SNP	G	G	A	rs147169569		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr5:174869350G>A	ENST00000393752.2	-	2	1745	c.753C>T	c.(751-753)gtC>gtT	p.V251V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	251					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAGAACATTCGACAGGCTTTC	0.478000													26	82					0	0	0.007291	0	0
DST	667	broad.mit.edu	37	6	56473921	56473921	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr6:56473921G>A	ENST00000370754.5	-	39	5405	c.5406C>T	c.(5404-5406)ctC>ctT	p.L1802L	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L1624L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L1624L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L1298L|DST_ENST00000370769.4_Silent_p.L1624L			Q03001	DYST_HUMAN	dystonin	1624					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAGTTCTTTGAGTTGGCACA	0.383000													54	157					0	0	0.014410	0	0
ALG10	84920	broad.mit.edu	37	12	34179455	34179455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr12:34179455G>C	ENST00000266483.2	+	3	1346	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	343					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTCACTTATGCTCATAAATA	0.303000													22	87					0	0	0.021523	0	0
KMT2D	8085	broad.mit.edu	37	12	49415846	49415846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr12:49415846G>A	ENST00000301067.7	-	53	16500	c.16501C>T	c.(16501-16503)Cga>Tga	p.R5501*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R5231*(4)|p.R5501*(2)									TTGGGGATTCGCCGGCTGGAG	0.512000													45	127					0	0	0.013114	0	0
LRRC15	131578	broad.mit.edu	37	3	194080356	194080356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr3:194080356C>A	ENST00000347624.3	-	2	1502	c.1417G>T	c.(1417-1419)Gtt>Ttt	p.V473F	LRRC15_ENST00000439944.2_Missense_Mutation_p.V479F|LRRC15_ENST00000428839.1_Missense_Mutation_p.V479F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	473	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ACGCTTGGAACAGCAACGTTG	0.542000													6	25					8.12818e-05	9.7744e-05	0.001984	1	0
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr7:136699801C>T	ENST00000445907.2	+	3	717	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHRM2_ENST00000401861.1_Silent_p.F63F|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.F63F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.F63F|CHRM2_ENST00000397608.3_Silent_p.F63F|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.F63F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468000													33	94					0	0	0.015359	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651181	1651181	+	Silent	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:1651181C>A	ENST00000399676.2	+	1	149	c.111C>A	c.(109-111)ggC>ggA	p.G37G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	37						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggctgtggctccg	0.721000													21	87					1.64293e-13	2.26201e-13	0.018920	1	0
HAVCR2	84868	broad.mit.edu	37	5	156533761	156533761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr5:156533761C>T	ENST00000307851.4	-	2	1001	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G91R|HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	91	Ig-like V-type.					integral to membrane		p.G91R(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACATCTCCTTTGCGGAAA	0.453000													4	133					0	0	0.009096	0	0
UBAP1	51271	broad.mit.edu	37	9	34241766	34241766	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr9:34241766T>C	ENST00000536252.1	+	5	1141	c.743T>C	c.(742-744)cTg>cCg	p.L248P	UBAP1_ENST00000545103.1_Missense_Mutation_p.L312P|UBAP1_ENST00000379186.4_Missense_Mutation_p.L248P|UBAP1_ENST00000297661.4_Missense_Mutation_p.L248P|UBAP1_ENST00000543944.1_Missense_Mutation_p.L284P|UBAP1_ENST00000540348.1_Missense_Mutation_p.L248P|UBAP1_ENST00000359544.2_Missense_Mutation_p.L248P	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	248						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAGATGTCACTGTCTTCCAAA	0.468000													18	34					0	0	0.006122	0	0
PRLHR	2834	broad.mit.edu	37	10	120353933	120353933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr10:120353933C>A	ENST00000239032.2	-	2	962	c.824G>T	c.(823-825)cGc>cTc	p.R275L	PRLHR_ENST00000369169.1_Missense_Mutation_p.R275L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGAAGGTGCGCCGGCGCCG	0.687000													7	25					2.0095e-06	2.54536e-06	0.001984	1	0
C9orf96	169436	broad.mit.edu	37	9	136253278	136253278	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr9:136253278C>A	ENST00000371957.3	+	5	449	c.342C>A	c.(340-342)agC>agA	p.S114R	C9orf96_ENST00000426926.2_Missense_Mutation_p.S114R|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	114	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGAGCTCAGCTTCCAGGAGG	0.567000													20	63					5.49717e-05	6.69527e-05	0.018920	1	0
FAT3	120114	broad.mit.edu	37	11	92615997	92615997	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:92615997G>T	ENST00000298047.6	+	23	12392	c.12375G>T	c.(12373-12375)acG>acT	p.T4125T	FAT3_ENST00000409404.2_Silent_p.T4125T|FAT3_ENST00000533797.1_Silent_p.T460T|FAT3_ENST00000525166.1_Silent_p.T3975T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4125	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAACTGCACGCCGGGCTACG	0.632000										TCGA Ovarian(4;0.039)			4	22					1.23904e-05	1.5488e-05	0.014758	1	0
FAT1	2195	broad.mit.edu	37	4	187629108	187629108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:187629108G>T	ENST00000441802.2	-	2	2083	c.1874C>A	c.(1873-1875)tCa>tAa	p.S625*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	625	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGCTTTAATGACAATACCCC	0.408000										HNSCC(5;0.00058)			18	45					1.00905e-13	1.4097e-13	0.008871	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42109605	42109605	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr15:42109605C>T	ENST00000457542.2	+	15	2017	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R	MAPKBP1_ENST00000260357.7_Silent_p.R416R|MAPKBP1_ENST00000221214.6_Silent_p.R460R|MAPKBP1_ENST00000514566.1_Silent_p.R577R|MAPKBP1_ENST00000456763.2_Silent_p.R583R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAAGTCCGCATGATCAGCT	0.612000													18	52					0	0	0.007413	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796801	42796801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr6:42796801C>T	ENST00000314073.5	+	6	906	c.730C>T	c.(730-732)Caa>Taa	p.Q244*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q244*					GLTSCR1-like																		CAGCGGGCAGCAAGCCCCATC	0.448000													16	47					0	0	0.024245	0	0
OR2T34	127068	broad.mit.edu	37	1	248737781	248737781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:248737781C>T	ENST00000328782.2	-	1	299	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATCATCTCCAGTGACCTG	0.562000													17	57					0	0	0.007291	0	0
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:76082938C>T	ENST00000335749.4	+	13	4126	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592000													5	166					0	0	0.014758	0	0
USP49	25862	broad.mit.edu	37	6	41774580	41774580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr6:41774580G>A	ENST00000394253.3	-	3	471	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	USP49_ENST00000373009.3_Missense_Mutation_p.R48C|USP49_ENST00000373006.1_Missense_Mutation_p.R48C|USP49_ENST00000373010.1_Missense_Mutation_p.R48C|USP49_ENST00000297229.2_Missense_Mutation_p.R48C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	48					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAATATAGCGGCCGCAGGCC	0.592000													5	132					0	0	0.014758	0	0
KCNK5	8645	broad.mit.edu	37	6	39159505	39159505	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr6:39159505C>A	ENST00000359534.3	-	5	999	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGGTACAGGGCGTGGTAGTTG	0.567000													42	109					6.5261e-18	9.53815e-18	0.008740	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	87					0	0	0.004672	0	0
ADAM11	4185	broad.mit.edu	37	17	42855361	42855361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:42855361G>A	ENST00000200557.6	+	24	2281	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.W504*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	704	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCAGACTGGACAGGCAAAG	0.612000													37	127					0	0	0.023175	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738863	176738863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:176738863G>A	ENST00000367662.3	+	16	5608	c.4444G>A	c.(4444-4446)Gga>Aga	p.G1482R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1482	Sushi 2.				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						CTGCTCAGAGGGAACCAAATT	0.522000													15	139					0	0	0.028581	0	0
ALPK1	80216	broad.mit.edu	37	4	113347690	113347690	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:113347690G>T	ENST00000458497.1	+	8	969	c.690G>T	c.(688-690)ccG>ccT	p.P230P	ALPK1_ENST00000177648.9_Silent_p.P230P|ALPK1_ENST00000504176.2_Silent_p.P152P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	230							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCCTCAGCCGGATAAAAAGG	0.423000													19	64					8.10497e-08	1.06941e-07	0.010504	1	0
FAT4	79633	broad.mit.edu	37	4	126373729	126373729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:126373729G>T	ENST00000394329.3	+	9	11571	c.11558G>T	c.(11557-11559)gGa>gTa	p.G3853V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2151V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3853	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCTGCCAGGATATGCGGGT	0.463000													11	46					7.03913e-09	9.41855e-09	0.013537	1	0
KLHL1	57626	broad.mit.edu	37	13	70549904	70549904	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr13:70549904A>C	ENST00000377844.4	-	2	1287	c.528T>G	c.(526-528)ccT>ccG	p.P176P	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	176					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATCACTTTGAGGTGTCATTG	0.398000													14	42					0	0	0.004990	0	0
ZNF860	344787	broad.mit.edu	37	3	32032156	32032156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr3:32032156C>T	ENST00000360311.4	+	2	2134	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGCACGTCATCATAGACTTCA	0.383000													19	41					0	0	0.010504	0	0
PIGR	5284	broad.mit.edu	37	1	207109003	207109003	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:207109003C>T	ENST00000356495.4	-	5	1389	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	402	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAACCCACCCCTCGCTGTCCA	0.627000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0.004482	0	0
CD48	962	broad.mit.edu	37	1	160650998	160650998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:160650998T>C	ENST00000368046.3	-	3	733	c.646A>G	c.(646-648)Acc>Gcc	p.T216A	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	216					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCCAGGGTACAGGGTGGA	0.522000													13	51					0	0	0.016723	0	0
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726000													4	32					0	0	0.009096	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	36					0	0	0.009096	0	0
FAM78A	286336	broad.mit.edu	37	9	134136553	134136553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr9:134136553C>T	ENST00000372271.3	-	2	875	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	FAM78A_ENST00000372269.3_Missense_Mutation_p.V167M|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	170										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTGACGGGCACGGCCCATGTG	0.577000													26	70					0	0	0.006320	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771119	145771119	+	Missense_Mutation	SNP	C	C	T	rs141083413		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr8:145771119C>T	ENST00000276826.5	-	5	2236	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.V679I|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.V679I			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	679					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTGGGGAAGACGCAGCTGGAG	0.647000													9	40					0	0	0.004482	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733334	126733334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr3:126733334C>T	ENST00000393409.2	+	12	2618	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T850M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	873	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCCCGAGACGGGCCCGAGG	0.706000													9	33					0	0	0.004482	0	0
SETX	23064	broad.mit.edu	37	9	135147149	135147149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr9:135147149C>T	ENST00000372169.2	-	24	7329	c.7147G>A	c.(7147-7149)Gat>Aat	p.D2383N	SETX_ENST00000393220.1_Intron|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.D2383N			Q7Z333	SETX_HUMAN	senataxin	2383					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACACAATCCTTCTGCCGA	0.368000													7	177					0	0	0.003080	0	0
AJAP1	55966	broad.mit.edu	37	1	4829977	4829977	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:4829977C>T	ENST00000378191.4	+	3	1275	c.894C>T	c.(892-894)atC>atT	p.I298I	AJAP1_ENST00000378190.3_Silent_p.I298I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	298					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCTCTCATCACAACTCTTG	0.537000													40	149					0	0	0.008740	0	0
CRNN	49860	broad.mit.edu	37	1	152383314	152383314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:152383314C>A	ENST00000271835.3	-	3	306	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	82	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCTGGGCAACTTTAAAC	0.567000													22	128					0.000175454	0.000208352	0.010504	1	0
GTF3C1	2975	broad.mit.edu	37	16	27504019	27504019	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr16:27504019C>T	ENST00000356183.4	-	18	2907	c.2892G>A	c.(2890-2892)tcG>tcA	p.S964S	GTF3C1_ENST00000561623.1_Silent_p.S964S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	964						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTCCACCACCGAAAAAATGT	0.557000													32	74					0	0	0.010818	0	0
FHOD1	29109	broad.mit.edu	37	16	67264614	67264614	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr16:67264614C>T	ENST00000258201.4	-	18	2995	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L	FHOD1_ENST00000567687.1_Silent_p.L495L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	916	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATGCTTGGCCAAGCTCCGCA	0.662000													41	150					0	0	0.025465	0	0
SYMPK	8189	broad.mit.edu	37	19	46318949	46318949	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:46318949C>T	ENST00000245934.7	-	27	3938	c.3694G>A	c.(3694-3696)Gca>Aca	p.A1232T	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1232					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCCCGCTGCCGTCTCCTGG	0.701000													4	13					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12958457	12958457	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:12958457G>C	ENST00000251472.4	+	6	559	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E170Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	174					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTACGACAACGAGATCGTGAT	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	54					0	0	0.018920	0	0
NBAS	51594	broad.mit.edu	37	2	15468389	15468389	+	Silent	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr2:15468389T>C	ENST00000281513.5	-	37	4420	c.4395A>G	c.(4393-4395)gaA>gaG	p.E1465E	NBAS_ENST00000441750.1_Silent_p.E1345E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1465										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTCTAGATCTTCATTGGCTG	0.383000													3	155					0	0	0.004672	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:534289C>A	ENST00000417302.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			7	44					2.0095e-06	2.54536e-06	0.001984	1	0
MRVI1	10335	broad.mit.edu	37	11	10650331	10650331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:10650331G>A	ENST00000547195.1	-	5	846	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	MRVI1_ENST00000531107.1_Missense_Mutation_p.R198W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R198W|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.R116W|MRVI1_ENST00000541483.1_Missense_Mutation_p.R207W|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.R116W|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R207W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R198W	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	198					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGTTGCTCCGAGAGGATGTA	0.597000													4	2					0	0	0.009096	0	0
TP53BP1	7158	broad.mit.edu	37	15	43771645	43771645	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr15:43771645C>T	ENST00000263801.3	-	7	975	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TP53BP1_ENST00000382044.4_Silent_p.Q246Q|TP53BP1_ENST00000450115.2_Silent_p.Q246Q|TP53BP1_ENST00000382039.3_Silent_p.Q246Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	241					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTACTGGGCTGTGCTGTCA	0.418000								Other conserved DNA damage response genes					29	61					0	0	0.006320	0	0
LILRA1	11024	broad.mit.edu	37	19	55107315	55107315	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:55107315C>T	ENST00000251372.3	+	6	1055	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	291	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCGCTCCTACGGGGGCCAGT	0.662000													28	70					0	0	0.027356	0	0
PSMC6	5706	broad.mit.edu	37	14	53175510	53175510	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr14:53175510A>T	ENST00000445930.2	+	4	282	c.276A>T	c.(274-276)agA>agT	p.R92S	PSMC6_ENST00000606149.1_Missense_Mutation_p.R78S			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATGGACCAAGATATGTTGTGG	0.328000													15	42					0	0	0.007413	0	0
CHD8	57680	broad.mit.edu	37	14	21863099	21863099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr14:21863099C>A	ENST00000399982.2	-	29	5426	c.5362G>T	c.(5362-5364)Gaa>Taa	p.E1788*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1509*|CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1788*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1788					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTGCAATTTCTTTCAGCTTG	0.493000													24	62					5.61819e-17	7.96609e-17	0.027356	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	14					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139164609	139164609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr8:139164609C>A	ENST00000395297.1	-	13	2279	c.2109G>T	c.(2107-2109)agG>agT	p.R703S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	703								p.R703R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCAGAGCCCTGCTTCGGG	0.547000										HNSCC(54;0.14)			12	52					1.08611e-07	1.41343e-07	0.010729	1	0
SCOC	60592	broad.mit.edu	37	4	141300319	141300319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:141300319C>A	ENST00000394203.3	+	2	293	c.115C>A	c.(115-117)Ccc>Acc	p.P39T	SCOC_ENST00000338517.4_Missense_Mutation_p.P39T|SCOC_ENST00000502535.1_5'UTR|SCOC_ENST00000394201.3_Missense_Mutation_p.P76T|SCOC_ENST00000512749.1_5'UTR|SCOC_ENST00000394205.3_Missense_Mutation_p.P39T|SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000506597.1_Missense_Mutation_p.P76T	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	76						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTTGTTACCCAAGATGAT	0.343000													23	113					5.61819e-17	7.96609e-17	0.027356	1	0
CA4	762	broad.mit.edu	37	17	58234830	58234830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:58234830G>A	ENST00000300900.4	+	4	410	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	104					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTGGAGGAGGACTGCCTGCC	0.587000													23	92					0	0	0.014323	0	0
RNF113B	140432	broad.mit.edu	37	13	98828825	98828825	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr13:98828825G>A	ENST00000267291.6	-	1	694	c.666C>T	c.(664-666)ctC>ctT	p.L222L	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532000													32	93					0	0	0.012213	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													5	67					0	0	0.021553	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271609	26271609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr6:26271609C>A	ENST00000305910.3	-	1	3	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGTGCGGGCCATCTCAGAC	0.552000													11	44					3.86212e-05	4.76495e-05	0.008291	1	0
HECW2	57520	broad.mit.edu	37	2	197183966	197183966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr2:197183966C>T	ENST00000260983.2	-	9	1830	c.1648G>A	c.(1648-1650)Ggt>Agt	p.G550S	HECW2_ENST00000409111.1_Missense_Mutation_p.G194S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCGCCTTCACCTTCCTCTGGG	0.582000													13	41					0	0	0.013537	0	0
FH	2271	broad.mit.edu	37	1	241680611	241680611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:241680611G>C	ENST00000366560.3	-	2	176	c.138C>G	c.(136-138)agC>agG	p.S46R	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	46					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGGAATTTTGGCTTGCCTAAA	0.378000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				11	36					0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:10369888T>C	ENST00000255381.2	-	3	285	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCC	0.463000													3	235					0	0	0.009096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503288	110503288	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr8:110503288T>A	ENST00000378402.5	+	61	10176	c.10072T>A	c.(10072-10074)Ttg>Atg	p.L3358M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3358					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACAGATGGATTGGACATAGA	0.378000										HNSCC(38;0.096)			26	58					0	0	0.024334	0	0
CRB2	286204	broad.mit.edu	37	9	126133118	126133118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr9:126133118G>A	ENST00000373631.3	+	7	1787	c.1786G>A	c.(1786-1788)Ggt>Agt	p.G596S	CRB2_ENST00000373629.2_Missense_Mutation_p.G264S|CRB2_ENST00000359999.3_Missense_Mutation_p.G596S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	596	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGGATCTCGGTGAGAACGT	0.652000													3	68					0	0	0.004672	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	111					0	0	0.009096	0	0
ZNF827	152485	broad.mit.edu	37	4	146770712	146770712	+	Splice_Site	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:146770712C>T	ENST00000508784.1	-	6	2210	c.1981_splice	c.e6-1	p.A661_splice	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Splice_Site_p.A661_splice|ZNF827_ENST00000513320.1_Splice_Site_p.A311_splice			Q17R98	ZN827_HUMAN	zinc finger protein 827	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGTAGCTTTCCGCTGCAAGTA	0.438000													21	84					0	0	0.012319	0	0
APLP1	333	broad.mit.edu	37	19	36360482	36360482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:36360482G>A	ENST00000586861.1	+	1	108	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	APLP1_ENST00000537454.2_Intron|APLP1_ENST00000221891.4_Intron			P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	0					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGGTGCTGGGGGTCTCGGT	0.706000													5	12					0	0	0.014758	0	0
MACF1	23499	broad.mit.edu	37	1	39908232	39908232	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:39908232A>T	ENST00000564288.1	+	77	19874	c.19097A>T	c.(19096-19098)aAg>aTg	p.K6366M	MACF1_ENST00000372915.3_Missense_Mutation_p.K6265M|MACF1_ENST00000539005.1_Missense_Mutation_p.K4177M|MACF1_ENST00000317713.7_Missense_Mutation_p.K4307M|MACF1_ENST00000567887.1_Missense_Mutation_p.K6403M|MACF1_ENST00000289893.4_Missense_Mutation_p.K4809M|MACF1_ENST00000361689.2_Missense_Mutation_p.K4307M|MACF1_ENST00000545844.1_Missense_Mutation_p.K4307M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6374					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCGCAAAGCACCATGTA	0.403000													24	39					0	0	0.024334	0	0
MCM4	4173	broad.mit.edu	37	8	48883929	48883929	+	Missense_Mutation	SNP	G	G	T	rs151044076		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr8:48883929G>T	ENST00000262105.2	+	12	2038	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	MCM4_ENST00000523944.1_Missense_Mutation_p.R610L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493000													7	32					0.000274275	0.000321681	0.004482	1	0
CAT	847	broad.mit.edu	37	11	34485744	34485744	+	Missense_Mutation	SNP	C	C	T	rs139875365	by1000genomes	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr11:34485744C>T	ENST00000241052.4	+	10	1377	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	430					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGAGAAGTGCGGAGATTCAA	0.463000													25	77					0	0	0.016522	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263259	140263259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr5:140263259C>T	ENST00000289272.2	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P469L|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCGCCGGGCTGC	0.677000													44	121					0	0	0.009718	0	0
YOD1	55432	broad.mit.edu	37	1	207222672	207222672	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:207222672T>C	ENST00000367084.1	-	4	812	c.608A>G	c.(607-609)gAt>gGt	p.D203G	YOD1_ENST00000315927.4_Missense_Mutation_p.D247G|YOD1_ENST00000391927.1_Missense_Mutation_p.D203G	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	247	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCAAAACGATCAATTCTTAC	0.403000													47	119					0	0	0.014410	0	0
KCNE4	23704	broad.mit.edu	37	2	223918016	223918016	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr2:223918016C>T	ENST00000281830.3	+	2	952	c.621C>T	c.(619-621)aaC>aaT	p.N207N	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.N156N			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	156						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCCCTCAACGAGAGCAGCG	0.627000													10	40					0	0	0.006214	0	0
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567000													24	86					0	0	0.024334	0	0
FBN3	84467	broad.mit.edu	37	19	8174522	8174522	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:8174522G>T	ENST00000600128.1	-	35	4863	c.4449C>A	c.(4447-4449)ggC>ggA	p.G1483G	FBN3_ENST00000601739.1_Silent_p.G1483G|FBN3_ENST00000270509.2_Silent_p.G1483G			Q75N90	FBN3_HUMAN	fibrillin 3	1483	EGF-like 23; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCCACGCAGCCCACTCCGC	0.582000													24	79					5.35356e-11	7.26554e-11	0.016522	1	0
WDTC1	23038	broad.mit.edu	37	1	27614251	27614252	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:27614251_27614252insAT	ENST00000319394.3	+	6	913_914	c.378_379insAT	c.(376-381)actccafs	p.P127fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.P127fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	127							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAAAGGAGACCATCCACATGTT	0.564													11	21	---	---	---	---					
LOC102723924	102723924	broad.mit.edu	37	1	41730645	41730645	+	RNA	DEL	T	T	-	rs35691145		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:41730645delT	ENST00000445073.1	+	0	132																											TCTGAGCTGCttttttttttt	0.473													3	3	---	---	---	---					
RP11-98D18.15	0	broad.mit.edu	37	1	151730205	151730205	+	RNA	DEL	G	G	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:151730205delG	ENST00000601684.1	+	0	286																											AGAGGGTCCTGCTGGGAGATA	0.468													2	4	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:76539580delT	ENST00000429927.2	-	3	925	c.222delA	c.(220-222)aafs	p.K74fs	CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323													14	34	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83280734	83280735	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:83280734_83280735insC	ENST00000313899.7	-	3	625_626	c.348_349insG	c.(346-351)tatttcfs	p.Y116fs	HNRNPD_ENST00000353341.4_Frame_Shift_Ins_p.Y116fs|HNRNPD_ENST00000352301.4_Frame_Shift_Ins_p.Y97fs|HNRNPD_ENST00000543098.1_Frame_Shift_Ins_p.Y64fs|HNRNPD_ENST00000541060.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	116	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AATTTGGAAAAGTAGTCCTTCA	0.376													31	55	---	---	---	---					
NR2E1	7101	broad.mit.edu	37	6	108508599	108508599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:108508599delA	ENST00000368986.4	+	9	1798	c.1090delA	c.(1090-1092)aafs	p.K365fs	NR2E1_ENST00000368983.3_Frame_Shift_Del_p.K402fs	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	365	Required for transcriptional repression (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGTGTTTTTCAAAAAAACCAT	0.408													45	137	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	238	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30749849	30749850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:30749849_30749850insA	ENST00000262518.4	+	34	8873_8874	c.8488_8489insA	c.(8488-8490)catfs	p.H2830fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.H2672fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.H2768fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2830	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCGCCGTCACATTGAGCTG	0.644													18	84	---	---	---	---					
KSR1	8844	broad.mit.edu	37	17	25936285	25936286	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:25936285_25936286delTA	ENST00000398988.3	+	18	2255_2256	c.1810_1811delTA	c.(1810-1812)tfs	p.Y604fs	KSR1_ENST00000509603.2_Frame_Shift_Del_p.Y719fs|KSR1_ENST00000319524.6_Frame_Shift_Del_p.Y741fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.Y604fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	739					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAACGTCTTCTATGACAACGGC	0.525													38	114	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27613086	27613087	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:27613086_27613087delTC	ENST00000225388.4	-	2	1983_1984	c.1925_1926delGA	c.(1924-1926)afs	p.R642fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	642						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCTGGTATCTCTGTTCTTT	0.426													9	39	---	---	---	---					
IRF2BP1	26145	broad.mit.edu	37	19	46388435	46388436	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46388435_46388436delTC	ENST00000302165.3	-	1	940_941	c.597_598delGA	c.(595-600)gaagfs	p.EK199fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCTGCTGCTTCTCTTTCTCGA	0.644													55	158	---	---	---	---					
KLK4	9622	broad.mit.edu	37	19	51413946	51413946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:51413946delG	ENST00000324041.1	-	1	48	c.49delC	c.(49-51)ttfs	p.L17fs		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	17					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGACACCAAGGATGAGGTAC	0.552													2	4	---	---	---	---					
NINL	22981	broad.mit.edu	37	20	25460831	25460831	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:25460831delT	ENST00000278886.6	-	15	1956	c.1883delA	c.(1882-1884)ctfs	p.H628fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.H628fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	628					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCTTGGTAATGCTCCTTTAC	0.532													16	44	---	---	---	---					
WDTC1	23038	broad.mit.edu	37	1	27614251	27614252	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:27614251_27614252insAT	ENST00000319394.3	+	6	913_914	c.378_379insAT	c.(376-381)actccafs	p.P127fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.P127fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	127							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAAAGGAGACCATCCACATGTT	0.564													11	21	---	---	---	---					
RP11-98D18.15	0	broad.mit.edu	37	1	151730205	151730205	+	RNA	DEL	G	G	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr1:151730205delG	ENST00000601684.1	+	0	286																											AGAGGGTCCTGCTGGGAGATA	0.468													2	4	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:76539580delT	ENST00000429927.2	-	3	925	c.222delA	c.(220-222)aafs	p.K74fs	CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323													14	34	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83280734	83280735	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr4:83280734_83280735insC	ENST00000313899.7	-	3	625_626	c.348_349insG	c.(346-351)tatttcfs	p.Y116fs	HNRNPD_ENST00000543098.1_Frame_Shift_Ins_p.Y64fs|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Frame_Shift_Ins_p.Y116fs|HNRNPD_ENST00000352301.4_Frame_Shift_Ins_p.Y97fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	116	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AATTTGGAAAAGTAGTCCTTCA	0.376													31	55	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546140	3546141	+	RNA	INS	-	-	A	rs74546027		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr16:3546140_3546141insA	ENST00000574423.2	+	0	111																											gactccgtctcaaaaaaaaaaa	0.559													2	4	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30749849	30749850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr16:30749849_30749850insA	ENST00000262518.4	+	34	8873_8874	c.8488_8489insA	c.(8488-8490)catfs	p.H2830fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.H2768fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.H2672fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2830	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCGCCGTCACATTGAGCTG	0.644													18	84	---	---	---	---					
KSR1	8844	broad.mit.edu	37	17	25936285	25936286	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:25936285_25936286delTA	ENST00000398988.3	+	18	2255_2256	c.1810_1811delTA	c.(1810-1812)tfs	p.Y604fs	KSR1_ENST00000319524.6_Frame_Shift_Del_p.Y741fs|KSR1_ENST00000509603.2_Frame_Shift_Del_p.Y719fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.Y604fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	739					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAACGTCTTCTATGACAACGGC	0.525													38	114	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27613086	27613087	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr17:27613086_27613087delTC	ENST00000225388.4	-	2	1983_1984	c.1925_1926delGA	c.(1924-1926)afs	p.R642fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	642						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCTGGTATCTCTGTTCTTT	0.426													9	39	---	---	---	---					
IRF2BP1	26145	broad.mit.edu	37	19	46388435	46388436	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr19:46388435_46388436delTC	ENST00000302165.3	-	1	940_941	c.597_598delGA	c.(595-600)gaagfs	p.EK199fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCTGCTGCTTCTCTTTCTCGA	0.644													55	158	---	---	---	---					
NINL	22981	broad.mit.edu	37	20	25460831	25460831	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172e7b30-829e-40b2-976e-4971cd1724a9	450dc2ac-7819-416e-94ad-5017cf537354	g.chr20:25460831delT	ENST00000278886.6	-	15	1956	c.1883delA	c.(1882-1884)ctfs	p.H628fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.H628fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	628					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCTTGGTAATGCTCCTTTAC	0.532													16	44	---	---	---	---					
