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
CNTN5	53942	broad.mit.edu	37	11	100211307	100211307	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:100211307T>A	ENST00000524871.1	+	22	3133	c.2843T>A	c.(2842-2844)tTc>tAc	p.F948Y	CNTN5_ENST00000528682.1_Missense_Mutation_p.F948Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.F948Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.F874Y|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	948	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTATATCACTTCACAGTGAGG	0.438000													9	114					0	0	0.307466	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	RNA	SNP	T	T	A	rs28687450	by1000genomes	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:16958833T>A	ENST00000412962.1	-	0	74																											TCTGCTTCTGTAGACGCTTCA	0.587000													5	12					0	0	0.248553	0	0
RNF144A	9781	broad.mit.edu	37	2	7164554	7164554	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:7164554C>T	ENST00000320892.6	+	7	1006	c.564C>T	c.(562-564)tgC>tgT	p.C188C	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	188						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCCCCAAGTGCAAAGTCTACA	0.562000													6	56					0	0	0.217242	0	0
RERE	473	broad.mit.edu	37	1	8416207	8416207	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:8416207A>C	ENST00000337907.3	-	22	5073	c.4439T>G	c.(4438-4440)cTt>cGt	p.L1480R	RERE_ENST00000400908.2_Missense_Mutation_p.L1480R|RERE_ENST00000377464.1_Missense_Mutation_p.L1212R|RERE_ENST00000476556.1_Missense_Mutation_p.L926R|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1480	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGCTGTCCAAGCAGAGGGTT	0.677000													8	52					0	0	0.278610	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						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)		GAAGGGCGCGCGATAGCTCAA	0.647000													17	95					0	0	0.539581	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16257930	16257930	+	RNA	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:16257930G>C	ENST00000570786.1	+	0	285				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						ATTCTCTCTAGTCAAAACTTC	0.388000													4	35					0	0	0.184627	0	0
HTR3C	170572	broad.mit.edu	37	3	183772675	183772675	+	Splice_Site	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:183772675G>A	ENST00000318351.1	+	2	268	c.234_splice	c.e2+1	p.V78_splice		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	78						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCCTGGGAGTGGTGAGACTTA	0.532000													25	59					0	0	0.681144	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18586399	18586399	+	RNA	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:18586399T>A	ENST00000546162.2	+	0	602					NR_003569.1																						AGTCCAGTCATCTGGAGTGCT	0.602000													3	8					0	0	0.150653	0	0
VWF	7450	broad.mit.edu	37	12	6145657	6145657	+	Splice_Site	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:6145657C>T	ENST00000261405.5	-	19	2697	c.2442_splice	c.e19-1	p.V815_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	815	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCATGCCGGACCTAAGAGAAA	0.537000													5	95					0	0	0.184627	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455274	110455274	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:110455274T>G	ENST00000378402.5	+	36	4597	c.4493T>G	c.(4492-4494)gTt>gGt	p.V1498G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1498					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCATTAATGTTTTACCAGCT	0.413000										HNSCC(38;0.096)			24	655					0	0	0.639603	0	0
REG1P	5969	broad.mit.edu	37	2	79363907	79363907	+	RNA	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:79363907C>G	ENST00000444841.1	-	0	431																											GAAGATGCAGCAGACTGATCC	0.488000													10	20					0	0	0.387290	0	0
ZNF449	203523	broad.mit.edu	37	X	134494331	134494331	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chrX:134494331G>C	ENST00000339249.4	+	5	1027	c.887G>C	c.(886-888)gGa>gCa	p.G296A		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	296					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACTCTGGGAGAGACACCT	0.463000													25	66					0	0	0.654019	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	rs58741481	byFrequency	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:8841802C>T	ENST00000324060.2	+	1	487	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	138			R -> C (in dbSNP:rs58741481).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557000													18	116					0	0	0.608945	0	0
UFL1	23376	broad.mit.edu	37	6	97000501	97000501	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:97000501C>T	ENST00000369278.4	+	18	2195	c.2129C>T	c.(2128-2130)cCa>cTa	p.P710L		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	710					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AGATGTGTCCCACAGATCATT	0.383000													35	112					0	0	0.779181	0	0
SLIT3	6586	broad.mit.edu	37	5	168233477	168233477	+	Silent	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:168233477G>T	ENST00000519560.1	-	9	1328	c.909C>A	c.(907-909)gcC>gcA	p.A303A	SLIT3_ENST00000332966.8_Silent_p.A303A|SLIT3_ENST00000404867.3_Silent_p.A303A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	303	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGCAAGTTGGCAGGAATCT	0.577000													36	241					3.38236e-24	4.33597e-24	0.827153	1	0
AHNAK	79026	broad.mit.edu	37	11	62296526	62296526	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:62296526A>G	ENST00000378024.4	-	5	5637	c.5363T>C	c.(5362-5364)tTg>tCg	p.L1788S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1788					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCAAATTCAAGTCCACATC	0.453000													4	227					0	0	0.150653	0	0
KRT75	9119	broad.mit.edu	37	12	52824482	52824482	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:52824482G>T	ENST00000252245.5	-	5	1098	c.878C>A	c.(877-879)tCc>tAc	p.S293Y		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	293	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCAACTGGGACAGCTCCTG	0.507000													23	78					1.17739e-12	1.41579e-12	0.693898	1	0
USP34	9736	broad.mit.edu	37	2	61577741	61577741	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:61577741G>A	ENST00000398571.2	-	11	1415	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	447					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTGAGACCAGATTAAGTAGA	0.348000													4	88					0	0	0.184627	0	0
NXF1	10482	broad.mit.edu	37	11	62571337	62571337	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:62571337G>A	ENST00000531709.2	-	2	255	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	NXF1_ENST00000294172.2_Missense_Mutation_p.R48W|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000439713.2_Missense_Mutation_p.R48W|NXF1_ENST00000532297.1_Missense_Mutation_p.R48W	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	48	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.R48W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGGAAGACCGAATACCAGAA	0.517000													4	233					0	0	0.217242	0	0
RBM12B	389677	broad.mit.edu	37	8	94745902	94745902	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:94745902G>A	ENST00000399300.2	-	3	2950	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S	RBM12B_ENST00000517700.1_Missense_Mutation_p.P793S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	913							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTGGATCAGGCATAAATCTC	0.363000													5	468					0	0	0.184627	0	0
ENPP7	339221	broad.mit.edu	37	17	77709208	77709208	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:77709208G>A	ENST00000328313.5	+	3	987	c.766G>A	c.(766-768)Gct>Act	p.A256T		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	256					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACAAACGGGCTGGCGACCT	0.592000													3	34					0	0	0.115264	0	0
SERPINA3	12	broad.mit.edu	37	14	95081053	95081053	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:95081053A>G	ENST00000553947.1	+	5	1238	c.350A>G	c.(349-351)cAt>cGt	p.H117R	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.H92R|SERPINA3_ENST00000393080.4_Missense_Mutation_p.H92R|SERPINA3_ENST00000393078.3_Missense_Mutation_p.H92R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	92					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGGGGGCCCATAATACCACC	0.542000													44	135					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13868090	13868090	+	Silent	SNP	G	G	A	rs140336904		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:13868090G>A	ENST00000265104.4	-	25	3950	c.3846C>T	c.(3844-3846)gcC>gcT	p.A1282A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1282	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1282A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTAAGCAGGGCATAAGATT	0.383000									Kartagener syndrome				18	46					0	0	0.520397	0	0
ABCA13	154664	broad.mit.edu	37	7	48318356	48318356	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:48318356T>C	ENST00000435803.1	+	18	7589	c.7565T>C	c.(7564-7566)aTt>aCt	p.I2522T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2522					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGACTCCATTGTGAAACTT	0.423000													45	346					0	0	0.859065	0	0
TMEM202	338949	broad.mit.edu	37	15	72700151	72700151	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:72700151G>T	ENST00000341689.3	+	5	793	c.739G>T	c.(739-741)Gct>Tct	p.A247S	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	247						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGTATCACCTGCTAAAGATGA	0.458000													44	76					1.48646e-12	1.78008e-12	0.853193	1	0
MANBA	4126	broad.mit.edu	37	4	103610763	103610763	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:103610763C>G	ENST00000226578.4	-	7	1027	c.928G>C	c.(928-930)Gat>Cat	p.D310H	MANBA_ENST00000505239.1_Missense_Mutation_p.D253H	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	310					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AAGCCTCCATCCAGTTCAAAA	0.284000													4	230					0	0	0.248553	0	0
OR8U1	219417	broad.mit.edu	37	11	56143191	56143191	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:56143191T>G	ENST00000302270.1	+	1	92	c.92T>G	c.(91-93)tTc>tGc	p.F31C		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTTGTGCTATTCTTATCCATC	0.448000													38	881					0	0	0.819951	0	0
ZFP14	57677	broad.mit.edu	37	19	36831147	36831147	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:36831147C>G	ENST00000270001.7	-	5	1696	c.1581G>C	c.(1579-1581)caG>caC	p.Q527H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TATGAATCTTCTGATGCTGAG	0.353000													9	87					0	0	0.335167	0	0
TTN	7273	broad.mit.edu	37	2	179393630	179393630	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:179393630C>A	ENST00000589042.1	-	360	107072	c.106848G>T	c.(106846-106848)atG>atT	p.M35616I	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M26551I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M26676I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M33975I|TTN_ENST00000342992.6_Missense_Mutation_p.M33048I|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M26743I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33975							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTTTATGCTCATCTGAGTAG	0.423000													11	143					0.000219431	0.000230522	0.457914	1	0
CD180	4064	broad.mit.edu	37	5	66492427	66492427	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:66492427A>G	ENST00000256447.4	-	1	200	c.43T>C	c.(43-45)Tct>Cct	p.S15P		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	15					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGCCGGCAGAAAACAGCACC	0.453000													33	228					0	0	0.834066	0	0
FOXF2	2295	broad.mit.edu	37	6	1390695	1390695	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:1390695C>T	ENST00000259806.1	+	1	627	c.513C>T	c.(511-513)ggC>ggT	p.G171G		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	171					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCGGCAAGGGCCACTACTGGA	0.677000													19	89					0	0	0.608945	0	0
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:51400017G>A	ENST00000266037.9	+	49	5228	c.5205G>A	c.(5203-5205)tcG>tcA	p.S1735S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTCCTCGTCCCAGGCAA	0.557000													14	59					0	0	0.479597	0	0
KIF27	55582	broad.mit.edu	37	9	86452349	86452349	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:86452349G>C	ENST00000297814.2	-	18	3916	c.3773C>G	c.(3772-3774)tCa>tGa	p.S1258*	RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Nonsense_Mutation_p.S1192*|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000334204.2_Nonsense_Mutation_p.S1161*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1258					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAATTCTTCTGAAAGCATGCC	0.388000													3	128					0	0	0.184627	0	0
PABPC3	5042	broad.mit.edu	37	13	25670399	25670399	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr13:25670399C>T	ENST00000281589.3	+	1	100	c.63C>T	c.(61-63)gaC>gaT	p.D21D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	21	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCACCCCGACGTGACTGAGG	0.657000													4	89					0	0	0.150653	0	0
GPR156	165829	broad.mit.edu	37	3	119905545	119905545	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:119905545T>C	ENST00000464295.1	-	6	1005	c.560A>G	c.(559-561)gAt>gGt	p.D187G	GPR156_ENST00000461057.1_Missense_Mutation_p.D187G|GPR156_ENST00000315843.3_Missense_Mutation_p.D187G			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	187						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CTGGATGGGATCAGTCAGCAC	0.517000													21	219					0	0	0.608945	0	0
OR4C46	119749	broad.mit.edu	37	11	51515552	51515552	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:51515552C>G	ENST00000328188.1	+	1	271	c.271C>G	c.(271-273)Cta>Gta	p.L91V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAAGGCCATCCTATTCAATGG	0.463000													37	253					0	0	0.796494	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032170	46032170	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr21:46032170C>T	ENST00000334662.2	+	1	175	c.153C>T	c.(151-153)tgC>tgT	p.C51C	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	51	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AAAGCTGCTGCGAGCCCCGCT	0.672000													51	112					0	0	0.870114	0	0
ZNF532	55205	broad.mit.edu	37	18	56646352	56646352	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:56646352G>A	ENST00000336078.4	+	9	3992	c.3216G>A	c.(3214-3216)cgG>cgA	p.R1072R	ZNF532_ENST00000591230.1_Silent_p.R1072R|ZNF532_ENST00000591808.1_Silent_p.R1072R|ZNF532_ENST00000591083.1_Silent_p.R1072R|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Silent_p.R1072R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCCTGTGCCGGCACAACCGGA	0.532000													5	236					0	0	0.184627	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716951	75716951	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:75716951G>A	ENST00000370855.5	-	7	402	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	SLC44A5_ENST00000370859.3_Silent_p.L97L|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	97						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCGTAACAGGTTAAAGTAA	0.428000													8	120					0	0	0.307466	0	0
NAV3	89795	broad.mit.edu	37	12	78531076	78531076	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:78531076G>T	ENST00000397909.2	+	19	4734	c.4561G>T	c.(4561-4563)Gcc>Tcc	p.A1521S	NAV3_ENST00000228327.6_Missense_Mutation_p.A1521S|NAV3_ENST00000536525.2_Missense_Mutation_p.A1521S|NAV3_ENST00000266692.7_Missense_Mutation_p.A1344S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1521	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGTGGGAGTGCCACTTCTCT	0.517000										HNSCC(70;0.22)			22	94					2.41591e-17	2.96637e-17	0.681144	1	0
OR2V2	285659	broad.mit.edu	37	5	180582009	180582009	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:180582009A>G	ENST00000328275.1	+	1	67	c.67A>G	c.(67-69)Act>Gct	p.T23A		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCACAGTACTGCTGACCT	0.532000													43	353					0	0	0.870114	0	0
SVEP1	79987	broad.mit.edu	37	9	113163144	113163144	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:113163144T>C	ENST00000401783.2	-	40	10148	c.9812A>G	c.(9811-9813)tAt>tGt	p.Y3271C	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y3248C|SVEP1_ENST00000297826.5_Missense_Mutation_p.Y1197C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3271	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTAGTTCATAGCCAGGCTC	0.353000													15	32					0	0	0.479597	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939111	67939111	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:67939111T>C	ENST00000304363.4	-	7	1072	c.719A>G	c.(718-720)aAc>aGc	p.N240S	SUV420H1_ENST00000401547.2_Missense_Mutation_p.N240S|SUV420H1_ENST00000405515.1_Missense_Mutation_p.N240S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.N217S|SUV420H1_ENST00000402789.1_Missense_Mutation_p.N240S	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	240	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGTAGCATGTTCTCCTCAAT	0.378000													9	84					0	0	0.335167	0	0
IFNAR1	3454	broad.mit.edu	37	21	34721557	34721557	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr21:34721557T>G	ENST00000270139.3	+	7	1101	c.949T>G	c.(949-951)Ttt>Gtt	p.F317V	IFNAR1_ENST00000416947.2_Missense_Mutation_p.F248V|IFNAR1_ENST00000442357.2_Missense_Mutation_p.F317V	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	317	Fibronectin type-III 2.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TAACACATCTTTTTGGTCTGA	0.343000													4	112					0	0	0.150653	0	0
UNC5D	137970	broad.mit.edu	37	8	35606141	35606141	+	Silent	SNP	G	G	A	rs142826516	byFrequency	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:35606141G>A	ENST00000287272.2	+	11	1676	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	UNC5D_ENST00000420357.1_Silent_p.P554P|UNC5D_ENST00000416672.1_Silent_p.P626P|UNC5D_ENST00000404895.2_Silent_p.P621P|UNC5D_ENST00000449677.1_Silent_p.P197P|UNC5D_ENST00000453357.2_Silent_p.P616P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	621	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGACCATCCCGCACTGTGCAG	0.498000													6	465					0	0	0.217242	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293388	110293388	+	Missense_Mutation	SNP	G	G	A	rs145677992	by1000genomes	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:110293388G>A	ENST00000369805.3	-	18	1896	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.T555M|EPS8L3_ENST00000361852.4_Missense_Mutation_p.T525M	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	555						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGCTCCCCGTCAGGGACCC	0.597000													23	48					0	0	0.654019	0	0
TRIM23	373	broad.mit.edu	37	5	64920031	64920031	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:64920031G>C	ENST00000231524.9	-	1	442	c.71C>G	c.(70-72)gCt>gGt	p.A24G	TRIM23_ENST00000381018.3_Missense_Mutation_p.A24G|TRIM23_ENST00000274327.7_Missense_Mutation_p.A24G	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	24					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTTCACTACAGCTGTCCCCCG	0.642000													4	32					0	0	0.150653	0	0
APBB2	323	broad.mit.edu	37	4	40936703	40936703	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:40936703G>A	ENST00000295974.8	-	9	1747	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	APBB2_ENST00000506352.1_Missense_Mutation_p.A352V|APBB2_ENST00000513140.1_Missense_Mutation_p.A352V|APBB2_ENST00000508593.1_Missense_Mutation_p.A374V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	373					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTAACAGTGGCTGCATGCAA	0.448000													3	36					0	0	0.184627	0	0
C10orf11	83938	broad.mit.edu	37	10	77795795	77795795	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:77795795G>A	ENST00000372499.1	+	2	292	c.77G>A	c.(76-78)aGc>aAc	p.S26N	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	26										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GCATTCAGGAGCCTGGAGGAA	0.488000											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	275					0	0	0.667858	0	0
NKAPL	222698	broad.mit.edu	37	6	28227729	28227729	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:28227729T>A	ENST00000343684.3	+	1	632	c.580T>A	c.(580-582)Tct>Act	p.S194T		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	194	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATAAGTCGTCTAAAAGAAA	0.358000													17	80					0	0	0.500413	0	0
SMOC1	64093	broad.mit.edu	37	14	70420144	70420144	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:70420144C>T	ENST00000381280.4	+	3	526	c.273C>T	c.(271-273)ggC>ggT	p.G91G	SMOC1_ENST00000361956.3_Silent_p.G91G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	91					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGATGCTGGCCAGAGCAAGT	0.552000													58	312					0	0	0.870114	0	0
HEATR5A	25938	broad.mit.edu	37	14	31765218	31765218	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:31765218G>T	ENST00000543095.2	-	34	5700	c.5516C>A	c.(5515-5517)aCa>aAa	p.T1839K	HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758K|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546K|HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1833K|RP11-596D21.1_ENST00000551799.1_RNA	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1833							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348000													13	102					3.27435e-08	3.69317e-08	0.457914	1	0
ZRANB1	54764	broad.mit.edu	37	10	126662228	126662228	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:126662228C>T	ENST00000359653.4	+	4	1542	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	391					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGAAGATTTGCCCCCAACAGT	0.294000													5	266					0	0	0.248553	0	0
MED10	84246	broad.mit.edu	37	5	6372635	6372635	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:6372635T>C	ENST00000255764.3	-	4	499	c.389A>G	c.(388-390)gAg>gGg	p.E130G		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CGGGTGATCCTCCCCCCGGAT	0.498000													4	142					0	0	0.184627	0	0
CCL23	6368	broad.mit.edu	37	17	34340259	34340259	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:34340259C>T	ENST00000293280.2	-	4	462	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	CCL23_ENST00000591423.1_Missense_Mutation_p.R114Q	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	114					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGTCTTGATCCGTGTGTCCAG	0.468000													20	69					0	0	0.624587	0	0
VCL	7414	broad.mit.edu	37	10	75871802	75871802	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:75871802C>T	ENST00000211998.4	+	19	2975	c.2881C>T	c.(2881-2883)Ccg>Tcg	p.P961S	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	961	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATCCAATCAGCCGGTCAACCA	0.577000													4	125					0	0	0.150653	0	0
CILP	8483	broad.mit.edu	37	15	65489854	65489854	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:65489854A>T	ENST00000261883.4	-	9	2936	c.2770T>A	c.(2770-2772)Tac>Aac	p.Y924N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	924					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACTGTGTTGTAGTCATATCGA	0.532000													54	91					0	0	0.870114	0	0
NLRC5	84166	broad.mit.edu	37	16	57063915	57063915	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:57063915G>A	ENST00000436936.1	+	10	2561	c.2336G>A	c.(2335-2337)aGc>aAc	p.S779N	NLRC5_ENST00000262510.6_Missense_Mutation_p.S779N|NLRC5_ENST00000308149.7_Missense_Mutation_p.S779N|NLRC5_ENST00000539144.1_Missense_Mutation_p.S779N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	779					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCCTGAGCAGCAACAGCATC	0.582000													3	88					0	0	0.115264	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45258349	45258349	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr22:45258349G>A	ENST00000517296.3	+	17	1806	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L	ARHGAP8_ENST00000389773.5_Silent_p.L514L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L523L|ARHGAP8_ENST00000389774.2_Silent_p.L423L|ARHGAP8_ENST00000336963.4_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L602L|ARHGAP8_ENST00000356099.6_Silent_p.L392L					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGCACGGCCTGGCACCATGGG	0.622000													6	46					0	0	0.217242	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818276	200818276	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:200818276G>C	ENST00000358823.2	+	11	2649	c.2379G>C	c.(2377-2379)aaG>aaC	p.K793N	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K804N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K777N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	804						cytoplasm|microtubule	protein binding										TAGTGAAAAAGAAAGGGGATG	0.428000													28	210					0	0	0.779181	0	0
C4orf21	55345	broad.mit.edu	37	4	113533734	113533734	+	Silent	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:113533734T>G	ENST00000505019.1	-	7	2738	c.2613A>C	c.(2611-2613)ccA>ccC	p.P871P	C4orf21_ENST00000309071.5_Silent_p.P871P|C4orf21_ENST00000445203.2_Silent_p.P840P	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	871										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGTAATAAATGGTTTCCTCA	0.289000													6	67					0	0	0.278610	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190008	58190008	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:58190008A>G	ENST00000318203.5	+	5	1734	c.1037A>G	c.(1036-1038)cAa>cGa	p.Q346R		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	346					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCGAGTGTCAAAAAGGCTTC	0.438000													19	72					0	0	0.575678	0	0
THEG	51298	broad.mit.edu	37	19	367181	367181	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:367181G>C	ENST00000342640.4	-	7	839	c.797C>G	c.(796-798)tCg>tGg	p.S266W	THEG_ENST00000346878.2_Missense_Mutation_p.S242W	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	266					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGGATCCGCGAGCTGGGGAC	0.577000													3	30					0	0	0.150653	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167446105	167446105	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:167446105G>C	ENST00000366847.3	+	11	1234	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.D315H	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	335					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGGAGAAGATGATGACTATGT	0.274000			T	FGFR1	"""MPD, NHL"""								4	189					0	0	0.184627	0	0
ZNF540	163255	broad.mit.edu	37	19	38102901	38102901	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:38102901G>C	ENST00000592533.1	+	5	1052	c.720G>C	c.(718-720)gaG>gaC	p.E240D	ZNF540_ENST00000316433.4_Missense_Mutation_p.E240D|ZNF540_ENST00000343599.5_Missense_Mutation_p.E240D|ZNF540_ENST00000589117.1_Missense_Mutation_p.E208D	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTGGTGAGAAACCCTATG	0.353000													5	57					0	0	0.217242	0	0
MYO19	80179	broad.mit.edu	37	17	34861146	34861146	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:34861146A>G	ENST00000431794.3	-	19	2417	c.1895T>C	c.(1894-1896)cTc>cCc	p.L632P	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	632	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCCTCTTGGAGAAAGGTCTG	0.582000													3	40					0	0	0.150653	0	0
OSBP2	23762	broad.mit.edu	37	22	31302178	31302178	+	Silent	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr22:31302178C>A	ENST00000382310.3	+	12	2619	c.2583C>A	c.(2581-2583)ccC>ccA	p.P861P	OSBP2_ENST00000437268.2_Intron|OSBP2_ENST00000535268.1_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Intron|OSBP2_ENST00000401475.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000332585.6_Intron			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTGCCTGCCCAGCAGAGAAG	0.682000													12	66					6.94344e-10	8.04997e-10	0.539581	1	0
STX1B	112755	broad.mit.edu	37	16	31008314	31008314	+	Silent	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:31008314G>T	ENST00000215095.5	-	6	652	c.421C>A	c.(421-423)Cgg>Agg	p.R141R	STX1B_ENST00000565419.1_Silent_p.R141R	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	141					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CAGCGGTCCCGGTACTTGGAC	0.637000													5	44					0.0581538	0.0587595	0.335167	1	0
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542000													46	302					0	0	0.870114	0	0
PTPN11	5781	broad.mit.edu	37	12	112939963	112939963	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:112939963G>C	ENST00000351677.2	+	14	1813	c.1615G>C	c.(1615-1617)Ggg>Cgg	p.G539R		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	543				S -> R (in Ref. 3; BAA02740).	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAAGAGGAAAGGGCACGAATA	0.433000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				48	124					0	0	0.870114	0	0
LPHN1	22859	broad.mit.edu	37	19	14273658	14273658	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:14273658C>T	ENST00000340736.6	-	6	1267	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V319I|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	324	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACGTACAGGACCCCACACACC	0.617000													5	14					0	0	0.184627	0	0
AOX1	316	broad.mit.edu	37	2	201464399	201464399	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:201464399G>A	ENST00000374700.2	+	5	607	c.366G>A	c.(364-366)gtG>gtA	p.V122V		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	122					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGGGATGGTGATGTCCATCT	0.493000													14	123					0	0	0.520397	0	0
ASTN2	23245	broad.mit.edu	37	9	119737557	119737557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:119737557C>A	ENST00000313400.4	-	10	1919	c.1819G>T	c.(1819-1821)Gag>Tag	p.E607*	ASTN2_ENST00000361209.2_Nonsense_Mutation_p.E556*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.E603*|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	607						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATGGACAGCTCCACAGGCGGA	0.547000													34	228					4.3181e-19	5.36994e-19	0.769981	1	0
OR4C6	219432	broad.mit.edu	37	11	55432993	55432993	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:55432993C>T	ENST00000314259.3	+	1	380	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTGTGATGGCCTATGACCGCT	0.557000													42	236					0	0	0.847076	0	0
MATR3	9782	broad.mit.edu	37	5	138643661	138643661	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:138643661G>A	ENST00000394800.2	+	6	1106	c.557G>A	c.(556-558)aGa>aAa	p.R186K	MATR3_ENST00000502929.1_Missense_Mutation_p.R186K|MATR3_ENST00000361059.2_Missense_Mutation_p.R186K|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.R186K|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.R186K|MATR3_ENST00000394805.3_Missense_Mutation_p.R186K			P43243	MATR3_HUMAN	matrin 3	186						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACTTTAGAAGAGATAGTTTT	0.438000													20	121					0	0	0.575678	0	0
CACNA1C	775	broad.mit.edu	37	12	2797713	2797713	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:2797713G>T	ENST00000399655.1	+	46	6150	c.5885G>T	c.(5884-5886)cGa>cTa	p.R1962L	CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1982L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1987L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1962L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1962L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1981L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2033L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1990L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1979L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1962L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2033L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1962L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1981L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1970L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1981L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1970L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1968L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1962L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1997L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1997L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2003L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R2010L	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	2045					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)	CCTGGCAGCCGAGGCTGGCCC	0.657000													4	49					0.00307968	0.00317797	0.278610	1	0
OR52A5	390054	broad.mit.edu	37	11	5153259	5153259	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:5153259A>C	ENST00000307388.1	-	1	613	c.614T>G	c.(613-615)gTt>gGt	p.V205G		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCAAAGGCAACAAATAGGCC	0.423000													36	244					0	0	0.796494	0	0
GCOM1	145781	broad.mit.edu	37	15	57953691	57953691	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:57953691T>C	ENST00000574161.1	+	11	1282	c.1163T>C	c.(1162-1164)aTa>aCa	p.I388T	GCOM1_ENST00000380569.2_Missense_Mutation_p.I388T|GCOM1_ENST00000572390.1_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000396180.1_Missense_Mutation_p.I357T|MYZAP_ENST00000267853.5_Missense_Mutation_p.I388T|GCOM1_ENST00000380560.2_Missense_Mutation_p.I319T|MYZAP_ENST00000380565.4_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.I388T|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.I388T	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		388					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGCTCTTAATACTGCAGCTT	0.313000													5	36					0	0	0.184627	0	0
SMOC2	64094	broad.mit.edu	37	6	168910741	168910741	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:168910741G>A	ENST00000354536.5	+	2	451	c.231G>A	c.(229-231)gaG>gaA	p.E77E	SMOC2_ENST00000356284.2_Silent_p.E77E	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	77	Kazal-like.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCAGCTAGAGATTGCATATC	0.458000													3	64					0	0	0.115264	0	0
AGO3	192669	broad.mit.edu	37	1	36411406	36411406	+	Translation_Start_Site	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:36411406G>A	ENST00000246314.6	+	0	302				AGO3_ENST00000397828.2_Missense_Mutation_p.D45N|AGO3_ENST00000324350.5_Missense_Mutation_p.D45N|AGO3_ENST00000373191.4_Missense_Mutation_p.D45N	NM_177422.2	NP_803171.1			argonaute RISC catalytic component 3																		CCCAAAGATTGATGTCTACCT	0.428000													4	91					0	0	0.184627	0	0
INPP5F	22876	broad.mit.edu	37	10	121579052	121579052	+	Splice_Site	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:121579052G>T	ENST00000369080.3	+	1	824		c.e1+1		INPP5F_ENST00000361976.2_Intron|INPP5F_ENST00000490818.1_3'UTR	NM_001243194.1	NP_001230123.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F								phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGAGTGCACGTAAGTATCAA	0.333000													8	15					0.000274275	0.000286072	0.307466	1	0
VN1R2	317701	broad.mit.edu	37	19	53761893	53761893	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:53761893G>T	ENST00000341702.3	+	1	349	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	89					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		caaacctgtggggctggaccc	0.433000													6	25					0.0477658	0.0484315	0.307466	1	0
SERPINB3	6317	broad.mit.edu	37	18	61324185	61324185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:61324185G>T	ENST00000283752.5	-	7	791	c.648C>A	c.(646-648)taC>taA	p.Y216*	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	216					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GAAAAGATGTGTATTGCCTCA	0.383000													11	106					9.31168e-06	1.01108e-05	0.435327	1	0
ISLR2	57611	broad.mit.edu	37	15	74426123	74426123	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:74426123C>A	ENST00000361742.3	+	4	1797	c.1028C>A	c.(1027-1029)cCc>cAc	p.P343H	ISLR2_ENST00000565540.1_Missense_Mutation_p.P343H|ISLR2_ENST00000565159.1_Missense_Mutation_p.P343H|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.P343H|ISLR2_ENST00000445793.1_Missense_Mutation_p.P343H|ISLR2_ENST00000435464.1_Missense_Mutation_p.P343H|ISLR2_ENST00000419208.1_Missense_Mutation_p.P343H	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	343	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTGTTGGTGCCCCTCCTGAGT	0.672000													10	36					2.27111e-07	2.53216e-07	0.411799	1	0
PHACTR1	221692	broad.mit.edu	37	6	13228216	13228216	+	Silent	SNP	C	C	T	rs139729794	by1000genomes	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:13228216C>T	ENST00000379350.1	+	8	1284	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	PHACTR1_ENST00000457702.2_Silent_p.Y240Y|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.Y385Y			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	385						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGTCAGACTACGAAGACTCTT	0.448000													11	256					0	0	0.387290	0	0
ABCG2	9429	broad.mit.edu	37	4	89034566	89034566	+	Silent	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:89034566G>T	ENST00000237612.3	-	9	1628	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	ABCG2_ENST00000515655.1_Silent_p.I361I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	361					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TGAAGACTGTGATCTTCTTCT	0.433000													33	313					2.0683e-36	2.72341e-36	0.796494	1	0
ZBTB46	140685	broad.mit.edu	37	20	62407080	62407080	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:62407080G>A	ENST00000245663.4	-	3	1323	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	ZBTB46_ENST00000302995.2_Silent_p.D391D|ZBTB46_ENST00000395104.1_Silent_p.D391D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGGGAGCCGTCATCCCCCA	0.662000											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	0.115264	0	0
CD5L	922	broad.mit.edu	37	1	157805761	157805761	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:157805761C>A	ENST00000368174.4	-	3	336	c.240G>T	c.(238-240)gaG>gaT	p.E80D	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	80	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGCTGGTGGCTCATACAAAA	0.507000													46	395					2.64514e-33	3.45172e-33	0.870114	1	0
SLC4A5	57835	broad.mit.edu	37	2	74477526	74477526	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:74477526T>C	ENST00000394019.2	-	17	1994	c.1597A>G	c.(1597-1599)Atc>Gtc	p.I533V	SLC4A5_ENST00000359484.4_Missense_Mutation_p.I469V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.I533V|SLC4A5_ENST00000423644.1_Missense_Mutation_p.I533V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.I533V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.I533V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.I469V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.I533V	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	533						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCGTTGGTGATACAGCCGAGG	0.517000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	198					0	0	0.278610	0	0
VMP1	81671	broad.mit.edu	37	17	57917156	57917156	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:57917156G>C	ENST00000262291.4	+	12	1415	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	VMP1_ENST00000539763.1_Missense_Mutation_p.E177Q|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000536180.1_Missense_Mutation_p.E272Q|VMP1_ENST00000537567.1_Missense_Mutation_p.E235Q|VMP1_ENST00000545362.1_Missense_Mutation_p.E313Q	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	369					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		p.E369Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTGGATGTTTGAAAAGTTGGT	0.388000													59	490					0	0	0.870114	0	0
VCAN	1462	broad.mit.edu	37	5	82816386	82816386	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:82816386C>A	ENST00000265077.3	+	7	2826	c.2261C>A	c.(2260-2262)aCa>aAa	p.T754K	VCAN_ENST00000512590.2_Missense_Mutation_p.T706K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T754K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	754	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACATTGATAACAAAGTTAAGT	0.378000													17	116					1.02788e-11	1.21591e-11	0.520397	1	0
RNFT1	51136	broad.mit.edu	37	17	58035664	58035664	+	Silent	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:58035664A>G	ENST00000305783.8	-	5	889	c.834T>C	c.(832-834)ccT>ccC	p.P278P	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	278						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TAGATTTAAAAGGCATGATGA	0.318000													3	164					0	0	0.150653	0	0
LZTR1	8216	broad.mit.edu	37	22	21349176	21349176	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr22:21349176C>G	ENST00000215739.8	+	16	2162	c.1803C>G	c.(1801-1803)ttC>ttG	p.F601L	LZTR1_ENST00000389355.3_Missense_Mutation_p.F582L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	601					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCTGAACTTCGTGGTAAAGG	0.617000													6	50					0	0	0.248553	0	0
COL5A2	1290	broad.mit.edu	37	2	189904079	189904079	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:189904079T>C	ENST00000374866.3	-	51	4118	c.3844A>G	c.(3844-3846)Atg>Gtg	p.M1282V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1282	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGCTGCGCATGGTTTCAATC	0.527000													23	122					0	0	0.681144	0	0
ITGA8	8516	broad.mit.edu	37	10	15688876	15688876	+	Silent	SNP	G	G	A	rs150699841	by1000genomes	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:15688876G>A	ENST00000378076.3	-	12	1529	c.1176C>T	c.(1174-1176)caC>caT	p.H392H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	392					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.H392H(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTCTCCTAAGTGTGCCATAG	0.468000													13	52					0	0	0.457914	0	0
RBM39	9584	broad.mit.edu	37	20	34319911	34319911	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:34319911C>T	ENST00000361162.6	-	4	632	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R83H|RBM39_ENST00000528062.3_Missense_Mutation_p.R83H	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	83	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACTTCTTGAGCGGCTCCGTCG	0.433000													4	209					0	0	0.150653	0	0
ITIH5	80760	broad.mit.edu	37	10	7627901	7627901	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:7627901A>T	ENST00000256861.6	-	8	1149	c.1071T>A	c.(1069-1071)gaT>gaA	p.D357E	ITIH5_ENST00000298441.6_Missense_Mutation_p.D143E|ITIH5_ENST00000446830.2_Missense_Mutation_p.D139E|ITIH5_ENST00000397145.2_Missense_Mutation_p.D357E|ITIH5_ENST00000397146.2_Missense_Mutation_p.D357E|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	357	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACACTTTCCCATCCCTGATGC	0.428000													40	160					0	0	0.840704	0	0
TRPS1	7227	broad.mit.edu	37	8	116616126	116616126	+	Silent	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:116616126C>G	ENST00000395715.3	-	4	2647	c.2070G>C	c.(2068-2070)gtG>gtC	p.V690V	TRPS1_ENST00000520276.1_Silent_p.V681V|TRPS1_ENST00000519674.1_Silent_p.V677V|TRPS1_ENST00000220888.5_Silent_p.V677V|TRPS1_ENST00000519076.1_Silent_p.V431V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	677	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTCTTCTTCCACTTGGGTAA	0.433000									Langer-Giedion syndrome				21	101					0	0	0.608945	0	0
SMC4	10051	broad.mit.edu	37	3	160120513	160120513	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:160120513T>C	ENST00000357388.3	+	4	819	c.368T>C	c.(367-369)aTt>aCt	p.I123T	SMC4_ENST00000462787.1_Missense_Mutation_p.I123T|SMC4_ENST00000469762.1_Missense_Mutation_p.I98T|SMC4_ENST00000360111.2_Missense_Mutation_p.I123T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.I123T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	123					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCAATGTTATTGATTCTATG	0.343000													22	125					0	0	0.624587	0	0
ASCL3	56676	broad.mit.edu	37	11	8959359	8959359	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:8959359C>T	ENST00000325884.1	-	2	409	c.350G>A	c.(349-351)cGc>cAc	p.R117H	ASCL3_ENST00000531618.1_Missense_Mutation_p.R117H	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	116	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CAGATGATGGCGGAGCTGGGC	0.537000													45	110					0	0	0.870114	0	0
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393000													4	201					0	0	0.150653	0	0
SPATA18	132671	broad.mit.edu	37	4	52943204	52943204	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:52943204G>C	ENST00000295213.4	+	7	1392	c.1018G>C	c.(1018-1020)Gtg>Ctg	p.V340L	SPATA18_ENST00000419395.2_Missense_Mutation_p.V308L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	340					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATCGCCACAGTGGTATGTGA	0.587000													3	29					0	0	0.115264	0	0
BCL11A	53335	broad.mit.edu	37	2	60688844	60688844	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:60688844G>A	ENST00000335712.6	-	4	1430	c.1203C>T	c.(1201-1203)ggC>ggT	p.G401G	BCL11A_ENST00000538214.1_Silent_p.G367G|BCL11A_ENST00000358510.4_Silent_p.G367G|BCL11A_ENST00000537768.1_Silent_p.G70G|BCL11A_ENST00000356842.4_Silent_p.G401G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	401					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGGCTTCTCGCCCGTGTGGC	0.607000			T	IGH@	B-CLL								8	124					0	0	0.335167	0	0
TTN	7273	broad.mit.edu	37	2	179616666	179616666	+	Silent	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:179616666T>C	ENST00000360870.5	-	46	10683	c.10461A>G	c.(10459-10461)agA>agG	p.R3487R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3489							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTGCATATCTTTTAGCAG	0.388000													55	527					0	0	0.870114	0	0
ZNF532	55205	broad.mit.edu	37	18	56620951	56620951	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:56620951G>T	ENST00000336078.4	+	8	3846	c.3070G>T	c.(3070-3072)Ggg>Tgg	p.G1024W	ZNF532_ENST00000591230.1_Missense_Mutation_p.G1024W|ZNF532_ENST00000591808.1_Missense_Mutation_p.G1024W|ZNF532_ENST00000591083.1_Missense_Mutation_p.G1024W|ZNF532_ENST00000589288.1_Missense_Mutation_p.G1024W	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1024					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GGCCAGTCCTGGGTGGACGTG	0.458000													23	125					1.39806e-14	1.70224e-14	0.729181	1	0
ASPM	259266	broad.mit.edu	37	1	197074076	197074076	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:197074076C>T	ENST00000367409.4	-	18	4561	c.4305G>A	c.(4303-4305)aaG>aaA	p.K1435K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1435					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTACGTTGCTTCCATTTTC	0.313000													6	86					0	0	0.248553	0	0
TMC7	79905	broad.mit.edu	37	16	19049220	19049220	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:19049220C>T	ENST00000421369.3	+	8	1258	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	TMC7_ENST00000569532.1_Missense_Mutation_p.R344W|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Missense_Mutation_p.R344W	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	344						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAAAGAATGCGGCAGAAAAT	0.398000													6	226					0	0	0.248553	0	0
EPS15L1	58513	broad.mit.edu	37	19	16472709	16472709	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:16472709C>A	ENST00000455140.2	-	23	2533	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	EPS15L1_ENST00000248070.6_Missense_Mutation_p.D823Y|EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000594975.1_3'UTR	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	823	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGGAACGGGTCGCCGCTGTCA	0.557000													5	29					1.26484e-09	1.46059e-09	0.278610	1	0
OR4D10	390197	broad.mit.edu	37	11	59245746	59245746	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:59245746C>T	ENST00000530162.1	+	1	901	c.844C>T	c.(844-846)Ctc>Ttc	p.L282F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCTCTGCTCAACCCCTT	0.493000													39	144					0	0	0.827153	0	0
PTPRA	5786	broad.mit.edu	37	20	2968709	2968709	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:2968709T>A	ENST00000216877.6	+	7	932	c.532T>A	c.(532-534)Tcc>Acc	p.S178T	PTPRA_ENST00000399903.2_Missense_Mutation_p.S187T|PTPRA_ENST00000380393.3_Missense_Mutation_p.S187T|PTPRA_ENST00000356147.3_Missense_Mutation_p.S178T|PTPRA_ENST00000358719.4_Missense_Mutation_p.S43T|PTPRA_ENST00000318266.5_Missense_Mutation_p.S178T|PTPRA_ENST00000425918.2_Missense_Mutation_p.S198T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	178					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGGAGCCATTCCAATTCTTT	0.443000													44	260					0	0	0.870114	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078246	6078246	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:6078246C>A	ENST00000199389.6	-	10	1322	c.1176G>T	c.(1174-1176)tgG>tgT	p.W392C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.W268C	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	392	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)		CTATCCAATCCCACAGCGAGA	0.562000													16	79					2.32416e-17	2.8658e-17	0.624587	1	0
FLG2	388698	broad.mit.edu	37	1	152328427	152328427	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:152328427C>G	ENST00000388718.5	-	3	1907	c.1835G>C	c.(1834-1836)aGa>aCa	p.R612T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	612	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTGATCTAGACTCATG	0.507000													60	436					0	0	0.870114	0	0
RAB27B	5874	broad.mit.edu	37	18	52556570	52556570	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:52556570C>T	ENST00000262094.5	+	6	1104	c.583C>T	c.(583-585)Cct>Tct	p.P195S	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	195					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GACACAAATCCCTGATACTGT	0.423000													22	118					0	0	0.608945	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672859	10672859	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:10672859T>A	ENST00000302079.6	-	50	7644	c.7645A>T	c.(7645-7647)Atg>Ttg	p.M2549L	PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2637L|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2612L|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M569L|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M404L|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2612						integral to membrane	ion channel activity										GTAATATCCATGAAATTATTT	0.348000													8	126					0	0	0.307466	0	0
KLK11	11012	broad.mit.edu	37	19	51527394	51527394	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:51527394A>G	ENST00000594768.1	-	4	651	c.466T>C	c.(466-468)Tgg>Cgg	p.W156R	KLK11_ENST00000319720.7_Missense_Mutation_p.W124R|KLK11_ENST00000453757.3_Missense_Mutation_p.W124R|KLK11_ENST00000391804.3_Missense_Mutation_p.W149R|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	156	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CGCACAGCCCAGGTGATGGAG	0.617000													31	122					0	0	0.769981	0	0
OR4D10	390197	broad.mit.edu	37	11	59245745	59245745	+	Silent	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:59245745G>T	ENST00000530162.1	+	1	900	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCCCCTCTGCTCAACCCCT	0.498000													41	148					1.62957e-23	2.07077e-23	0.840704	1	0
OR1C1	26188	broad.mit.edu	37	1	247920884	247920884	+	Silent	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:247920884G>T	ENST00000408896.2	-	1	1098	c.825C>A	c.(823-825)acC>acA	p.T275T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AATACATGATGGTTGACAGAG	0.498000													84	238					1.46924e-35	1.9259e-35	0.870114	1	0
MMP12	4321	broad.mit.edu	37	11	102734913	102734913	+	RNA	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:102734913C>A	ENST00000532855.1	-	0	1371							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATTTTAGGCCCGATTCCTTGG	0.393000													15	85					1.02788e-11	1.21591e-11	0.520397	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	98					0	0	0.115264	0	0
LDLR	3949	broad.mit.edu	37	19	11227547	11227547	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:11227547G>T	ENST00000558518.1	+	12	1905	c.1718G>T	c.(1717-1719)gGc>gTc	p.G573V	LDLR_ENST00000535915.1_Missense_Mutation_p.G532V|LDLR_ENST00000557933.1_Missense_Mutation_p.G573V|LDLR_ENST00000558013.1_Missense_Mutation_p.G573V|LDLR_ENST00000545707.1_Missense_Mutation_p.G446V|LDLR_ENST00000455727.2_Missense_Mutation_p.G405V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	573					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTCCTCAGTGGCCGCCTCTAC	0.582000													22	114					1.85244e-09	2.13067e-09	0.654019	1	0
CDH24	64403	broad.mit.edu	37	14	23517523	23517523	+	Missense_Mutation	SNP	G	G	A	rs150958098	byFrequency	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:23517523G>A	ENST00000397359.3	-	13	2385	c.2126C>T	c.(2125-2127)gCg>gTg	p.A709V	CDH24_ENST00000554034.1_Missense_Mutation_p.A671V|CDH24_ENST00000487137.2_Missense_Mutation_p.A671V|CDH24_ENST00000267383.5_Missense_Mutation_p.A709V|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	709					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		cgggggggccgccccgTCCGG	0.761000													6	38					0	0	0.217242	0	0
CCDC40	55036	broad.mit.edu	37	17	78073488	78073488	+	Silent	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:78073488C>A	ENST00000397545.4	+	20	3370	c.3343C>A	c.(3343-3345)Cgg>Agg	p.R1115R		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1115					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGACCGCGTGCGGGACGAGTA	0.647000													18	31					5.3912e-06	5.87581e-06	0.539581	1	0
FAM21EP	100421577	broad.mit.edu	37	10	51807997	51807997	+	RNA	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:51807997T>A	ENST00000456967.1	-	0	1855					NR_038275.1																						GCAGATGCTTTCTTTTTGGAG	0.458000													37	91					0	0	0.853193	0	0
KIAA1109	84162	broad.mit.edu	37	4	123122203	123122203	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:123122203C>T	ENST00000264501.4	+	15	1793	c.1420C>T	c.(1420-1422)Ccg>Tcg	p.P474S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P474S|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P474S			Q2LD37	K1109_HUMAN	KIAA1109	474					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGAACATGCCGCAGACATG	0.373000													18	157					0	0	0.608945	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070151	114070151	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:114070151C>G	ENST00000462705.1	-	11	1376	c.555G>C	c.(553-555)gaG>gaC	p.E185D	ZBTB20_ENST00000357258.3_Missense_Mutation_p.E185D|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E185D|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E185D|ZBTB20_ENST00000474710.1_Missense_Mutation_p.E258D|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E185D|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E185D	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AAAAAGAGCGCTCGCCGCTGC	0.647000													5	112					0	0	0.217242	0	0
EPHA8	2046	broad.mit.edu	37	1	22927468	22927468	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:22927468C>T	ENST00000166244.3	+	15	2688	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCATGCTCGACTGTTGGC	0.672000													12	53					0	0	0.479597	0	0
CCDC180	100499483	broad.mit.edu	37	9	100136920	100136920	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:100136920C>T	ENST00000375202.2	+	49	6180	c.4828C>T	c.(4828-4830)Cgt>Tgt	p.R1610C	CCDC180_ENST00000357054.1_Missense_Mutation_p.R1555C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1610C					coiled-coil domain containing 180																		CCTGATTGAACGTGGAAGCAG	0.507000													9	55					0	0	0.361761	0	0
DOPEY1	23033	broad.mit.edu	37	6	83845479	83845479	+	Silent	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:83845479A>C	ENST00000349129.2	+	20	3272	c.3012A>C	c.(3010-3012)ccA>ccC	p.P1004P	DOPEY1_ENST00000237163.5_Silent_p.P985P|DOPEY1_ENST00000369739.3_Silent_p.P995P	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1004					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCTTCATCCAAAAACTCAGA	0.448000													3	217					0	0	0.115264	0	0
PPCDC	60490	broad.mit.edu	37	15	75340919	75340919	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:75340919G>A	ENST00000342932.3	+	5	530	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PPCDC_ENST00000568649.1_Missense_Mutation_p.R86H|PPCDC_ENST00000563393.1_Missense_Mutation_p.R6H|PPCDC_ENST00000567336.1_Missense_Mutation_p.R97H|PPCDC_ENST00000564923.1_Missense_Mutation_p.R54H	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	129					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						GCCTGGGACCGCAGCAAGCCC	0.642000													4	64					0	0	0.150653	0	0
NAALAD2	10003	broad.mit.edu	37	11	89902143	89902143	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:89902143C>T	ENST00000534061.1	+	12	1555	c.1325C>T	c.(1324-1326)tCg>tTg	p.S442L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S409L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATATCAACTCGGATTCATCT	0.289000													4	68					0	0	0.184627	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43696229	43696229	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:43696229C>T	ENST00000395809.1	-	5	3073	c.567G>A	c.(565-567)ccG>ccA	p.P189P	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Silent_p.P189P|RASGEF1A_ENST00000374459.1_Silent_p.P197P			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	189					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TGTCTACAGCCGGTGGCCGGA	0.642000													3	19					0	0	0.150653	0	0
PFKM	5213	broad.mit.edu	37	12	48535581	48535581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:48535581C>T	ENST00000340802.6	+	18	1908	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	PFKM_ENST00000359794.5_Nonsense_Mutation_p.Q491*|PFKM_ENST00000551804.1_Nonsense_Mutation_p.Q460*|PFKM_ENST00000312352.7_Nonsense_Mutation_p.Q491*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.Q491*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.Q460*	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	491					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTTTAACATTCAGGGCCTTGT	0.512000													29	224					0	0	0.740014	0	0
FPGT	8790	broad.mit.edu	37	1	74670318	74670318	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:74670318G>A	ENST00000370898.2	+	4	624	c.587G>A	c.(586-588)aGt>aAt	p.S196N	TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370893.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CATCCTTCTAGTTTGACGATA	0.368000													29	190					0	0	0.769981	0	0
HSD17B4	3295	broad.mit.edu	37	5	118813117	118813117	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:118813117A>T	ENST00000504811.1	+	8	614	c.430A>T	c.(430-432)Atc>Ttc	p.I144F	HSD17B4_ENST00000515320.1_Missense_Mutation_p.I101F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.I95F|HSD17B4_ENST00000513628.1_5'UTR|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.I119F|HSD17B4_ENST00000414835.2_5'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	119	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTAGATATAATCCACAGAGT	0.338000													17	123					0	0	0.520397	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769609	112769609	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:112769609T>A	ENST00000390666.3	-	1	1119	c.928A>T	c.(928-930)Acc>Tcc	p.T310S	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	310					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCAGCTTGGTGGCAGACTTC	0.612000													10	39					0	0	0.387290	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378626	142378626	+	RNA	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:142378626C>G	ENST00000390398.3	+	0	55																											TCAGGCTCCTCTGCTACGTGG	0.473000													8	23					0	0	0.307466	0	0
FOXK1	221937	broad.mit.edu	37	7	4780505	4780505	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:4780505C>G	ENST00000328914.4	+	2	597	c.597C>G	c.(595-597)atC>atG	p.I199M	FOXK1_ENST00000446823.1_Missense_Mutation_p.I36M	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	199					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCATCAAGATCCAGTTCACGT	0.612000													14	426					0	0	0.479597	0	0
THNSL1	79896	broad.mit.edu	37	10	25313016	25313016	+	Silent	SNP	C	C	T	rs150015345		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:25313016C>T	ENST00000524413.1	+	3	1211	c.864C>T	c.(862-864)taC>taT	p.Y288Y	THNSL1_ENST00000376356.4_Silent_p.Y288Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	288					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GAGCAACCTACGTAGAAAGAG	0.463000													19	120					0	0	0.575678	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906879	158906879	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:158906879C>T	ENST00000368140.1	+	2	424	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PYHIN1_ENST00000368135.4_Missense_Mutation_p.A60V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.A60V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.A60V|PYHIN1_ENST00000368138.3_Missense_Mutation_p.A60V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	60	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAGGTGATGCCGGTTTGGGC	0.363000													4	238					0	0	0.184627	0	0
QRFPR	84109	broad.mit.edu	37	4	122254123	122254123	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:122254123A>C	ENST00000394427.2	-	4	1061	c.650T>G	c.(649-651)tTc>tGc	p.F217C	QRFPR_ENST00000334383.5_Missense_Mutation_p.F217C	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	217						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GACAAGGATGAAGGTGGTGTA	0.408000													7	236					0	0	0.278610	0	0
MS4A7	58475	broad.mit.edu	37	11	60157005	60157005	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:60157005A>G	ENST00000358246.1	+	4	540	c.347A>G	c.(346-348)tAt>tGt	p.Y116C	MS4A7_ENST00000300184.3_Missense_Mutation_p.Y161C|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.Y116C	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	161						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TCATTGCCTTATTCGGAGTAC	0.438000													37	139					0	0	0.834066	0	0
PURG	29942	broad.mit.edu	37	8	30889679	30889679	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:30889679C>A	ENST00000475541.1	-	1	1552	c.620G>T	c.(619-621)gGc>gTc	p.G207V	PURG_ENST00000339382.2_Missense_Mutation_p.G207V	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	207						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ACCTATCATGCCAGTCCCCCG	0.463000													48	103					1.07234e-20	1.33928e-20	0.870114	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968734	62968734	+	RNA	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:62968734G>A	ENST00000430983.1	-	0	1510					NR_026903.1																						CCACAACACAGAAGGCATCTT	0.358000													18	166					0	0	0.557998	0	0
CACNG8	59283	broad.mit.edu	37	19	54466477	54466477	+	Silent	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:54466477C>G	ENST00000270458.2	+	1	184	c.81C>G	c.(79-81)ggC>ggG	p.G27G		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	27					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGACGGTGGGCGCCTTCGCCG	0.667000													4	12					0	0	0.217242	0	0
CHD5	26038	broad.mit.edu	37	1	6202265	6202265	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:6202265G>A	ENST00000262450.3	-	15	2458	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	787	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCACCGAGCGGCTCTCCTTG	0.567000													6	75					0	0	0.248553	0	0
C10orf12	26148	broad.mit.edu	37	10	98743845	98743845	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:98743845G>A	ENST00000286067.2	+	1	2805	c.2698G>A	c.(2698-2700)Gtt>Att	p.V900I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	900										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCCAGGAGACGTTCCCCCTGT	0.428000													5	170					0	0	0.184627	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500428	6500428	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:6500428C>A	ENST00000254584.2	-	4	340	c.257G>T	c.(256-258)cGg>cTg	p.R86L	ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86L|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86L|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48L	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	86					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCAATGCCCCGAGCCACCTC	0.512000													43	140					3.54909e-21	4.45166e-21	0.859065	1	0
ITGB3	3690	broad.mit.edu	37	17	45384923	45384923	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:45384923T>C	ENST00000559488.1	+	14	2237	c.2221T>C	c.(2221-2223)Tgg>Cgg	p.W741R	ITGB3_ENST00000435993.2_Missense_Mutation_p.W694R|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Missense_Mutation_p.L729P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	741				ALLIW -> PCSSG (in Ref. 11; AAA67537).	activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCTGCTCATCTGGAAACTCCT	0.557000													4	187					0	0	0.150653	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695409	100695409	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:100695409C>T	ENST00000268070.4	-	9	1403	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	433	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AAGGTCATCTCGGCTGCAGGA	0.478000													32	96					0	0	0.788014	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152596	70152596	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:70152596C>A	ENST00000335568.5	+	3	999	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.Q333K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	333					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CAAGATCCCACAAAAGGTAAG	0.418000													108	319					1.09907e-53	1.46041e-53	0.870114	1	0
EBF2	64641	broad.mit.edu	37	8	25708202	25708202	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:25708202G>A	ENST00000520164.1	-	15	2141	c.1604C>T	c.(1603-1605)gCt>gTt	p.A535V	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.A387V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	535					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGTTTGACAGCAGGAAAAAC	0.517000													6	335					0	0	0.248553	0	0
TMLHE	55217	broad.mit.edu	37	X	154736668	154736668	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chrX:154736668G>A	ENST00000334398.3	-	6	1031	c.886C>T	c.(886-888)Cca>Tca	p.P296S	TMLHE_ENST00000369439.4_Missense_Mutation_p.P296S|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	296					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTTCAATGGCACTTTACTG	0.423000													5	332					0	0	0.217242	0	0
RAB38	23682	broad.mit.edu	37	11	87908545	87908545	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:87908545G>T	ENST00000243662.6	-	1	90	c.8C>A	c.(7-9)gCc>gAc	p.A3D		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	3					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTGCGGGGCCTGCATCCT	0.632000													12	45					3.27435e-08	3.69317e-08	0.457914	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51649150	51649150	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:51649150C>A	ENST00000317643.6	+	4	868	c.799C>A	c.(799-801)Cta>Ata	p.L267I	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.L174I|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	267	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCTTTCAGTCCTAGAGGGCCA	0.537000													9	343					0.000978159	0.00101659	0.387290	1	0
DENND4C	55667	broad.mit.edu	37	9	19316732	19316732	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:19316732C>T	ENST00000380432.2	+	8	1027	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	332	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGCATTTTTGCGCTTTATGGC	0.413000													4	216					0	0	0.184627	0	0
CCT6B	10693	broad.mit.edu	37	17	33288358	33288358	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:33288358C>A	ENST00000314144.5	-	1	170	c.55G>T	c.(55-57)Gct>Tct	p.A19S	CCT6B_ENST00000421975.3_Missense_Mutation_p.A19S|CCT6B_ENST00000436961.3_Missense_Mutation_p.A19S	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	19				AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347).	chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACAGCCAAAGCTGCCCGGGCC	0.562000													7	51					5.18039e-06	5.66727e-06	0.278610	1	0
CBX2	84733	broad.mit.edu	37	17	77753163	77753163	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:77753163A>G	ENST00000310942.4	+	3	223	c.119A>G	c.(118-120)cAt>cGt	p.H40R	CBX2_ENST00000269399.5_Missense_Mutation_p.H40R	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	40	Chromo.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTTGCAGACATAACAGCTGG	0.627000													3	10					0	0	0.115264	0	0
AGAP3	116988	broad.mit.edu	37	7	150839715	150839715	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:150839715C>T	ENST00000397238.2	+	16	2267	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V	AGAP3_ENST00000463381.1_Missense_Mutation_p.A425V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	720					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGCCTGATGCCTGCAGGTGA	0.632000													20	27					0	0	0.608945	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138481	32138481	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:32138481A>G	ENST00000312561.4	+	4	5006	c.4592A>G	c.(4591-4593)aAc>aGc	p.N1531S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAAACATACAACATTCTAAGG	0.368000													23	39					0	0	0.654019	0	0
PSG7	5676	broad.mit.edu	37	19	43430703	43430703	+	RNA	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:43430703T>A	ENST00000446844.3	-	0	964				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGGATCCTGTTTTCAATGCG	0.502000													69	501					0	0	0.870114	0	0
P2RY1	5028	broad.mit.edu	37	3	152553814	152553814	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:152553814G>A	ENST00000305097.3	+	1	1079	c.243G>A	c.(241-243)aaG>aaA	p.K81K		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	81					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCACATGAAGCCCTGGAGCG	0.507000													11	71					0	0	0.411799	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203448	69203448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:69203448G>A	ENST00000344157.4	-	3	636	c.301C>T	c.(301-303)Caa>Taa	p.Q101*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q101*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q101*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	101										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCAGATCTTTGATATTCCTCA	0.373000													15	90					0	0	0.457914	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964224	32964224	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:32964224A>G	ENST00000321639.5	+	10	2256	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	643						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCTCTCCTACAGTGATGGC	0.587000													35	145					0	0	0.804634	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489353	133489353	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:133489353C>T	ENST00000409261.1	-	17	5773	c.5400G>A	c.(5398-5400)ggG>ggA	p.G1800G	NCKAP5_ENST00000405974.3_Silent_p.G481G|NCKAP5_ENST00000409213.1_Silent_p.G481G|NCKAP5_ENST00000317721.6_Silent_p.G1800G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1800							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGCCTCATCCCTCTGGCGG	0.522000													17	124					0	0	0.592651	0	0
RREB1	6239	broad.mit.edu	37	6	7229614	7229614	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:7229614C>G	ENST00000379938.2	+	10	1819	c.1282C>G	c.(1282-1284)Ccc>Gcc	p.P428A	RREB1_ENST00000349384.6_Missense_Mutation_p.P428A|RREB1_ENST00000334984.6_Missense_Mutation_p.P428A|RREB1_ENST00000379933.3_Missense_Mutation_p.P428A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	428					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACAGTTCTCCCCGCGACCAA	0.582000													15	92					0	0	0.500413	0	0
RAB27B	5874	broad.mit.edu	37	18	52546673	52546673	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:52546673C>T	ENST00000262094.5	+	3	748	c.227C>T	c.(226-228)gCg>gTg	p.A76V	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGGACACTGCGGGACAAGAG	0.358000													6	495					0	0	0.248553	0	0
POLD3	10714	broad.mit.edu	37	11	74345735	74345735	+	Missense_Mutation	SNP	G	G	A	rs137901782	byFrequency	TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:74345735G>A	ENST00000263681.2	+	10	1243	c.1114G>A	c.(1114-1116)Gtc>Atc	p.V372I	POLD3_ENST00000532497.1_Missense_Mutation_p.V266I|POLD3_ENST00000527458.1_Missense_Mutation_p.V333I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	372					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCTCCTTCTGTCAAGGTAAA	0.473000													19	172					0	0	0.592651	0	0
LRRK2	120892	broad.mit.edu	37	12	40734098	40734098	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:40734098A>C	ENST00000298910.7	+	41	6009	c.5951A>C	c.(5950-5952)tAc>tCc	p.Y1984S		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1984	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTGGCAGATACCTCCACTCA	0.373000													50	467					0	0	0.870114	0	0
ZNF470	388566	broad.mit.edu	37	19	57089044	57089044	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:57089044A>G	ENST00000330619.8	+	6	1933	c.1247A>G	c.(1246-1248)aAg>aGg	p.K416R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K416R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATTCAGCATAAGAGAACTCAT	0.413000													3	193					0	0	0.115264	0	0
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552000													4	117					0	0	0.150653	0	0
SEMA6C	10500	broad.mit.edu	37	1	151111935	151111935	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:151111935T>A	ENST00000341697.3	-	6	2011	c.320A>T	c.(319-321)gAt>gTt	p.D107V				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	107	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTCTCCACATCTTGGCTTCT	0.488000													8	176					0	0	0.361761	0	0
BCL9	607	broad.mit.edu	37	1	147094256	147094256	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:147094256C>G	ENST00000234739.3	+	9	3827	c.3087C>G	c.(3085-3087)atC>atG	p.I1029M		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1029	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGATGCTATCAAGACTGTGG	0.488000			T	"""IGH@, IGL@"""	B-ALL								30	539					0	0	0.769981	0	0
TRIM58	25893	broad.mit.edu	37	1	248028109	248028109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:248028109G>T	ENST00000366481.3	+	3	667	c.619G>T	c.(619-621)Gag>Tag	p.E207*		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	207						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTGGAGGCGGAGGAGCGAGC	0.627000													6	28					0.000274275	0.000286072	0.307466	1	0
TNS3	64759	broad.mit.edu	37	7	47440030	47440030	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:47440030C>T	ENST00000398879.1	-	15	1245	c.879G>A	c.(877-879)aaG>aaA	p.K293K	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Silent_p.K293K			Q68CZ2	TENS3_HUMAN	tensin 3	293	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTAATTCAACCTTCCCATAGT	0.428000													5	177					0	0	0.184627	0	0
KPNA4	3840	broad.mit.edu	37	3	160243897	160243897	+	Splice_Site	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:160243897T>A	ENST00000334256.4	-	9	862		c.e9-2			NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCCATCACCTGTAGAAAAAA	0.343000													19	96					0	0	0.575678	0	0
CREB5	9586	broad.mit.edu	37	7	28843965	28843965	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:28843965G>A	ENST00000357727.2	+	8	1242	c.852G>A	c.(850-852)ctG>ctA	p.L284L	CREB5_ENST00000396300.2_Silent_p.L277L|CREB5_ENST00000396299.2_Silent_p.L251L|CREB5_ENST00000409603.1_Silent_p.L251L|CREB5_ENST00000396298.2_Silent_p.L145L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	284					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						accagacactgccaccccatc	0.587000													12	37					0	0	0.592651	0	0
CNPY3	10695	broad.mit.edu	37	6	42905837	42905837	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:42905837C>T	ENST00000372836.4	+	5	876	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	169	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GTGTGATGTGCTGGTGGAAGA	0.527000													5	181					0	0	0.184627	0	0
OR51F1	256892	broad.mit.edu	37	11	4791125	4791125	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:4791125G>T	ENST00000380383.1	-	1	43	c.44C>A	c.(43-45)aCa>aAa	p.T15K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T8K			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	8						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAATTTAGATGTTGAGTTGCT	0.418000													9	52					2.17888e-05	2.33108e-05	0.335167	1	0
STK17B	9262	broad.mit.edu	37	2	197002250	197002250	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:197002250C>A	ENST00000263955.4	-	8	1326	c.1040G>T	c.(1039-1041)aGc>aTc	p.S347I	STK17B_ENST00000409228.1_Missense_Mutation_p.S347I	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	347					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AACCATGCTGCTATCCTCTGG	0.403000													43	135					1.02591e-13	1.24391e-13	0.853193	1	0
UNC13C	440279	broad.mit.edu	37	15	54793050	54793050	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:54793050G>A	ENST00000545554.1	+	21	5175	c.5175G>A	c.(5173-5175)gaG>gaA	p.E1725E	UNC13C_ENST00000260323.11_Silent_p.E1725E|UNC13C_ENST00000537900.1_Silent_p.E1723E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1725	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGACATCTGAGCATGCTCTCT	0.433000													19	150					0	0	0.608945	0	0
TENM2	57451	broad.mit.edu	37	5	167642095	167642095	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:167642095C>T	ENST00000519204.1	+	20	3651	c.3533C>T	c.(3532-3534)tCg>tTg	p.S1178L	TENM2_ENST00000520394.1_Missense_Mutation_p.S1060L|TENM2_ENST00000545108.1_Missense_Mutation_p.S1298L|TENM2_ENST00000403607.2_Missense_Mutation_p.S1123L|TENM2_ENST00000518659.1_Missense_Mutation_p.S1299L					teneurin transmembrane protein 2																		GTGTCCGGCTCGCTCTACGTG	0.547000													15	84					0	0	0.500413	0	0
PCDH18	54510	broad.mit.edu	37	4	138450846	138450846	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:138450846G>C	ENST00000344876.4	-	1	2783	c.2397C>G	c.(2395-2397)caC>caG	p.H799Q	PCDH18_ENST00000412923.2_Missense_Mutation_p.H799Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.H10Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.H579Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	799					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAGTGACTGGTGACTGTTGT	0.493000													5	97					0	0	0.184627	0	0
OR2T33	391195	broad.mit.edu	37	1	248436666	248436666	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:248436666C>T	ENST00000318021.2	-	1	472	c.451G>A	c.(451-453)Gca>Aca	p.A151T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGTCAGCTGCACCCAGGAGC	0.592000													23	223					0	0	0.740014	0	0
LRP1B	53353	broad.mit.edu	37	2	141130658	141130658	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:141130658C>A	ENST00000389484.3	-	69	11658	c.10687G>T	c.(10687-10689)Ggt>Tgt	p.G3563C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3563	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3563C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACACTGACCATTGGAACAC	0.358000										TSP Lung(27;0.18)			59	234					1.44317e-28	1.8665e-28	0.870114	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80202287	80202287	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:80202287G>C	ENST00000450142.2	-	11	1792	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S509C|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S509C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S509C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S422C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	509						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTCAATGTCAGATGTACTGGC	0.328000													6	145					0	0	0.361761	0	0
ISM1	140862	broad.mit.edu	37	20	13260463	13260463	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:13260463C>A	ENST00000262487.3	+	3	567	c.561C>A	c.(559-561)agC>agA	p.S187R	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	187						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAGACGACAGCAACTTCCTCA	0.592000													5	132					0.014758	0.0150687	0.184627	1	0
PTPRA	5786	broad.mit.edu	37	20	2968983	2968983	+	Splice_Site	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:2968983G>A	ENST00000216877.6	+	8	974		c.e8-1		PTPRA_ENST00000399903.2_Splice_Site|PTPRA_ENST00000380393.3_Splice_Site|PTPRA_ENST00000356147.3_Splice_Site|PTPRA_ENST00000358719.4_Splice_Site|PTPRA_ENST00000318266.5_Splice_Site|PTPRA_ENST00000425918.2_Splice_Site	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGTACTGCAGAGCCCCAGAG	0.547000													23	121					0	0	0.624587	0	0
NRG3	10718	broad.mit.edu	37	10	83635731	83635731	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:83635731T>A	ENST00000404547.1	+	1	635	c.635T>A	c.(634-636)gTg>gAg	p.V212E	NRG3_ENST00000372141.2_Missense_Mutation_p.V212E			P56975	NRG3_HUMAN	neuregulin 3	212	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CGACCCCCGGTGCCAGGAACT	0.657000													5	21					0	0	0.217242	0	0
CWC15	51503	broad.mit.edu	37	11	94704546	94704546	+	Silent	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:94704546T>G	ENST00000279839.6	-	3	359	c.237A>C	c.(235-237)ccA>ccC	p.P79P	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	79					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCTCGGGTTGGACGATCCC	0.403000													3	44					0	0	0.150653	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720282	140720282	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:140720282G>A	ENST00000394576.2	+	1	1744	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCGCTCCGCAGAGCCCGG	0.667000													60	178					0	0	0.870114	0	0
CASP10	843	broad.mit.edu	37	2	202074033	202074033	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:202074033G>C	ENST00000286186.6	+	9	1598	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.R388T|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.R345T|CASP10_ENST00000313728.7_Missense_Mutation_p.R321T|CASP10_ENST00000448480.1_Missense_Mutation_p.R345T	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	388					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGTGCCCTAGACTGGCTGAA	0.512000													15	133					0	0	0.500413	0	0
TRPV5	56302	broad.mit.edu	37	7	142609719	142609719	+	Silent	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:142609719A>G	ENST00000265310.1	-	13	2065	c.1717T>C	c.(1717-1719)Ttg>Ctg	p.L573L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	573					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCGATGAACAAGTTGAGCATG	0.527000													5	236					0	0	0.217242	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909612	182909612	+	Missense_Mutation	SNP	A	A	G	rs147577831		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:182909612A>G	ENST00000367547.3	-	3	858	c.622T>C	c.(622-624)Ttt>Ctt	p.F208L	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.F89L	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	280										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTGGAAGAAAAGGGCTCAGCA	0.383000													3	148					0	0	0.184627	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962880	69962880	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:69962880G>T	ENST00000305231.7	+	1	688	c.642G>T	c.(640-642)atG>atT	p.M214I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.M214I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	214					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M214I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAAAAAATATGATCTATGTGC	0.333000													9	125					0.00448238	0.00460909	0.307466	1	0
OR4C13	283092	broad.mit.edu	37	11	49974694	49974694	+	Silent	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:49974694C>A	ENST00000555099.1	+	1	752	c.720C>A	c.(718-720)tcC>tcA	p.S240S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H241N(1)|p.S240S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGTGTCTCCCACATCACAG	0.458000													92	358					4.4782e-45	5.92343e-45	0.870114	1	0
HGF	3082	broad.mit.edu	37	7	81334845	81334845	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:81334845T>G	ENST00000222390.5	-	17	2097	c.1871A>C	c.(1870-1872)aAc>aCc	p.N624T	HGF_ENST00000457544.2_Missense_Mutation_p.N619T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	624	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCCATCATAGTTGATCACTAG	0.348000													5	102					0	0	0.184627	0	0
KDM3B	51780	broad.mit.edu	37	5	137759816	137759816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:137759816C>A	ENST00000314358.5	+	16	4225	c.4025C>A	c.(4024-4026)tCa>tAa	p.S1342*	KDM3B_ENST00000542866.1_Nonsense_Mutation_p.S374*|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.S998*	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1342					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATCATTGCCTCAGTGGTAGAA	0.488000													7	166					5.4927e-09	6.24366e-09	0.307466	1	0
NKD1	85407	broad.mit.edu	37	16	50667594	50667594	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:50667594G>C	ENST00000268459.3	+	10	1539	c.1315G>C	c.(1315-1317)Gtg>Ctg	p.V439L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	439					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCCCGCCTTGGTGGTGTATGA	0.652000													3	6					0	0	0.115264	0	0
TTLL3	26140	broad.mit.edu	37	3	9877074	9877074	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:9877074G>C	ENST00000547186.1	+	13	2436	c.2220G>C	c.(2218-2220)aaG>aaC	p.K740N	TTLL3_ENST00000383827.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.K883N|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	740					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CAAATAAAAAGAAACAAGTGA	0.557000													34	187					0	0	0.788014	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825306	219825306	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:219825306C>A	ENST00000302625.4	+	1	930	c.764C>A	c.(763-765)gCc>gAc	p.A255D	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	255					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCGTCGGCCGCCGAGCTG	0.647000													16	184					7.07596e-05	7.48765e-05	0.539581	1	0
TRAF5	7188	broad.mit.edu	37	1	211529716	211529716	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:211529716A>C	ENST00000336184.2	+	4	344	c.284A>C	c.(283-285)aAa>aCa	p.K95T	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.K95T|TRAF5_ENST00000261464.5_Missense_Mutation_p.K95T|TRAF5_ENST00000427925.2_Missense_Mutation_p.K95T	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	95					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TAGGTTTTTAAAGACAATTGT	0.368000													31	158					0	0	0.740014	0	0
ITIH5	80760	broad.mit.edu	37	10	7627900	7627900	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:7627900C>A	ENST00000256861.6	-	8	1150	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	ITIH5_ENST00000298441.6_Missense_Mutation_p.G144W|ITIH5_ENST00000446830.2_Missense_Mutation_p.G140W|ITIH5_ENST00000397145.2_Missense_Mutation_p.G358W|ITIH5_ENST00000397146.2_Missense_Mutation_p.G358W|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	358	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TACACTTTCCCATCCCTGATG	0.428000													40	162					4.67007e-22	5.88307e-22	0.840704	1	0
MUC16	94025	broad.mit.edu	37	19	9087721	9087721	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:9087721G>T	ENST00000397910.4	-	1	4297	c.4094C>A	c.(4093-4095)tCt>tAt	p.S1365Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1365	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACTTCCAGAGTAAGCAGC	0.488000													35	245					1.36239e-07	1.52483e-07	0.779181	1	0
CR2	1380	broad.mit.edu	37	1	207648401	207648401	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:207648401C>T	ENST00000367057.3	+	14	2745	c.2556C>T	c.(2554-2556)gtC>gtT	p.V852V	CR2_ENST00000367058.3_Silent_p.V793V|CR2_ENST00000458541.2_Silent_p.V766V|CR2_ENST00000367059.3_Silent_p.V793V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	917	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATCCAGAAGTCAAACATGGGT	0.473000													21	217					0	0	0.608945	0	0
OR10A6	390093	broad.mit.edu	37	11	7950014	7950014	+	Silent	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:7950014A>G	ENST00000309838.2	-	1	195	c.196T>C	c.(196-198)Tta>Cta	p.L66L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCACAGATAAGTTCAGGAGA	0.443000													25	431					0	0	0.667858	0	0
CDH9	1007	broad.mit.edu	37	5	26881306	26881306	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:26881306C>A	ENST00000231021.4	-	12	2481	c.2309G>T	c.(2308-2310)tGg>tTg	p.W770L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACGAGGCCCCCAGTCACTGAG	0.418000													112	396					5.09e-60	6.82576e-60	0.870114	1	0
MYO3B	140469	broad.mit.edu	37	2	171258115	171258115	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:171258115C>T	ENST00000334231.6	+	18	2070	c.2070C>T	c.(2068-2070)gaC>gaT	p.D690D	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.D681D|MYO3B_ENST00000409044.3_Silent_p.D681D			Q8WXR4	MYO3B_HUMAN	myosin IIIB	681	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACGTTCGAGACGCCATGTCCA	0.567000													12	228					0	0	0.457914	0	0
IDH3B	3420	broad.mit.edu	37	20	2639447	2639447	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr20:2639447T>C	ENST00000380843.4	-	12	1138	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	370					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	ATGAAGTCGGTTGTGGTGCTG	0.567000													15	105					0	0	0.557998	0	0
ZNF679	168417	broad.mit.edu	37	7	63720645	63720645	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:63720645A>G	ENST00000421025.1	+	3	355	c.86A>G	c.(85-87)gAg>gGg	p.E29G	ZNF679_ENST00000255746.4_Missense_Mutation_p.E29G	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCTGGAGGAGTGGCAATGC	0.398000													10	323					0	0	0.361761	0	0
SLC47A2	146802	broad.mit.edu	37	17	19607464	19607464	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:19607464A>T	ENST00000350657.5	-	12	1153	c.979T>A	c.(979-981)Tgt>Agt	p.C327S	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.C349S	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	349						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					ACTCGGACACAGACCCCGATG	0.627000													3	21					0	0	0.115264	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455261	84455261	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr13:84455261C>A	ENST00000377084.2	-	1	1267	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	128						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCGTCCAGCCCCAGAAAAGTC	0.478000													12	192					1.5739e-10	1.83202e-10	0.500413	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			17	20					1.28384e-07	1.44246e-07	0.608945	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6529654	6529654	+	Missense_Mutation	SNP	C	C	T	rs144245744		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:6529654C>T	ENST00000377748.1	-	18	2611	c.2114G>A	c.(2113-2115)aGg>aAg	p.R705K	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R684K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R628K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R628K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R628K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R628K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R707K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R705K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R628K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R665K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R628K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R697K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	684	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGGTGGCCTGATGACCCT	0.607000													14	69					0	0	0.479597	0	0
SI	6476	broad.mit.edu	37	3	164758796	164758796	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:164758796G>A	ENST00000264382.3	-	18	2153	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	697	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTAGAGGAAGGGTAATAAGG	0.363000										HNSCC(35;0.089)			137	461					0	0	0.870114	0	0
APOB	338	broad.mit.edu	37	2	21257726	21257726	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:21257726T>C	ENST00000233242.1	-	8	993	c.866A>G	c.(865-867)gAa>gGa	p.E289G	APOB_ENST00000399256.4_Missense_Mutation_p.E289G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	289	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGTGTGTCTTCAAGTTTCAA	0.433000													45	301					0	0	0.870114	0	0
MS4A10	341116	broad.mit.edu	37	11	60557990	60557990	+	Splice_Site	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:60557990G>T	ENST00000308287.1	+	2	278	c.183_splice	c.e2+1	p.G61_splice		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	61						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						AAGGAGCTGGGGGTGAGCATC	0.602000													14	43					1.3612e-06	1.50042e-06	0.479597	1	0
USP51	158880	broad.mit.edu	37	X	55513782	55513782	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chrX:55513782C>G	ENST00000500968.3	-	2	1673	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	531					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCAGCCCTCTCTGGGTTCTGG	0.522000													17	28					0	0	0.500413	0	0
PIWIL1	9271	broad.mit.edu	37	12	130832712	130832712	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:130832712G>T	ENST00000245255.3	+	7	990	c.718G>T	c.(718-720)Gat>Tat	p.D240Y		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	240					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGACCCAATTGATATTCCAAG	0.318000													7	64					2.0095e-06	2.20666e-06	0.248553	1	0
MYO9A	4649	broad.mit.edu	37	15	72119337	72119337	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:72119337G>T	ENST00000356056.5	-	42	7703	c.7231C>A	c.(7231-7233)Cct>Act	p.P2411T	MYO9A_ENST00000444904.1_Missense_Mutation_p.P2392T|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.P2482T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2411	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGCTGGAAGGTTCAGACTTG	0.438000													16	131					2.4624e-09	2.82109e-09	0.575678	1	0
ARMC3	219681	broad.mit.edu	37	10	23270397	23270397	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:23270397A>T	ENST00000298032.5	+	9	1129	c.1045A>T	c.(1045-1047)Agc>Tgc	p.S349C	ARMC3_ENST00000409983.3_Missense_Mutation_p.S349C|ARMC3_ENST00000409049.3_Missense_Mutation_p.S349C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S86C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	349							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATTCAGGCAGCAAAGATTT	0.373000													39	105					0	0	0.840704	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182422	57182422	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr4:57182422G>A	ENST00000504228.1	+	6	2859	c.2754G>A	c.(2752-2754)agG>agA	p.R918R	KIAA1211_ENST00000264229.6_Silent_p.R918R|KIAA1211_ENST00000541073.1_Silent_p.R911R			Q6ZU35	K1211_HUMAN	KIAA1211	918										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCACCCGGAGGGACTCCGCTG	0.677000													6	50					0	0	0.278610	0	0
ARAP3	64411	broad.mit.edu	37	5	141039358	141039358	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:141039358G>A	ENST00000239440.4	-	22	3320	c.3255C>T	c.(3253-3255)atC>atT	p.I1085I	ARAP3_ENST00000513878.1_Silent_p.I747I|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.I916I	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1085	Rho-GAP.		I -> M (in a breast cancer sample; somatic mutation).		cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.I1085M(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAAAGACAGAGATGTAGCCAT	0.572000													15	56					0	0	0.500413	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468860	241468860	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:241468860C>T	ENST00000391987.1	-	5	646	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.V183M|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.V94M|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	94							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACAGCCCCACGTCCTGGCTG	0.592000													8	23					0	0	0.307466	0	0
RYR1	6261	broad.mit.edu	37	19	38958369	38958369	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:38958369C>A	ENST00000355481.4	+	25	3429	c.3298C>A	c.(3298-3300)Cgc>Agc	p.R1100S	RYR1_ENST00000359596.3_Missense_Mutation_p.R1100S|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGAGATGCGCGTGGGCTG	0.622000													48	260					2.27781e-18	2.82061e-18	0.870114	1	0
LTBP1	4052	broad.mit.edu	37	2	33614353	33614353	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:33614353A>T	ENST00000404816.2	+	32	5167	c.4814A>T	c.(4813-4815)gAt>gTt	p.D1605V	LTBP1_ENST00000390003.4_Missense_Mutation_p.D1280V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1226V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1224V|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1279V|LTBP1_ENST00000272273.5_Missense_Mutation_p.D503V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1237V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1606V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1605					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCAGAAGCCGATCCCTACTTC	0.473000													35	201					0	0	0.859065	0	0
MYO10	4651	broad.mit.edu	37	5	16877805	16877805	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:16877805G>A	ENST00000513610.1	-	2	487	c.33C>T	c.(31-33)gtC>gtT	p.V11V	MYO10_ENST00000507288.1_Silent_p.V11V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	11	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTCTCAGCCAGACCCGTGTTC	0.443000													6	64					0	0	0.217242	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307874	92307874	+	Silent	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:92307874T>C	ENST00000276609.3	+	4	659	c.420T>C	c.(418-420)ttT>ttC	p.F140F	SLC26A7_ENST00000523719.1_Silent_p.F140F|SLC26A7_ENST00000309536.2_Silent_p.F140F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	140						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATCCGACTTTGAAATGCAAA	0.488000													28	220					0	0	0.706142	0	0
NLRP3	114548	broad.mit.edu	37	1	247586536	247586536	+	Silent	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:247586536A>C	ENST00000366497.2	+	3	1068	c.288A>C	c.(286-288)tcA>tcC	p.S96S	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.S96S|NLRP3_ENST00000391828.3_Silent_p.S96S|NLRP3_ENST00000366496.2_Silent_p.S96S|NLRP3_ENST00000348069.2_Silent_p.S96S|NLRP3_ENST00000336119.3_Silent_p.S96S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	96					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTTTAGGTTCAGATAATGCAC	0.428000													57	245					0	0	0.870114	0	0
PRDM9	56979	broad.mit.edu	37	5	23526760	23526760	+	Silent	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:23526760T>A	ENST00000296682.3	+	11	1745	c.1563T>A	c.(1561-1563)atT>atA	p.I521I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	521					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTCAAGAATTGCAAAAGTCA	0.428000										HNSCC(3;0.000094)			88	245					0	0	0.870114	0	0
XYLT1	64131	broad.mit.edu	37	16	17228543	17228543	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:17228543T>G	ENST00000261381.6	-	9	1898	c.1814A>C	c.(1813-1815)aAt>aCt	p.N605T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	605					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATTTCCTGATTCACCACGGC	0.542000													44	392					0	0	0.870114	0	0
CALB1	793	broad.mit.edu	37	8	91081231	91081231	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:91081231G>T	ENST00000265431.3	-	5	548	c.367C>A	c.(367-369)Ctt>Att	p.L123I	CALB1_ENST00000518457.1_Missense_Mutation_p.L66I	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	123	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTACCTTAAGCTCCTCAGTT	0.313000													30	86					1.06801e-11	1.25827e-11	0.740014	1	0
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473000													4	222					0	0	0.150653	0	0
ENPP2	5168	broad.mit.edu	37	8	120606014	120606014	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:120606014G>T	ENST00000427067.2	-	12	1227	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	ENPP2_ENST00000522826.1_Missense_Mutation_p.N353K|ENPP2_ENST00000259486.6_Missense_Mutation_p.N405K|ENPP2_ENST00000075322.6_Missense_Mutation_p.N353K			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	353				H -> R (in Ref. 1; AAA64785 and 5; ABW38316).	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAAAGATGACGTTGACACACC	0.388000													53	498					5.22555e-25	6.72848e-25	0.870114	1	0
NDRG2	57447	broad.mit.edu	37	14	21490276	21490276	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:21490276G>A	ENST00000556147.1	-	5	1229	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	NDRG2_ENST00000397856.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397858.1_Missense_Mutation_p.R97W|NDRG2_ENST00000397844.2_Missense_Mutation_p.R83W|NDRG2_ENST00000360463.3_Missense_Mutation_p.R83W|NDRG2_ENST00000397853.3_Missense_Mutation_p.R97W|NDRG2_ENST00000555158.1_Missense_Mutation_p.R83W|NDRG2_ENST00000397847.2_Missense_Mutation_p.R97W|NDRG2_ENST00000397851.2_Missense_Mutation_p.R97W|NDRG2_ENST00000298684.5_Missense_Mutation_p.R83W|NDRG2_ENST00000403829.3_Missense_Mutation_p.R93W|NDRG2_ENST00000397855.3_Missense_Mutation_p.R83W|NDRG2_ENST00000554143.1_Missense_Mutation_p.R83W|NDRG2_ENST00000554104.1_Missense_Mutation_p.R10W|NDRG2_ENST00000298687.5_Missense_Mutation_p.R97W|NDRG2_ENST00000553503.1_Missense_Mutation_p.R83W|NDRG2_ENST00000350792.3_Missense_Mutation_p.R83W			Q9UN36	NDRG2_HUMAN	NDRG family member 2	97					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACATGAACCCGCACAAAGTTC	0.483000													7	247					0	0	0.248553	0	0
RARB	5915	broad.mit.edu	37	3	25215902	25215902	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:25215902G>A	ENST00000404969.1	+	1	14	c.14G>A	c.(13-15)gGc>gAc	p.G5D				P10826	RARB_HUMAN	retinoic acid receptor, beta	5	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCACCAGCGGCCACGCATGT	0.547000													34	328					0	0	0.796494	0	0
ITGAX	3687	broad.mit.edu	37	16	31391671	31391671	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:31391671G>T	ENST00000268296.4	+	27	3266	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C	ITGAX_ENST00000562522.1_Missense_Mutation_p.G1049C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1049					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCCTGAAGGGCAACCTCAG	0.627000													10	11					7.48243e-07	8.27904e-07	0.335167	1	0
SELV	348303	broad.mit.edu	37	19	40009752	40009752	+	Silent	SNP	T	T	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:40009752T>A	ENST00000423711.1	+	6	1105	c.1005T>A	c.(1003-1005)atT>atA	p.I335I	SELV_ENST00000335426.4_Silent_p.I335I			P59797	SELV_HUMAN		335					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCAGAAAATTGTGAGCGTTA	0.597000													8	37					0	0	0.387290	0	0
CPVL	54504	broad.mit.edu	37	7	29112024	29112024	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:29112024A>G	ENST00000409850.1	-	12	1271	c.625T>C	c.(625-627)Tat>Cat	p.Y209H	CPVL_ENST00000265394.5_Missense_Mutation_p.Y209H|CPVL_ENST00000396276.3_Missense_Mutation_p.Y209H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	209					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCTGGCACATATTTCCCTGCA	0.398000													102	221					0	0	0.870114	0	0
TBX18	9096	broad.mit.edu	37	6	85466432	85466432	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:85466432A>G	ENST00000369663.5	-	4	1092	c.755T>C	c.(754-756)cTg>cCg	p.L252P	TBX18_ENST00000606784.1_Missense_Mutation_p.L94P|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	252					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTGGTCATCCAGTTCATTGTT	0.498000													16	34					0	0	0.557998	0	0
PMFBP1	83449	broad.mit.edu	37	16	72158693	72158693	+	Silent	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr16:72158693T>C	ENST00000537465.1	-	17	2735	c.2577A>G	c.(2575-2577)aaA>aaG	p.K859K	PMFBP1_ENST00000355636.6_Silent_p.K709K|PMFBP1_ENST00000537792.1_Silent_p.K20K|PMFBP1_ENST00000237353.10_Silent_p.K854K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	859										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGAGGTTCTCTTTTAAGGCGG	0.567000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	243					0	0	0.870114	0	0
FOXN3	1112	broad.mit.edu	37	14	89878562	89878562	+	Missense_Mutation	SNP	C	C	A	rs61754094		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:89878562C>A	ENST00000345097.4	-	2	375	c.259G>T	c.(259-261)Gtc>Ttc	p.V87F	FOXN3_ENST00000555353.1_Missense_Mutation_p.V87F|FOXN3_ENST00000557258.1_Missense_Mutation_p.V87F|FOXN3_ENST00000261302.5_Missense_Mutation_p.V87F	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	87					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGTCCTGGACGGGGCTGACA	0.597000													7	49					0.000157383	0.000165937	0.278610	1	0
CYTH2	9266	broad.mit.edu	37	19	48978152	48978152	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:48978152G>A	ENST00000427476.1	+	8	1054	c.754G>A	c.(754-756)Gac>Aac	p.D252N	CYTH2_ENST00000452733.2_Missense_Mutation_p.D252N	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	252					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGACGGGAATGACCTGACCCA	0.602000													7	130					0	0	0.278610	0	0
LEKR1	389170	broad.mit.edu	37	3	156742693	156742693	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:156742693C>A	ENST00000470811.1	+	12	1771	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	LEKR1_ENST00000356539.4_Missense_Mutation_p.Q450K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	114										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAAGAAAGAACAAGAGGAACT	0.303000													14	81					2.31682e-05	2.46958e-05	0.479597	1	0
HTR3C	170572	broad.mit.edu	37	3	183772676	183772676	+	Splice_Site	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:183772676G>T	ENST00000318351.1	+	2	268		c.e2+1			NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTGGGAGTGGTGAGACTTAG	0.537000													25	61					4.7796e-09	5.45437e-09	0.681144	1	0
DPPA2	151871	broad.mit.edu	37	3	109027099	109027099	+	Silent	SNP	A	A	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:109027099A>G	ENST00000478945.1	-	6	684	c.438T>C	c.(436-438)tgT>tgC	p.C146C		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	146						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTCCTCGAACATCGCTGTA	0.433000													13	69					0	0	0.411799	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170631	61170631	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:61170631G>T	ENST00000382771.4	+	7	1096	c.804G>T	c.(802-804)aaG>aaT	p.K268N		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	268					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CCAATGCCAAGGTCAAACTCT	0.388000													13	64					1.52009e-12	1.8129e-12	0.479597	1	0
CLMN	79789	broad.mit.edu	37	14	95670140	95670140	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:95670140C>A	ENST00000298912.4	-	9	1659	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	516						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCGTGGCGGGCTGTACTCTCT	0.463000													20	106					5.35267e-07	5.94514e-07	0.557998	1	0
MAGI2	9863	broad.mit.edu	37	7	77764363	77764363	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:77764363G>A	ENST00000354212.4	-	17	3259	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V	MAGI2_ENST00000419488.1_Silent_p.V988V|MAGI2_ENST00000522391.1_Silent_p.V1002V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1002	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCGAAGGGTGACACTAAGAC	0.557000													51	151					0	0	0.870114	0	0
SLC34A1	6569	broad.mit.edu	37	5	176815190	176815190	+	Splice_Site	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:176815190G>T	ENST00000324417.5	+	7	931	c.840_splice	c.e7+1	p.Q280_splice	SLC34A1_ENST00000512593.1_Splice_Site_p.Q280_splice	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	280					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATCATCCAGGTGACAGCAG	0.597000													6	36					3.59834e-05	3.82159e-05	0.217242	1	0
CSPP1	79848	broad.mit.edu	37	8	68092154	68092154	+	Silent	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:68092154T>C	ENST00000262210.5	+	26	3229	c.3198T>C	c.(3196-3198)gcT>gcC	p.A1066A	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.A721A|ARFGEF1_ENST00000520381.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1101						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGATAGTGCTTTTATTGGTG	0.289000													3	178					0	0	0.115264	0	0
MYO1A	4640	broad.mit.edu	37	12	57430774	57430774	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:57430774C>T	ENST00000442789.2	-	21	2444	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MYO1A_ENST00000544473.1_Silent_p.L557L|MYO1A_ENST00000300119.3_Silent_p.L719L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	719	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTTCGCATCAGTTGGTAGT	0.522000													23	190					0	0	0.717897	0	0
SSR1	6745	broad.mit.edu	37	6	7301603	7301603	+	Splice_Site	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:7301603T>C	ENST00000489567.1	-	4	334		c.e4-2		SSR1_ENST00000474597.1_Silent_p.A161A|SSR1_ENST00000534851.1_Silent_p.A134A|SSR1_ENST00000244763.4_Silent_p.A161A|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000462112.1_Silent_p.A161A|SSR1_ENST00000479365.1_Silent_p.A161A|SSR1_ENST00000397511.2_Silent_p.A161A			P43307	SSRA_HUMAN	signal sequence receptor, alpha						cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCATGGGCTCTGCAGGAATGA	0.423000													4	124					0	0	0.184627	0	0
SGPL1	8879	broad.mit.edu	37	10	72633343	72633343	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:72633343C>G	ENST00000373202.3	+	12	1495	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	432					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TTCCTCAAGTCAGAGTATGTG	0.507000													4	336					0	0	0.184627	0	0
DLG2	1740	broad.mit.edu	37	11	83177818	83177818	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:83177818G>A	ENST00000398309.2	-	21	2817	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	DLG2_ENST00000280241.8_Missense_Mutation_p.R822W|DLG2_ENST00000376106.3_Missense_Mutation_p.R247W|DLG2_ENST00000537455.1_Missense_Mutation_p.R533W|DLG2_ENST00000404783.3_Missense_Mutation_p.R261W|DLG2_ENST00000330014.6_Missense_Mutation_p.R704W|DLG2_ENST00000524982.1_Missense_Mutation_p.R779W|DLG2_ENST00000531015.1_Missense_Mutation_p.R750W|DLG2_ENST00000418306.2_Missense_Mutation_p.R662W|DLG2_ENST00000376104.2_Missense_Mutation_p.R888W|DLG2_ENST00000532653.1_Missense_Mutation_p.R765W|DLG2_ENST00000426717.2_Missense_Mutation_p.R247W|DLG2_ENST00000543673.1_Missense_Mutation_p.R888W	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	783	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTTGTAACCGCTTGATAGCA	0.428000													47	224					0	0	0.870114	0	0
CDH2	1000	broad.mit.edu	37	18	25593716	25593716	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr18:25593716C>T	ENST00000269141.3	-	3	753	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CDH2_ENST00000399380.3_Silent_p.E79E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	110					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCCTGGGTCTCTTTGTCTT	0.463000													90	643					0	0	0.870114	0	0
CACNB2	783	broad.mit.edu	37	10	18827166	18827166	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:18827166G>T	ENST00000396576.2	+	12	1696	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	CACNB2_ENST00000324631.7_Missense_Mutation_p.A454S|CACNB2_ENST00000377328.1_Missense_Mutation_p.A204S|CACNB2_ENST00000377329.4_Missense_Mutation_p.A400S|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.A426S|CACNB2_ENST00000377331.2_Missense_Mutation_p.A402S|CACNB2_ENST00000352115.6_Missense_Mutation_p.A430S|CACNB2_ENST00000377315.4_Missense_Mutation_p.A406S|CACNB2_ENST00000377319.3_Missense_Mutation_p.A361S	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	454					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGCACCTTGCCGACTATCT	0.557000													5	272					1.23904e-05	1.34037e-05	0.184627	1	0
PIK3CB	5291	broad.mit.edu	37	3	138383955	138383955	+	Silent	SNP	C	C	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr3:138383955C>T	ENST00000477593.1	-	19	2668	c.2595G>A	c.(2593-2595)ctG>ctA	p.L865L	PIK3CB_ENST00000289153.2_Silent_p.L865L|PIK3CB_ENST00000544716.1_Silent_p.L316L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	865	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGCTACTGTTCAGCTGAATGT	0.438000													4	93					0	0	0.150653	0	0
DPYS	1807	broad.mit.edu	37	8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:105436539T>C	ENST00000351513.2	-	7	1303	c.1171A>G	c.(1171-1173)Aga>Gga	p.R391G		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373000													4	352					0	0	0.150653	0	0
TULP4	56995	broad.mit.edu	37	6	158870115	158870115	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:158870115G>T	ENST00000367097.3	+	4	1988	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	TULP4_ENST00000367094.2_Missense_Mutation_p.G211C	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	211					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAGTCAGACGGTGTCCTCGG	0.597000													38	50					1.42033e-22	1.79703e-22	0.796494	1	0
FSCB	84075	broad.mit.edu	37	14	44975840	44975840	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:44975840A>C	ENST00000340446.4	-	1	642	c.351T>G	c.(349-351)atT>atG	p.I117M		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	117						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGTTTGGTGGAATTTCTACAT	0.433000													24	393					0	0	0.654019	0	0
SEL1L	6400	broad.mit.edu	37	14	81943369	81943369	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr14:81943369G>A	ENST00000336735.4	-	21	2448	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	778	Mediates retention to the endoplasmic reticulum.|Pro-rich.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GGAGCTGGCCGTGGCCCTGGA	0.582000													33	115					0	0	0.788014	0	0
LCE1C	353133	broad.mit.edu	37	1	152777925	152777925	+	Silent	SNP	G	G	A			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:152777925G>A	ENST00000368768.1	-	2	80	c.30C>T	c.(28-30)tgC>tgT	p.C10C	LCE1C_ENST00000607093.1_Silent_p.C10C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	10					keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gagggGGCTGGCACTGCTGCT	0.617000													6	93					0	0	0.335167	0	0
TNS1	7145	broad.mit.edu	37	2	218682896	218682896	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:218682896G>T	ENST00000171887.4	-	24	4299	c.3847C>A	c.(3847-3849)Ctg>Atg	p.L1283M	TNS1_ENST00000430930.1_Missense_Mutation_p.L1262M|TNS1_ENST00000419504.1_Missense_Mutation_p.L1270M	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1283						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCGGAGGCCAGGTTGCCTTGG	0.667000													5	110					0.184627	0.185264	0.184627	1	0
CDK18	5129	broad.mit.edu	37	1	205497011	205497013	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr1:205497011_205497013delCAA	ENST00000360066.2	+	9	1120_1122	c.819_821delCAA	c.(817-822)atc>at	p.IN273del	CDK18_ENST00000506784.1_In_Frame_Del_p.IN303del|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_In_Frame_Del_p.IN273del	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	271	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACCTGCTCATCAACGAGAGGGGG	0.645													15	286	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141115623	141115624	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:141115623_141115624insT	ENST00000389484.3	-	74	12290_12291	c.11319_11320insA	c.(11317-11322)aagcatfs	p.H3774fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3774	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTAC	0.386										TSP Lung(27;0.18)			32	381	---	---	---	---					
AC114765.1	0	broad.mit.edu	37	2	221202854	221202857	+	RNA	DEL	ACTC	ACTC	-	rs35917650		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr2:221202854_221202857delACTC	ENST00000432993.1	+	0	427																											ATTTATTCAAACTCACTCActtcc	0.373													2	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176710903	176710903	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr5:176710903delT	ENST00000439151.2	+	20	6170	c.6125delT	c.(6124-6126)ctfs	p.L2042fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.L1939fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.L1773fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.L1773fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2042	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTGTAGGCCTTTTTGCACTA	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	692	---	---	---	---					
ZSCAN16-AS1	100129195	broad.mit.edu	37	6	28091430	28091431	+	RNA	DEL	CA	CA	-	rs60194447		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr6:28091430_28091431delCA	ENST00000600652.1	-	0	746				RP1-265C24.9_ENST00000602810.1_RNA	NR_103455.1																						gcctccccagcacacacacaca	0.386													3	2	---	---	---	---					
OR2A25	392138	broad.mit.edu	37	7	143771314	143771315	+	Translation_Start_Site	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr7:143771314_143771315insG	ENST00000408898.2	+	0	40_41					NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TACAGGGAAATGGGGGGAAATC	0.441													7	378	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)ccacacfs	p.H291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609													7	57	---	---	---	---					
VCPIP1	80124	broad.mit.edu	37	8	67579088	67579089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:67579088_67579089insC	ENST00000310421.4	-	1	363_364	c.105_106insG	c.(103-108)ggttttfs	p.GF35fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	35					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	p.L36fs*51(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGCTTCAAAAGCCCCCCCGAAG	0.678													7	24	---	---	---	---					
CPSF1	29894	broad.mit.edu	37	8	145621958	145621959	+	Splice_Site	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr8:145621958_145621959insG	ENST00000349769.3	-	25	2777		c.e25-2			NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTGAGGGACCTGGGGGGGAACC	0.644													7	74	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													7	208	---	---	---	---					
RP13-16H11.2	0	broad.mit.edu	37	10	26958525	26958527	+	RNA	DEL	AAG	AAG	-	rs61245710		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr10:26958525_26958527delAAG	ENST00000446557.1	-	0	44																											aagaaaagaaaagaagaaGAATC	0.335													3	4	---	---	---	---					
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:7672936_7672937insC	ENST00000299492.4	+	23	2685_2686	c.2297_2298insC	c.(2296-2298)accfs	p.T766fs	PPFIBP2_ENST00000528883.1_Frame_Shift_Ins_p.T654fs|PPFIBP2_ENST00000533792.1_Frame_Shift_Ins_p.T608fs|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Frame_Shift_Ins_p.T623fs	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766	SAM 3.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAAA	0.554													7	190	---	---	---	---					
MYOD1	4654	broad.mit.edu	37	11	17741563	17741564	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:17741563_17741564insG	ENST00000250003.3	+	1	449_450	c.234_235insG	c.(232-237)gaagcafs	p.A79fs		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	79					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CACGTGAGGACGAGCATGTGCG	0.728													2	4	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													8	223	---	---	---	---					
OR4D9	390199	broad.mit.edu	37	11	59282705	59282706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr11:59282705_59282706insG	ENST00000329328.3	+	1	320_321	c.320_321insG	c.(319-321)cggfs	p.R107fs		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTCCACCTTCTGGGGGGAGCAG	0.485													7	200	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6964572	6964573	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr12:6964572_6964573insG	ENST00000229268.8	+	2	171_172	c.119_120insG	c.(118-120)gggfs	p.G40fs	USP5_ENST00000389231.5_Frame_Shift_Ins_p.G40fs	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	40					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGGAGTCTGAGGGGGGCCTCT	0.505													7	478	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	8	---	---	---	---					
DGKH	160851	broad.mit.edu	37	13	42784793	42784795	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr13:42784793_42784795delAAC	ENST00000379274.2	+	24	2927_2929	c.2498_2500delAAC	c.(2497-2502)aca>a	p.KP833del	DGKH_ENST00000261491.4_In_Frame_Del_p.KP969del|DGKH_ENST00000337343.4_In_Frame_Del_p.KP969del|DGKH_ENST00000540693.1_In_Frame_Del_p.KP969del|DGKH_ENST00000538674.1_In_Frame_Del_p.KP724del|DGKH_ENST00000536612.1_In_Frame_Del_p.KP833del|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	969					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GATTCTGGTAAACCAGTTCTCCG	0.443													51	255	---	---	---	---					
DAOA-AS1	282706	broad.mit.edu	37	13	106148111	106148114	+	RNA	DEL	CTTC	CTTC	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr13:106148111_106148114delCTTC	ENST00000448407.1	-	0	100					NR_040247.1																						GGATCTTTCTcttccttccttcct	0.353													4	9	---	---	---	---					
LMAN1L	79748	broad.mit.edu	37	15	75108812	75108813	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr15:75108812_75108813insG	ENST00000309664.5	+	3	514_515	c.375_376insG	c.(373-378)ctggggfs	p.LG125fs	LMAN1L_ENST00000379709.3_Frame_Shift_Ins_p.LG125fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	125	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTCTGTCCTTGGGGGGCTGGC	0.673													9	193	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)cccfs	p.P676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	145	---	---	---	---					
HOOK2	29911	broad.mit.edu	37	19	12880875	12880875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:12880875delC	ENST00000264827.5	-	11	1094	c.924delG	c.(922-924)ggfs	p.G308fs	HOOK2_ENST00000397668.3_Frame_Shift_Del_p.G308fs|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	308	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCAGCTGCCCAGCACGCT	0.697													2	4	---	---	---	---					
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678													7	101	---	---	---	---					
SIGLEC5	8778	broad.mit.edu	37	19	52133550	52133551	+	Splice_Site	INS	-	-	C			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr19:52133550_52133551insC	ENST00000570106.2	-	1	37		c.e1+1		SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Splice_Site|SIGLEC5_ENST00000429354.3_Intron	NM_003830.3	NP_003821.1	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5						cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CAGCTCACTCACCCCCCCACAG	0.673													2	4	---	---	---	---					
SYNJ1	8867	broad.mit.edu	37	21	34038826	34038829	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chr21:34038826_34038829delGTTG	ENST00000382499.2	-	16	1982_1985	c.1983_1986delCAAC	c.(1981-1986)gafs	p.DN661fs	SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.DN617fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.DN622fs|SYNJ1_ENST00000322229.7_Frame_Shift_Del_p.DN622fs|SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.DN661fs	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	622	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCACATACTTGTTGTCTCTGGAGA	0.387													13	376	---	---	---	---					
PTCHD1-AS	100873065	broad.mit.edu	37	X	22875403	22875403	+	RNA	DEL	T	T	-			TCGA-17-Z050-01A-01W-0747-08	TCGA-17-Z050-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d086dd38-a9e0-466c-b1e5-9a4a879abd55	c5ff02e4-1261-4a6c-8972-3f204bce1c49	g.chrX:22875403delT	ENST00000455399.1	-	0	178																											TGCCTGTCCGTTTTTCTTttc	0.473													3	6	---	---	---	---					
