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
GCC2	9648	broad.mit.edu	37	2	109087033	109087033	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr2:109087033C>T	ENST00000309863.6	+	6	1962	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	416					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAGTTTTGCTATACTGTAG	0.294000													40	46					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763263	43763263	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:43763263G>A	ENST00000418820.2	-	3	553	c.455C>T	c.(454-456)aCc>aTc	p.T152I	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.T152I|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.T245I			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	152	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTGTTGATGGTGATGTAGGG	0.473000													7	144					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37850211	37850211	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr4:37850211G>T	ENST00000381967.4	+	11	1451	c.1351G>T	c.(1351-1353)Gct>Tct	p.A451S	PGM2_ENST00000537241.1_Missense_Mutation_p.A291S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	451					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGCAGAGTTGGCTAGCTTCCT	0.403000													51	58					6.18754e-15	7.29663e-15	1	1	0
DPY19L3	147991	broad.mit.edu	37	19	32949393	32949393	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:32949393G>A	ENST00000342179.5	+	12	1515	c.1300G>A	c.(1300-1302)Gtt>Att	p.V434I	DPY19L3_ENST00000392250.2_Missense_Mutation_p.V434I|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.V434I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	434						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTAGCATTCGTTGTTGCCTT	0.358000													4	95					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194336	57194336	+	Silent	SNP	A	A	G			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr7:57194336A>G	ENST00000331162.4	-	3	399	c.129T>C	c.(127-129)gaT>gaC	p.D43D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTAACATCACATCTCTATATA	0.388000													24	178					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													3	17					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804661	115804661	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr10:115804661A>T	ENST00000369295.2	+	1	856	c.770A>T	c.(769-771)aAg>aTg	p.K257M		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	257					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CAGGTGAAGAAGATCGACAGC	0.721000													7	16					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406604	140406604	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:140406604C>T	ENST00000286349.3	+	3	1271	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	360						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATTCAACATCTTAAAAAACA	0.373000													20	29					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42997998	42997998	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr22:42997998A>C	ENST00000252115.5	-	3	619	c.515T>G	c.(514-516)gTc>gGc	p.V172G	POLDIP3_ENST00000451060.2_Missense_Mutation_p.V16G|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	172					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GTGGTTATTGACAACATTGAT	0.493000													45	58					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247153	149247153	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr2:149247153G>A	ENST00000407073.1	+	12	4250	c.3253G>A	c.(3253-3255)Gta>Ata	p.V1085I	MBD5_ENST00000404807.1_Missense_Mutation_p.V1318I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1085						chromosome|nucleus	chromatin binding|DNA binding	p.V1085I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGATGCTTCCGTAGATGCCAT	0.502000													29	50					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													6	45					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83328462	83328462	+	Splice_Site	SNP	C	C	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr15:83328462C>A	ENST00000261722.3	-	26	3306	c.3098_splice	c.e26-1	p.R1033_splice	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site_p.R1001_splice|AP3B2_ENST00000535359.1_Splice_Site_p.R1052_splice	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1033					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCCTGCAAACCTGAGGTGGG	0.592000													11	15					0.00829132	0.00842614	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176002375	176002375	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:176002375C>A	ENST00000510636.1	+	9	990	c.716C>A	c.(715-717)cCc>cAc	p.P239H	CDHR2_ENST00000261944.5_Missense_Mutation_p.P239H|CDHR2_ENST00000506348.1_Missense_Mutation_p.P239H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	239	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.P239H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCTTGACCCCCAGTTTGTC	0.632000													15	33					1.3612e-06	1.49255e-06	1	1	0
ZNF702P	79986	broad.mit.edu	37	19	53473589	53473589	+	RNA	SNP	T	T	G	rs144381936	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:53473589T>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GAGCTACAATTAAAGGCTTTG	0.333000													3	38					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772841	113772841	+	Missense_Mutation	SNP	G	G	A	rs121964929		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr13:113772841G>A	ENST00000375581.3	+	9	955	c.920G>A	c.(919-921)cGc>cAc	p.R307H	F7_ENST00000541084.1_Missense_Mutation_p.R238H|F7_ENST00000346342.3_Missense_Mutation_p.R285H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	307	Peptidase S1.		R -> C (in FA7D).|R -> H (in FA7D; Mie).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCGCTGCTCCGCCTGCACCAG	0.667000													23	24					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24146163	24146163	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:24146163C>A	ENST00000378491.4	+	4	878	c.577C>A	c.(577-579)Ctg>Atg	p.L193M		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	193					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCCTCTACTGGCAACCTG	0.483000													21	105					1.22574e-08	1.38034e-08	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	87					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4852119	4852119	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:4852119C>T	ENST00000221957.4	-	5	719	c.543G>A	c.(541-543)ttG>ttA	p.L181L	PLIN3_ENST00000585479.1_Silent_p.L181L|PLIN3_ENST00000592528.1_Silent_p.L169L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	181					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCATCTGGCCCAAGCGGGAGC	0.657000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	3					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	64					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158619724	158619724	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:158619724C>T	ENST00000368148.3	-	25	3671	c.3491G>A	c.(3490-3492)cGc>cAc	p.R1164H	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1164H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1164					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAACCCCAGCGGGAATTCAA	0.443000													14	23					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103598058	103598058	+	Missense_Mutation	SNP	G	G	A	rs140309001		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:103598058G>A	ENST00000560869.1	+	8	2020	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.G461S|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.G130S			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	461					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAAGAGCCACGGCTTTGACAC	0.632000													11	28					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909807	92909807	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:92909807G>A	ENST00000532405.1	+	7	872	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	SLC24A4_ENST00000393265.2_Missense_Mutation_p.V152M|SLC24A4_ENST00000531433.1_Missense_Mutation_p.V216M|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V199M|SLC24A4_ENST00000298877.1_Missense_Mutation_p.V199M			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	216						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTCTGTCATCGTGCTCATCGT	0.642000													20	46					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726846	32726846	+	Missense_Mutation	SNP	C	C	T	rs142243133	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:32726846C>T	ENST00000435145.2	-	3	488	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	143					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCGAGCAGACCAGCAGGTTG	0.552000													4	88					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403335	54403335	+	Silent	SNP	T	T	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr12:54403335T>C	ENST00000040584.4	+	1	504	c.267T>C	c.(265-267)taT>taC	p.Y89Y		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	89						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CCAAATTCTATGGCTACGAGG	0.567000													94	117					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	816150	816150	+	Silent	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:816150G>A	ENST00000566549.1	+	11	1404	c.987G>A	c.(985-987)gcG>gcA	p.A329A	MSLN_ENST00000563941.1_Silent_p.A329A|MSLN_ENST00000545450.2_Silent_p.A329A|MSLN_ENST00000382862.3_Silent_p.A329A			Q13421	MSLN_HUMAN	mesothelin	329					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCGTGGATGCGGCCCTGCTGG	0.582000													23	27					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206448	121206448	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:121206448G>T	ENST00000264233.5	-	16	5458	c.5330C>A	c.(5329-5331)cCt>cAt	p.P1777H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1777					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AATATCTGAAGGTGAGCCAAA	0.378000								DNA polymerases (catalytic subunits)					39	65					6.70999e-13	7.76619e-13	1	1	0
DSG4	147409	broad.mit.edu	37	18	28991109	28991109	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr18:28991109A>T	ENST00000359747.4	+	14	2139	c.2110A>T	c.(2110-2112)Acc>Tcc	p.T704S	DSG4_ENST00000308128.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	699					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGGTGGCACCGCAGACGG	0.517000													12	17					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54792354	54792354	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:54792354G>A	ENST00000306858.7	+	4	774	c.658G>A	c.(658-660)Ggg>Agg	p.G220R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	220										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCAAAAACAGGGGCAAAATT	0.328000													37	148					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119449158	119449158	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:119449158C>T	ENST00000273390.5	+	8	1029	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.R318W(1)									CTTGAATGCCCGGTGGTCTAA	0.438000													6	183					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36934779	36934779	+	Silent	SNP	G	G	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:36934779G>C	ENST00000373103.1	-	12	2101	c.1554C>G	c.(1552-1554)gtC>gtG	p.V518V	CSF3R_ENST00000338937.5_Silent_p.V518V|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Silent_p.V518V|CSF3R_ENST00000440588.2_Silent_p.V518V|CSF3R_ENST00000373106.1_Silent_p.V518V|CSF3R_ENST00000361632.4_Silent_p.V518V|CSF3R_ENST00000331941.5_Silent_p.V518V|CSF3R_ENST00000418048.2_Silent_p.V518V	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	518	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTAGGCATAGACATGCTGGG	0.512000													6	20					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6082607	6082607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr7:6082607C>A	ENST00000199389.6	-	8	894	c.748G>T	c.(748-750)Gag>Tag	p.E250*	EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.E126*|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	250	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GATGGCAACTCAATGGCAGCT	0.398000													21	48					2.89027e-11	3.31453e-11	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671518	49671518	+	Silent	SNP	A	A	G	rs13336762	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:49671518A>G	ENST00000561648.1	-	4	1598	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N	ZNF423_ENST00000563137.2_Silent_p.N455N|ZNF423_ENST00000567169.1_Silent_p.N398N|ZNF423_ENST00000562520.1_Silent_p.N455N|ZNF423_ENST00000562871.1_Silent_p.N455N|ZNF423_ENST00000262383.2_Silent_p.N515N|ZNF423_ENST00000535559.1_Silent_p.N398N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	515					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.N515N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGAAGAAAGCATTATTACCGT	0.582000													3	25					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103271360	103271360	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr9:103271360C>T	ENST00000374879.4	+	3	812	c.380C>T	c.(379-381)gCt>gTt	p.A127V	MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.G90G|TMEFF1_ENST00000334943.6_Missense_Mutation_p.A88V	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTCAGAAGGGCTGCTTGTAAG	0.363000													36	53					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879304	3879304	+	Silent	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr18:3879304G>A	ENST00000315677.3	-	4	1360	c.765C>T	c.(763-765)aaC>aaT	p.N255N	DLGAP1_ENST00000581527.1_Silent_p.N255N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N255N|DLGAP1_ENST00000515196.2_Silent_p.N255N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	255					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ACTTGACGTCGTTGTTGCTCC	0.667000													5	78					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43522967	43522967	+	Missense_Mutation	SNP	A	A	T	rs151073824	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:43522967A>T	ENST00000401740.1	-	3	767	c.664T>A	c.(664-666)Tca>Aca	p.S222T	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.S100T|PSG11_ENST00000320078.7_Missense_Mutation_p.S222T|PSG11_ENST00000306322.7_Missense_Mutation_p.S100T			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	222	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCACTCCCTGAGTTCCATATT	0.498000													7	203					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456820	25456820	+	RNA	SNP	G	G	A	rs28602751	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr15:25456820G>A	ENST00000424208.1	+	0	2451				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TCAGCCAGGTGCTCAGCCCCT	0.587000													4	58					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671146	99671146	+	Missense_Mutation	SNP	A	A	T	rs141776398	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr15:99671146A>T	ENST00000336292.6	+	5	2698	c.2578A>T	c.(2578-2580)Atc>Ttc	p.I860F	SYNM_ENST00000328642.7_Missense_Mutation_p.I860F|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.I575F	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	861	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAATCCACCATCAGGTACTC	0.572000													3	43					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269106	123269106	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr7:123269106C>T	ENST00000451558.1	+	12	1579	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	ASB15_ENST00000540573.1_Missense_Mutation_p.A353V|ASB15_ENST00000275699.3_Missense_Mutation_p.A353V|ASB15_ENST00000451215.1_Missense_Mutation_p.A353V|ASB15_ENST00000434204.1_Missense_Mutation_p.A353V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	353					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGAAGACTGCGCTGTATTTT	0.443000													51	193					0	0	1	0	0
GPX8	493869	broad.mit.edu	37	5	54460037	54460037	+	Silent	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:54460037G>A	ENST00000503787.1	+	3	696	c.621G>A	c.(619-621)gaG>gaA	p.E207E	GPX8_ENST00000515370.1_Silent_p.E156E|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	207					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AAAAGAAAGAGGATCTATGAG	0.408000													21	33					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930453	68930453	+	Missense_Mutation	SNP	G	G	A	rs141208409	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr4:68930453G>A	ENST00000356291.2	-	8	1024	c.965C>T	c.(964-966)cCa>cTa	p.P322L	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	322	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGTTTTAGGTGGCAACTTTAT	0.388000													4	69					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634539	70634539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:70634539G>A	ENST00000381269.2	-	2	1354	c.601C>T	c.(601-603)Cga>Tga	p.R201*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.R201*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	201					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGACTCGTAGATGCTTG	0.493000													20	33					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412112	65412112	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chrX:65412112A>G	ENST00000519389.1	+	7	1545	c.1366A>G	c.(1366-1368)Act>Gct	p.T456A	HEPH_ENST00000374727.3_Missense_Mutation_p.T405A|HEPH_ENST00000441993.2_Missense_Mutation_p.T405A|HEPH_ENST00000343002.2_Missense_Mutation_p.T402A|HEPH_ENST00000336279.5_Missense_Mutation_p.T135A|HEPH_ENST00000419594.1_Missense_Mutation_p.T405A			Q9BQS7	HEPH_HUMAN	hephaestin	402	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGATGGGAGTACTGGGAAGAA	0.493000													29	5					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724405	38724405	+	Missense_Mutation	SNP	T	T	C	rs140940981	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:38724405T>C	ENST00000342213.2	-	1	1169	c.823A>G	c.(823-825)Acg>Gcg	p.T275A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	275	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGAAGCCCGTAGCACATTCG	0.667000													71	252					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326680	64326680	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr11:64326680G>A	ENST00000301891.4	+	2	841	c.467G>A	c.(466-468)gGc>gAc	p.G156D	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G156D|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G156D	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	156					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	ATCCTGGTGGGCTCCTTTATC	0.602000													23	30					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619140	48619140	+	Splice_Site	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:48619140C>T	ENST00000328333.8	-	48	4828	c.4722_splice	c.e48+1	p.R1574_splice	COL7A1_ENST00000454817.1_Splice_Site_p.R1574_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1574	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACTTACCCGTTCCCCTTG	0.582000													36	72					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593986	16593986	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr17:16593986G>A	ENST00000443444.2	+	1	412	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G91D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G91D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G91D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G91D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G91D			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	91																	GCCCGGTCGGGCGACGTCCCT	0.642000													62	96					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840695	36840695	+	RNA	SNP	A	A	G	rs3742593	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:36840695A>G	ENST00000557188.1	+	0	326																											TCCCGGGACGATTCAGGGGCC	0.478000													27	75					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557294	157557294	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:157557294A>T	ENST00000271532.1	-	5	754	c.619T>A	c.(619-621)Tct>Act	p.S207T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	207	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGGTTTACAGAATTCCCCTCT	0.478000													67	236					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22375856	22375856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:22375856C>T	ENST00000397121.2	-	2	409	c.92G>A	c.(91-93)tGg>tAg	p.W31*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCATATTCCAGGGCTCTTT	0.418000													4	84					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716080	40716080	+	Missense_Mutation	SNP	C	C	T	rs143964295	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr17:40716080C>T	ENST00000393818.2	+	2	1258	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Missense_Mutation_p.P268S|COASY_ENST00000590958.1_Missense_Mutation_p.P297S|COASY_ENST00000421097.2_Missense_Mutation_p.P268S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	268	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGATGTCATCCCCCTGCTGGA	0.572000													4	42					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637033	129637033	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:129637033G>A	ENST00000421865.2	+	26	3911	c.3862G>A	c.(3862-3864)Gtc>Atc	p.V1288I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1288	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAGAATTATCGTCAGGCATAT	0.418000													11	273					0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560590	67560590	+	RNA	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr11:67560590C>T	ENST00000528089.1	-	0	1160																											AAGTTTTATCCGCTTTCCCAT	0.413000													3	40					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520088	101520088	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:101520088C>T	ENST00000422132.1	+	2	300	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	NXPE3_ENST00000273347.5_Missense_Mutation_p.H35Y|NXPE3_ENST00000477909.1_Missense_Mutation_p.H35Y|NXPE3_ENST00000491511.1_Missense_Mutation_p.H35Y					neurexophilin and PC-esterase domain family, member 3																		GTACTTGGACCATGAGACTGT	0.443000													56	77					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													5	124					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70335437	70335437	+	Silent	SNP	T	T	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr11:70335437T>C	ENST00000338508.4	-	31	2570	c.2571A>G	c.(2569-2571)ctA>ctG	p.L857L	SHANK2_ENST00000449833.2_Silent_p.L261L|SHANK2_ENST00000423696.2_Silent_p.L477L|SHANK2_ENST00000409161.1_Silent_p.L260L|SHANK2_ENST00000409530.1_3'UTR			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	477					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACTAACCTGATAGAAAGATTC	0.408000													37	68					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213835	9213835	+	Missense_Mutation	SNP	T	T	C	rs146597516		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:9213835T>C	ENST00000305456.2	-	1	147	c.148A>G	c.(148-150)Agc>Ggc	p.S50G		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGGAACAGGCTGAAAAGGACG	0.498000													3	43					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975184	7975184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:7975184G>T	ENST00000545011.1	+	4	564	c.499G>T	c.(499-501)Gag>Tag	p.E167*	MAP2K7_ENST00000397979.3_Nonsense_Mutation_p.E125*|MAP2K7_ENST00000397981.3_Nonsense_Mutation_p.E125*|MAP2K7_ENST00000397983.3_Nonsense_Mutation_p.E141*			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	125	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAACTTGGGCGAGATGGGCAG	0.672000													9	5					3.86212e-05	4.09123e-05	1	1	0
NUP188	23511	broad.mit.edu	37	9	131767758	131767758	+	Silent	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr9:131767758G>A	ENST00000372577.2	+	40	4707	c.4686G>A	c.(4684-4686)ctG>ctA	p.L1562L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1562					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCAAGACGCTGGCAGCCCTGC	0.582000													45	49					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432183	6432183	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr11:6432183A>G	ENST00000389906.2	-	2	494	c.395T>C	c.(394-396)cTa>cCa	p.L132P	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.L132P|APBB1_ENST00000299402.6_Missense_Mutation_p.L132P	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	132					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGTCCTCGTAGGCCTCGGTT	0.627000													73	82					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	49					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144828558	144828558	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:144828558T>C	ENST00000338347.4	+	14	1604	c.1604T>C	c.(1603-1605)aTg>aCg	p.M535T	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.M133T|NBPF9_ENST00000440491.2_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GGCGTGCTGATGGAAGTGGAA	0.463000													5	95					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573083	38573083	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:38573083G>T	ENST00000222345.6	+	3	1387	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	293					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCTCGGCGGCGGGGACACG	0.697000													8	3					0.00307968	0.003208	1	1	0
ACTR1B	10120	broad.mit.edu	37	2	98275439	98275439	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr2:98275439G>T	ENST00000289228.5	-	5	559	c.343C>A	c.(343-345)Ctc>Atc	p.L115I		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	115						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTCGGGTTGAGCGGGGCCTCC	0.582000													50	82					2.55665e-31	3.07289e-31	1	1	0
ORC1	4998	broad.mit.edu	37	1	52850385	52850385	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr1:52850385T>A	ENST00000371568.3	-	11	1810	c.1592A>T	c.(1591-1593)tAc>tTc	p.Y531F	ORC1_ENST00000371566.1_Missense_Mutation_p.Y531F	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	531	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCGGAGATGTACATGCACCT	0.522000													12	7					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49525207	49525207	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:49525207C>T	ENST00000561648.1	-	8	3887	c.3834G>A	c.(3832-3834)acG>acA	p.T1278T	ZNF423_ENST00000563137.2_Silent_p.T1218T|ZNF423_ENST00000567169.1_Silent_p.T1161T|ZNF423_ENST00000562520.1_Silent_p.T1218T|ZNF423_ENST00000562871.1_Silent_p.T1218T|ZNF423_ENST00000262383.2_Silent_p.T1278T|ZNF423_ENST00000535559.1_Silent_p.T1161T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1278					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTGGCTCATCGTGTGGTTCT	0.572000													49	6					0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1912900	1912900	+	Missense_Mutation	SNP	A	A	C	rs146212621	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:1912900A>C	ENST00000329478.2	+	2	1074	c.854A>C	c.(853-855)gAc>gCc	p.D285A	SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000602400.1_Missense_Mutation_p.D269A|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	269					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTAAACTGGACGCAGACGAG	0.721000													3	13					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299440	113299440	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr8:113299440G>A	ENST00000297405.5	-	58	9428	c.9184C>T	c.(9184-9186)Ccc>Tcc	p.P3062S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P3022S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2893S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2992S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3062	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATGGCCGGGAGTACCTGGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			68	43					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235926	23235926	+	Missense_Mutation	SNP	A	A	G	rs148602805	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:23235926A>G	ENST00000285848.5	+	1	196	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	OXA1L_ENST00000412791.1_Missense_Mutation_p.M6V|OXA1L_ENST00000604262.1_Missense_Mutation_p.M6V	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	6					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GATGGGACTAATGTGCGGACG	0.617000													7	207					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156819961	156819961	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:156819961C>T	ENST00000347377.6	+	31	4146	c.3715C>T	c.(3715-3717)Cgc>Tgc	p.R1239C	CYFIP2_ENST00000522463.1_Missense_Mutation_p.R1043C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R938C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1264C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1213C|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1239C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1164C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1264					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGCATGTGCGCTGCTTCCA	0.512000													31	38					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886820	55886820	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:55886820C>A	ENST00000521992.1	-	11	1478	c.1333G>T	c.(1333-1335)Gca>Tca	p.A445S	CES5A_ENST00000520435.1_Missense_Mutation_p.A386S|CES5A_ENST00000319165.9_Missense_Mutation_p.A416S|CES5A_ENST00000290567.9_Missense_Mutation_p.A416S|CES5A_ENST00000518005.1_Missense_Mutation_p.A310S|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	416						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTGATCAGTGCAGGGACCACA	0.507000													41	7					4.16155e-14	4.86162e-14	1	1	0
KDM5A	5927	broad.mit.edu	37	12	419030	419030	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr12:419030T>A	ENST00000399788.2	-	22	3679	c.3317A>T	c.(3316-3318)gAc>gTc	p.D1106V	KDM5A_ENST00000382815.4_Missense_Mutation_p.D1106V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1106					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGGCTCCAGGTCCAGATCCTT	0.438000			T	NUP98	AML								40	56					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541368	31541368	+	Silent	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:31541368G>A	ENST00000454783.1	+	4	774	c.516G>A	c.(514-516)gcG>gcA	p.A172A	LTA_ENST00000418386.2_Silent_p.A172A	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	172					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	p.A172A(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACGGGGCTGCGTTCCAGCTCA	0.597000													73	251					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108466321	108466321	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr10:108466321C>T	ENST00000263054.6	-	8	1222	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	SORCS1_ENST00000344440.6_Silent_p.P405P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	405						integral to membrane	neuropeptide receptor activity|protein binding	p.P405P(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGCATATTTCGGAAGCTTCA	0.458000													26	55					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	T	rs28931589		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:41266104G>T	ENST00000349496.5	+	3	381	c.101G>T	c.(100-102)gGa>gTa	p.G34V	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGACTCTGGAATCCATTCT	0.488000	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				22	23					1.87028e-06	2.03292e-06	1	1	0
MECOM	2122	broad.mit.edu	37	3	168807868	168807868	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:168807868A>T	ENST00000464456.1	-	13	3930	c.2730T>A	c.(2728-2730)agT>agA	p.S910R	MECOM_ENST00000468789.1_Missense_Mutation_p.S919R|MECOM_ENST00000494292.1_Missense_Mutation_p.S1098R|MECOM_ENST00000472280.1_Missense_Mutation_p.S920R|MECOM_ENST00000392736.3_Missense_Mutation_p.S919R|MECOM_ENST00000264674.3_Missense_Mutation_p.S984R|MECOM_ENST00000460814.1_Missense_Mutation_p.S910R|MECOM_ENST00000433243.2_Missense_Mutation_p.S920R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGTAAATTACTTGTCACTG	0.433000													67	83					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	RNA	SNP	A	A	G	rs6583272	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824																											CCTCAGGTGCAGATTGATGAG	0.473000													5	23					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13649593	13649593	+	Silent	SNP	C	C	T			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:13649593C>T	ENST00000404922.3	+	3	1457	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	FBLN2_ENST00000295760.7_Silent_p.C446C|FBLN2_ENST00000492059.1_Silent_p.C446C|FBLN2_ENST00000535798.1_Silent_p.C472C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	446	Anaphylatoxin-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACTTGCTGCGCAGCCGGAC	0.577000													3	3					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077012	41077012	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr22:41077012G>A	ENST00000249016.4	+	2	1045	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	MCHR1_ENST00000381433.2_Missense_Mutation_p.G117S|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	117					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TTCGGTGTTCGGCACCATCTG	0.572000													26	33					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911841	45911841	+	Silent	SNP	G	G	A	rs77680493	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:45911841G>A	ENST00000309424.3	+	3	1103	c.615G>A	c.(613-615)tcG>tcA	p.S205S	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.S207S	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	205					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CTTTGGGGTCGCCAGAAATGG	0.562000													3	40					0	0	1	0	0
LAMTOR4	389541	broad.mit.edu	37	7	99746599	99746599	+	Splice_Site	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr7:99746599G>A	ENST00000441173.1	+	1	38		c.e1+1		LAMTOR4_ENST00000341942.5_Splice_Site					late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																		GACTGCGATGGTGAGTGAGGA	0.667000													26	101					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786939	2786939	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr12:2786939G>A	ENST00000399655.1	+	41	5262	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1707Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1686Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1714Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1674Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1674Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1683Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1694Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1685Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1672Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1685Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1691Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1685Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1714					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTGAGATCCGACGGGCCATC	0.602000													3	26					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186915397	186915397	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:186915397A>C	ENST00000312295.4	+	1	124	c.94A>C	c.(94-96)Act>Cct	p.T32P	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	32					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCCTTCCCTCACTACTGACGA	0.527000													39	41					0	0	1	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45569815	45569815	+	RNA	SNP	A	A	G	rs2610367	by1000genomes	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr17:45569815A>G	ENST00000575291.1	-	0	21																											TTGAGGTATGAGGGCTGCCAT	0.602000													4	86					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105726276	105726276	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr6:105726276C>G	ENST00000369110.3	-	15	2068	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	626					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	tggatgtcatctgcttctggt	0.502000													14	35					0	0	1	0	0
TRAPPC1	58485	broad.mit.edu	37	17	7834411	7834411	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr17:7834411G>A	ENST00000303731.4	-	3	342	c.227C>T	c.(226-228)aCg>aTg	p.T76M	TRAPPC1_ENST00000540486.1_Missense_Mutation_p.T76M	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	76					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				CCCAGTGGGCGTCTCGTAGTA	0.532000													26	34					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177097	44177097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr4:44177097G>A	ENST00000360029.3	-	2	1415	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	378						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCTGTTGCCTGCTGGGCACTG	0.507000										HNSCC(17;0.042)			67	70					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19761486	19761486	+	Missense_Mutation	SNP	G	G	A	rs151176879	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr18:19761486G>A	ENST00000269216.3	+	4	1652	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	GATA6_ENST00000581694.1_Missense_Mutation_p.A459T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	459					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCGCAGAAACGCCGAGGGTGA	0.473000													4	50					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2259625	2259625	+	Missense_Mutation	SNP	G	G	A	rs9934277	byFrequency	TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr16:2259625G>A	ENST00000328540.3	-	5	1637	c.521C>T	c.(520-522)cCc>cTc	p.P174L	BRICD5_ENST00000562360.1_Missense_Mutation_p.P174L	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGCCTGGGCGGGGTCCACTTC	0.682000													4	95					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179311629	179311629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr3:179311629delG	ENST00000476781.1	-	5	486	c.457delC	c.(457-459)tafs	p.L153fs	MRPL47_ENST00000259038.2_Frame_Shift_Del_p.L133fs|MRPL47_ENST00000392659.2_Frame_Shift_Del_p.L43fs	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	153					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			AGAAGCCTTAGGGCATCTTCT	0.398													48	62	---	---	---	---					
RP11-434D9.2	0	broad.mit.edu	37	5	67151832	67151832	+	RNA	DEL	C	C	-	rs56979411		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:67151832delC	ENST00000514791.1	-	0	349																		p.0?(1)									ttttaaaattcaaaaaaaaaa	0.383													8	44	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr5:139422565_139422567delGCT	ENST00000541337.1	-	1	317_319	c.88_90delAGC	c.(88-90)del	p.S30del	NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			32	43	---	---	---	---					
MRPS31P5	100887750	broad.mit.edu	37	13	52764065	52764065	+	RNA	DEL	A	A	-			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr13:52764065delA	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							AAGATGCATTAAAAAAAATGA	0.303													2	4	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													8	100	---	---	---	---					
CELF5	60680	broad.mit.edu	37	19	3286004	3286006	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:3286004_3286006delGCA	ENST00000541430.2	+	10	1128_1130	c.1092_1094delGCA	c.(1090-1095)ctg>ct	p.LQ364del	CELF5_ENST00000292672.2_In_Frame_Del_p.LQ389del|CELF5_ENST00000588101.1_3'UTR	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	389					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGCCCCTCCTGCAGCAGCAGCAG	0.749													2	4	---	---	---	---					
CTD-2620I22.1	0	broad.mit.edu	37	19	53470096	53470105	+	RNA	DEL	TTTTTTTTTT	TTTTTTTTTT	-	rs79276462		TCGA-97-8171-01A-11D-2284-08	TCGA-97-8171-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa2c3620-7e82-4b12-b135-87986f0f2890	843a882c-c77b-4931-b48e-31307ca89b80	g.chr19:53470096_53470105delTTTTTTTTTT	ENST00000600068.1	-	0	489																											GCTTGACATCtttttttttttttttttttt	0.410													2	4	---	---	---	---					
