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
GNL3L	54552	broad.mit.edu	37	X	54569430	54569430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:54569430G>A	ENST00000336470.4	+	6	488	c.349G>A	c.(349-351)Gac>Aac	p.D117N	GNL3L_ENST00000360845.2_Missense_Mutation_p.D117N|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	117					ribosome biogenesis	nucleolus	GTP binding	p.D117N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCAGCTGGATGACGAGGCCAC	0.488000													10	11					0	0	0.335167	0	0
NRXN3	9369	broad.mit.edu	37	14	80328189	80328189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:80328189C>T	ENST00000281127.7	+	6	2060	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	NRXN3_ENST00000554719.1_Missense_Mutation_p.T1023M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.T599M|NRXN3_ENST00000335750.5_Missense_Mutation_p.T1023M|NRXN3_ENST00000428277.2_Missense_Mutation_p.T421M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	599					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGACGAGACGCGGAACTAC	0.562000													8	18					0	0	0.278610	0	0
GALNT13	114805	broad.mit.edu	37	2	155102432	155102432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:155102432G>A	ENST00000392825.3	+	7	1361	c.794G>A	c.(793-795)cGc>cAc	p.R265H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R265H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	265						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTGAATTTCCGCTGGTATCCT	0.403000													22	47					0	0	0.624587	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764562	205764562	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:205764562T>A	ENST00000367137.3	-	9	2131	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	373						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAGGAAGGTGGAGATGCGG	0.587000													19	29					0	0	0.575678	0	0
REV3L	5980	broad.mit.edu	37	6	111695451	111695451	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111695451T>C	ENST00000435970.1	-	15	4689	c.3873A>G	c.(3871-3873)gcA>gcG	p.A1291A	REV3L_ENST00000368805.1_Silent_p.A1369A|REV3L_ENST00000368802.3_Silent_p.A1369A|REV3L_ENST00000358835.3_Silent_p.A1369A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1369					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGTATTCTGTGCTACCTGAG	0.303000								DNA polymerases (catalytic subunits)					38	68					0	0	0.812448	0	0
POSTN	10631	broad.mit.edu	37	13	38137487	38137487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:38137487C>T	ENST00000379747.4	-	23	2611	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	POSTN_ENST00000541481.1_Missense_Mutation_p.E745K|POSTN_ENST00000541179.1_Missense_Mutation_p.E777K|POSTN_ENST00000379749.4_Missense_Mutation_p.E804K|POSTN_ENST00000379743.4_Missense_Mutation_p.E805K|POSTN_ENST00000379742.4_Missense_Mutation_p.E775K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	832					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAACGACCTTCCCTTAATCGT	0.303000													16	39					0	0	0.608945	0	0
KRT5	3852	broad.mit.edu	37	12	52909018	52909018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:52909018A>T	ENST00000252242.4	-	9	1871	c.1481T>A	c.(1480-1482)gTc>gAc	p.V494D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	494	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCTTGTGACAACAGCTGC	0.587000													12	26					0	0	0.435327	0	0
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587000													9	25					0	0	0.307466	0	0
TTC5	91875	broad.mit.edu	37	14	20768886	20768886	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:20768886C>A	ENST00000258821.3	-	3	332	c.276G>T	c.(274-276)ctG>ctT	p.L92L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	92					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CAGCCTTTGACAGAAGCTCCT	0.532000													62	64					4.17052e-40	5.07413e-40	0.870114	1	0
NLRP7	199713	broad.mit.edu	37	19	55450643	55450643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55450643A>T	ENST00000446217.1	-	6	2030	c.1628T>A	c.(1627-1629)cTg>cAg	p.L543Q	NLRP7_ENST00000340844.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.L515Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.L515Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	515							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TACTTGAATCAGGTCGGGGTT	0.567000													28	66					0	0	0.760397	0	0
CYFIP2	26999	broad.mit.edu	37	5	156738742	156738742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156738742G>T	ENST00000347377.6	+	11	1494	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CYFIP2_ENST00000521420.1_Missense_Mutation_p.D329Y|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D280Y|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D29Y|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D159Y|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D355Y|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D355Y	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	355					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCGGGATGACCACATCCG	0.612000													5	10					5.9392e-07	6.43903e-07	0.217242	1	0
ABRA	137735	broad.mit.edu	37	8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:107782189C>A	ENST00000311955.3	-	1	284	c.230G>T	c.(229-231)aGt>aTt	p.S77I		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	77					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.S77I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572000													31	89					3.11337e-16	3.66575e-16	0.769981	1	0
PIGN	23556	broad.mit.edu	37	18	59742026	59742026	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:59742026C>A	ENST00000357637.5	-	29	3020	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	PIGN_ENST00000400334.3_Missense_Mutation_p.D869Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	869					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCATAATGTCTGATATGACG	0.318000													13	17					1.3612e-06	1.46129e-06	0.479597	1	0
C1orf87	127795	broad.mit.edu	37	1	60503714	60503714	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:60503714T>A	ENST00000371201.3	-	6	920	c.813A>T	c.(811-813)aaA>aaT	p.K271N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	271							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCAGCTGCTTTATTTTGCT	0.383000													19	38					0	0	0.575678	0	0
CSMD1	64478	broad.mit.edu	37	8	2820134	2820134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2820134G>A	ENST00000520002.1	-	62	10040	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3162L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3162	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493000													9	28					0	0	0.335167	0	0
MYOM2	9172	broad.mit.edu	37	8	2024315	2024315	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:2024315G>A	ENST00000262113.4	+	11	1356	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622000													10	18					0	0	0.361761	0	0
C14orf105	55195	broad.mit.edu	37	14	57938276	57938276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:57938276G>T	ENST00000216445.3	-	6	824	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q270K|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q229K	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	230										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTCACTGCTTGATGTTTCAAA	0.358000													12	21					1.61879e-10	1.83687e-10	0.411799	1	0
CAPN3	825	broad.mit.edu	37	15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:42693865C>T	ENST00000397163.3	+	11	1600	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	CAPN3_ENST00000356316.3_Missense_Mutation_p.R374C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.R413C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R461C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R461C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	461	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.R461C(1)|p.R374C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582000													7	24					0	0	0.278610	0	0
TROAP	10024	broad.mit.edu	37	12	49717991	49717991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49717991C>T	ENST00000380327.5	+	4	491	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000257909.3_Intron|TROAP_ENST00000551245.1_Intron	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	550					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCCTTTCCTCCAGCAAAATG	0.517000													14	42					0	0	0.435327	0	0
COBL	23242	broad.mit.edu	37	7	51287530	51287530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:51287530C>G	ENST00000395542.2	-	2	337	c.153G>C	c.(151-153)ttG>ttC	p.L51F	COBL_ENST00000441453.1_Missense_Mutation_p.L51F|COBL_ENST00000265136.7_Missense_Mutation_p.L51F|COBL_ENST00000395540.2_Missense_Mutation_p.L51F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	51										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCATGCGAACCAAGTTCTGCT	0.642000													5	72					0	0	0.184627	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712386	16712386	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:16712386T>C	ENST00000246071.6	+	2	255	c.39T>C	c.(37-39)aaT>aaC	p.N13N	SNRPB2_ENST00000478522.1_3'UTR|SNRPB2_ENST00000377943.5_Silent_p.N13N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	13	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATCAACAATATGAATGACA	0.274000													39	102					0	0	0.864702	0	0
CUBN	8029	broad.mit.edu	37	10	16949520	16949520	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:16949520G>T	ENST00000377833.4	-	49	7757	c.7692C>A	c.(7690-7692)tcC>tcA	p.S2564S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2564	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTTCACTGGAGGTATAGG	0.463000													11	48					4.3838e-07	4.77638e-07	0.435327	1	0
SPAG6	9576	broad.mit.edu	37	10	22676869	22676869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:22676869T>A	ENST00000376603.2	+	6	1166	c.1024T>A	c.(1024-1026)Tac>Aac	p.Y342N	SPAG6_ENST00000538630.1_Missense_Mutation_p.Y241N|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.Y266N|SPAG6_ENST00000376624.3_Missense_Mutation_p.Y266N|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	266					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CAAGGATGAATACGTGAAGAA	0.373000													19	39					0	0	0.575678	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891296	155891296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:155891296C>T	ENST00000368320.3	-	10	1161	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G379E|KIAA0907_ENST00000368319.3_Silent_p.R345R			Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTGGTACTCCGTAGGGAGG	0.517000													25	63					0	0	0.639603	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643246	156643246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:156643246G>A	ENST00000296518.7	+	9	1982	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M333I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M591I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M591I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	591	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGTTAAAATGCCCCGTTACT	0.423000													115	129					0	0	0.870114	0	0
CCDC40	55036	broad.mit.edu	37	17	78013909	78013909	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:78013909G>T	ENST00000397545.4	+	3	419	c.392G>T	c.(391-393)aGt>aTt	p.S131I	CCDC40_ENST00000374877.3_Missense_Mutation_p.S131I|CCDC40_ENST00000374876.4_Missense_Mutation_p.S131I|CCDC40_ENST00000269318.5_Missense_Mutation_p.S131I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	131					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)			GCATACGATAGTGTTAGCGGG	0.567000													5	46					1.024e-07	1.13261e-07	0.184627	1	0
LILRA2	11027	broad.mit.edu	37	19	55086773	55086773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:55086773C>T	ENST00000251377.3	+	6	839	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	LILRA2_ENST00000251376.3_Missense_Mutation_p.P236S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P224S|LILRA2_ENST00000391738.3_Missense_Mutation_p.P236S|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TATGGTGGCCCCCGGGGAGAG	0.567000													47	83					0	0	0.870114	0	0
FAM47C	442444	broad.mit.edu	37	X	37028185	37028185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028185T>C	ENST00000358047.3	+	1	1754	c.1702T>C	c.(1702-1704)Tac>Cac	p.Y568H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	568										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCGGATGTACAGTCTCCG	0.647000													25	33					0	0	0.717897	0	0
BTBD2	55643	broad.mit.edu	37	19	1993106	1993106	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:1993106C>T	ENST00000255608.4	-	3	613	c.597G>A	c.(595-597)aaG>aaA	p.K199K	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	199						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCGCGTACTTCTTGGCGG	0.632000													5	24					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170063445	170063445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:170063445C>T	ENST00000263816.3	-	39	7070	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2262					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCATTGATACGAATCCTTGC	0.433000													35	107					0	0	0.769981	0	0
GBA3	57733	broad.mit.edu	37	4	22749519	22749519	+	RNA	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:22749519T>C	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGAAGAAAATGATCAAAGGC	0.403000													8	6					0	0	0.278610	0	0
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													2	13					0	0	0.150653	0	0
DBF4B	80174	broad.mit.edu	37	17	42828265	42828265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:42828265G>A	ENST00000315005.3	+	14	1630	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	498					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCTTCCCTGAAGCCAGACC	0.587000													20	105					0	0	0.575678	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419318	48419318	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:48419318G>A	ENST00000376771.4	+	6	2363	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.E420E	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	674						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCAGTCAGAGGTGTGGGACT	0.597000													14	8					0	0	0.479597	0	0
ZNF700	90592	broad.mit.edu	37	19	12060067	12060067	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12060067A>G	ENST00000482090.1	+	3	1592	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.R410G|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATATCATGAAAGGATTCACAC	0.443000													22	62					0	0	0.639603	0	0
FXR2	9513	broad.mit.edu	37	17	7495898	7495898	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7495898T>C	ENST00000250113.7	-	15	2083	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	583						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GATTACGACGTTGAGGTCTTG	0.542000													49	125					0	0	0.870114	0	0
ZFHX3	463	broad.mit.edu	37	16	72993956	72993956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:72993956G>A	ENST00000268489.5	-	2	761	c.89C>T	c.(88-90)aCc>aTc	p.T30I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	30					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGAGGTGGGTGCTGTTGAG	0.627000													17	59					0	0	0.557998	0	0
TSPYL5	85453	broad.mit.edu	37	8	98290055	98290055	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:98290055C>A	ENST00000322128.3	-	1	121	c.18G>T	c.(16-18)cgG>cgT	p.R6R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	6					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACTTTCGACCCCGACTTCGGC	0.706000													7	6					3.09899e-07	3.39339e-07	0.307466	1	0
ANAPC1	64682	broad.mit.edu	37	2	112608465	112608465	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:112608465C>A	ENST00000341068.3	-	14	2310	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	513					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCTGGCAGTCCAGGAATAAA	0.398000													16	46					5.01169e-05	5.17717e-05	0.520397	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21358894	21358894	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:21358894G>C	ENST00000256958.2	+	11	1520	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	475	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCAGTCTGTGGAAACAATGGA	0.378000													17	110					0	0	0.520397	0	0
CST5	1473	broad.mit.edu	37	20	23860167	23860167	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23860167G>A	ENST00000304710.4	-	1	220	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	49						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGATGGCAAAGTCCAGGGCAC	0.577000													59	130					0	0	0.870114	0	0
EPHA3	2042	broad.mit.edu	37	3	89390133	89390133	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:89390133T>G	ENST00000336596.2	+	4	1107	c.882T>G	c.(880-882)agT>agG	p.S294R	EPHA3_ENST00000494014.1_Missense_Mutation_p.S294R|EPHA3_ENST00000452448.2_Missense_Mutation_p.S294R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	294	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCCTCACAGTTCTACTCAGG	0.443000										TSP Lung(6;0.00050)			30	84					0	0	0.717897	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054661	72054661	+	Silent	SNP	C	C	T	rs112129340		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:72054661C>T	ENST00000555818.1	+	2	420	c.72C>T	c.(70-72)gaC>gaT	p.D24D	SIPA1L1_ENST00000358550.2_Silent_p.D24D|SIPA1L1_ENST00000381232.3_Silent_p.D24D	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	24					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTGGCACAGACGGCACCCCCA	0.522000													48	93					0	0	0.864702	0	0
LRRC30	339291	broad.mit.edu	37	18	7231433	7231433	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:7231433G>A	ENST00000383467.2	+	1	311	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCGTGGTCCTGAACTTGTGCG	0.577000													10	29					0	0	0.361761	0	0
ADCY2	108	broad.mit.edu	37	5	7717334	7717334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:7717334G>A	ENST00000338316.4	+	12	1776	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.G383R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	563					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATTGATGGGATTAATGC	0.308000													22	62					0	0	0.654019	0	0
PCYT1A	5130	broad.mit.edu	37	3	195966589	195966589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:195966589C>A	ENST00000292823.2	-	9	898	c.726G>T	c.(724-726)ttG>ttT	p.L242F	PCYT1A_ENST00000419333.1_Missense_Mutation_p.L242F|PCYT1A_ENST00000431016.1_Missense_Mutation_p.L242F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	242	Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCCTCTCCTGCAAGTGGTATT	0.368000													22	82					4.16121e-05	4.31898e-05	0.639603	1	0
CDH6	1004	broad.mit.edu	37	5	31316322	31316322	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:31316322A>G	ENST00000265071.2	+	9	1663	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	CDH6_ENST00000514738.1_Silent_p.P411P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATAATCCAAAGCAAAGTA	0.368000													12	44					0	0	0.457914	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073401	40073401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:40073401G>T	ENST00000336649.4	+	33	4928	c.4928G>T	c.(4927-4929)gGg>gTg	p.G1643V	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1637V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1637V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1602V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1602V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1637					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCTCGGGGTGGAGCTC	0.682000													3	6					0.000602214	0.000619178	0.184627	1	0
COL4A3	1285	broad.mit.edu	37	2	228148997	228148997	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:228148997A>G	ENST00000396578.3	+	34	2979	c.2817A>G	c.(2815-2817)aaA>aaG	p.K939K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	939	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGAGATAAAGGAAATCCCG	0.502000													13	30					0	0	0.411799	0	0
CDX1	1044	broad.mit.edu	37	5	149562461	149562461	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:149562461G>A	ENST00000231656.8	+	2	658	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATCTGGGGCTCACTGAAC	0.562000													40	81					0	0	0.847076	0	0
AGMO	392636	broad.mit.edu	37	7	15470671	15470671	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:15470671T>A	ENST00000342526.3	-	4	641	c.472A>T	c.(472-474)Aca>Tca	p.T158S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	158					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTCAGTGCTGTGGATAAGTTA	0.358000													38	84					0	0	0.859065	0	0
MYLK	4638	broad.mit.edu	37	3	123512632	123512632	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:123512632C>T	ENST00000360772.3	-	5	435	c.57G>A	c.(55-57)gtG>gtA	p.V19V	MYLK_ENST00000359169.1_Silent_p.V19V|MYLK_ENST00000346322.5_Silent_p.V19V|MYLK_ENST00000475616.1_Silent_p.V19V|MYLK_ENST00000360304.3_Silent_p.V19V			Q15746	MYLK_HUMAN	myosin light chain kinase	19					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGAGGGATCCACACTGAGGG	0.532000													11	36					0	0	0.435327	0	0
PTK2	5747	broad.mit.edu	37	8	141900746	141900746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:141900746C>A	ENST00000522684.1	-	3	320	c.91G>T	c.(91-93)Ggt>Tgt	p.G31C	PTK2_ENST00000517887.1_Missense_Mutation_p.G75C|PTK2_ENST00000521059.1_Missense_Mutation_p.G31C|PTK2_ENST00000520892.1_Missense_Mutation_p.G31C|PTK2_ENST00000519419.1_Missense_Mutation_p.G75C|PTK2_ENST00000395218.2_Missense_Mutation_p.G31C|PTK2_ENST00000340930.3_Missense_Mutation_p.G31C|PTK2_ENST00000535192.1_Missense_Mutation_p.G31C|PTK2_ENST00000519881.1_Missense_Mutation_p.G31C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	31					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCATTGCACCAGGAGAACGT	0.443000													27	76					1.1804e-14	1.36776e-14	0.667858	1	0
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443000													16	62					0	0	0.520397	0	0
THSD7A	221981	broad.mit.edu	37	7	11676534	11676534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:11676534C>A	ENST00000423059.3	-	2	496	c.245G>T	c.(244-246)aGg>aTg	p.R82M	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	82	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACACAGCCCTCGTTTGGAT	0.463000										HNSCC(18;0.044)			30	81					2.28855e-06	2.44484e-06	0.796494	1	0
LAMA5	3911	broad.mit.edu	37	20	60893707	60893707	+	Splice_Site	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:60893707C>A	ENST00000252999.3	-	53	7109		c.e53-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGCCAGCACTAGCCGAGAC	0.677000													18	23					5.3912e-06	5.70374e-06	0.539581	1	0
DIAPH3	81624	broad.mit.edu	37	13	60485887	60485887	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:60485887A>T	ENST00000400324.4	-	20	2569	c.2349T>A	c.(2347-2349)ccT>ccA	p.P783P	DIAPH3_ENST00000400330.1_Silent_p.P783P|DIAPH3_ENST00000377908.2_Silent_p.P772P|DIAPH3_ENST00000400320.1_Silent_p.P737P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.P783P|DIAPH3_ENST00000400319.1_Silent_p.P713P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	783	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAACTGCTCAGGTTCACATA	0.348000													30	56					0	0	0.750413	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587184	111587184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:111587184C>A	ENST00000368847.4	+	4	772	c.419C>A	c.(418-420)gCt>gAt	p.A140D		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	140					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACTGCTAGCTAAACTGGCT	0.507000													5	47					1.23904e-05	1.29214e-05	0.184627	1	0
ALDH1A1	216	broad.mit.edu	37	9	75531989	75531989	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:75531989C>T	ENST00000297785.3	-	9	936	c.882G>A	c.(880-882)ggG>ggA	p.G294G	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	294					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTAGAATACCCCATGGTGTG	0.378000													60	101					0	0	0.870114	0	0
LDHD	197257	broad.mit.edu	37	16	75148731	75148731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:75148731G>T	ENST00000300051.4	-	4	509	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	LDHD_ENST00000450168.2_Missense_Mutation_p.P155T	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	155	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTACCCACGGGAAACCAGAGG	0.657000													9	32					1.76689e-08	1.96421e-08	0.335167	1	0
GALNT8	26290	broad.mit.edu	37	12	4854710	4854710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:4854710G>A	ENST00000252318.2	+	5	1313	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	326						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCAGTTGATGGGTTTAACTG	0.493000													11	49					0	0	0.411799	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744360	31744360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:31744360C>A	ENST00000399889.2	-	1	197	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	58	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCAGATCTCCTGACAGCCC	0.612000													12	53					0.000978159	0.000996357	0.387290	1	0
CYFIP2	26999	broad.mit.edu	37	5	156721850	156721850	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:156721850G>C	ENST00000347377.6	+	4	697	c.266G>C	c.(265-267)tGt>tCt	p.C89S	CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C89S|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C89S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGCAGCTGTTCCCGGGCC	0.537000													11	18					0	0	0.411799	0	0
UTRN	7402	broad.mit.edu	37	6	144844227	144844227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:144844227G>T	ENST00000367545.3	+	40	5809	c.5809G>T	c.(5809-5811)Gaa>Taa	p.E1937*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1937					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCATCCTTGAAGCCTCTGG	0.383000													19	56					2.5808e-16	3.05511e-16	0.539581	1	0
TTC37	9652	broad.mit.edu	37	5	94852669	94852669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:94852669G>A	ENST00000358746.2	-	22	2685	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	796							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTGCTGCCTGTTTCTGCTAG	0.333000													7	21					0	0	0.248553	0	0
CCDC40	55036	broad.mit.edu	37	17	78013907	78013907	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:78013907T>G	ENST00000397545.4	+	3	417	c.390T>G	c.(388-390)gaT>gaG	p.D130E	CCDC40_ENST00000374877.3_Missense_Mutation_p.D130E|CCDC40_ENST00000374876.4_Missense_Mutation_p.D130E|CCDC40_ENST00000269318.5_Missense_Mutation_p.D130E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	130					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)			AGGCATACGATAGTGTTAGCG	0.562000													5	48					0	0	0.184627	0	0
FAM102A	399665	broad.mit.edu	37	9	130707135	130707135	+	Missense_Mutation	SNP	G	G	T	rs139831125		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:130707135G>T	ENST00000373095.1	-	9	1335	c.960C>A	c.(958-960)gaC>gaA	p.D320E	FAM102A_ENST00000373084.4_Missense_Mutation_p.D178E|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	320										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCGCGTGTCGTCCACCCAGG	0.617000													10	34					7.48243e-07	8.07218e-07	0.335167	1	0
SSPO	23145	broad.mit.edu	37	7	149493814	149493814	+	RNA	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:149493814G>A	ENST00000378016.2	+	0	6810							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGTTGCTGCCTGAGG	0.652000													4	10					0	0	0.150653	0	0
CST11	140880	broad.mit.edu	37	20	23433318	23433318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:23433318G>A	ENST00000377009.3	-	1	164	c.131C>T	c.(130-132)gCg>gTg	p.A44V	CST11_ENST00000377007.3_Missense_Mutation_p.A44V	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	44					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTGTCCTTCGCATAGTTTTC	0.483000													45	113					0	0	0.870114	0	0
MYH4	4622	broad.mit.edu	37	17	10369620	10369620	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:10369620G>A	ENST00000255381.2	-	4	428	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	106	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACGCTCTTTGAGGTTATACA	0.453000													34	92					0	0	0.796494	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	52					0	0	0.150653	0	0
ZNF845	91664	broad.mit.edu	37	19	53855800	53855800	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:53855800T>C	ENST00000458035.1	+	4	1989	c.1872T>C	c.(1870-1872)gtT>gtC	p.V624V	ZNF845_ENST00000595091.1_Silent_p.V624V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTGCAGTTCATTGGCGAA	0.363000													2	11					0	0	0.115264	0	0
LPHN3	23284	broad.mit.edu	37	4	62679537	62679537	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:62679537T>A	ENST00000512091.1	+	8	1953	c.1206T>A	c.(1204-1206)caT>caA	p.H402Q	LPHN3_ENST00000514591.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H470Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	402					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ggcaggcacatcatggacaag	0.353000													6	53					0	0	0.248553	0	0
ARAP2	116984	broad.mit.edu	37	4	36122929	36122929	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:36122929T>C	ENST00000303965.4	-	23	4255	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTGATTGATTTCTGAGCAT	0.343000													45	48					0	0	0.870114	0	0
REG3G	130120	broad.mit.edu	37	2	79255001	79255001	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:79255001G>A	ENST00000272324.5	+	5	586	c.402G>A	c.(400-402)gaG>gaA	p.E134E	REG3G_ENST00000409471.1_Silent_p.E88E|REG3G_ENST00000393897.2_Silent_p.E134E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	134	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCATGGGAGAAAAATCCCT	0.507000													36	41					0	0	0.788014	0	0
FAF2	23197	broad.mit.edu	37	5	175913486	175913486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:175913486C>T	ENST00000261942.6	+	3	316	c.263C>T	c.(262-264)cCa>cTa	p.P88L	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	88					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGACCTCAACCAAGGGCAAGT	0.433000													16	62					0	0	0.520397	0	0
PLIN5	440503	broad.mit.edu	37	19	4523797	4523797	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:4523797C>G	ENST00000381848.3	-	8	1215	c.1135G>C	c.(1135-1137)Gcg>Ccg	p.A379P		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGGATGGGCGCGAAGGGTCCC	0.751000													12	25					0	0	0.435327	0	0
LIFR	3977	broad.mit.edu	37	5	38489306	38489306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:38489306C>T	ENST00000263409.4	-	16	2371	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	LIFR_ENST00000453190.2_Missense_Mutation_p.A737T	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	737	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGAATCTGCAGAAGTATCC	0.358000			T	PLAG1	salivary adenoma								9	48					0	0	0.335167	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95439771	95439771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:95439771C>G	ENST00000324972.6	+	3	369	c.176C>G	c.(175-177)aCa>aGa	p.T59R	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T59R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T59R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	59	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGACGAGAGACAGAGGCTTTG	0.453000													5	35					0	0	0.184627	0	0
NLRP4	147945	broad.mit.edu	37	19	56370318	56370318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:56370318G>T	ENST00000301295.6	+	3	1981	c.1559G>T	c.(1558-1560)gGc>gTc	p.G520V	NLRP4_ENST00000346986.5_Missense_Mutation_p.G520V|NLRP4_ENST00000587891.1_Missense_Mutation_p.G445V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	520							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTTTTTTGGCTTCCAACTG	0.428000													24	61					1.55469e-16	1.85042e-16	0.654019	1	0
SLC45A2	51151	broad.mit.edu	37	5	33982466	33982466	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:33982466A>C	ENST00000382102.3	-	2	494	c.437T>G	c.(436-438)aTg>aGg	p.M146R	SLC45A2_ENST00000296589.4_Missense_Mutation_p.M146R|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M146R|SLC45A2_ENST00000509381.1_Missense_Mutation_p.M146R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	146					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GACACCTATCATGGTGACACT	0.433000													19	50					0	0	0.557998	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281497	49281497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr13:49281497G>A	ENST00000282018.3	+	1	547	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483000													39	122					0	0	0.812448	0	0
AJUBA	84962	broad.mit.edu	37	14	23450599	23450599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:23450599G>A	ENST00000262713.2	-	1	1252	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R293*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	293	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCGGCTTCTCGCCCACCGGTG	0.706000													10	10					0	0	0.361761	0	0
PDHA2	5161	broad.mit.edu	37	4	96762054	96762054	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:96762054G>A	ENST00000295266.4	+	1	816	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	251					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGGGCTAAAGGTCGATGGAA	0.463000													13	63					0	0	0.435327	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296498	39296498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:39296498C>T	ENST00000345847.4	-	1	241	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	77	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTAGGGCGGCAGCAGGT	0.662000													18	41					0	0	0.520397	0	0
XIRP2	129446	broad.mit.edu	37	2	168114998	168114998	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:168114998A>C	ENST00000409728.1	+	11	2130	c.2041A>C	c.(2041-2043)Aca>Cca	p.T681P	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.T648P|XIRP2_ENST00000409756.2_Missense_Mutation_p.T648P|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.T681P|XIRP2_ENST00000409605.1_Missense_Mutation_p.T426P	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2759					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCTGAAGACACAAAGAGTAA	0.358000													15	34					0	0	0.457914	0	0
SLIT3	6586	broad.mit.edu	37	5	168123340	168123340	+	Silent	SNP	G	G	A	rs79266600	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:168123340G>A	ENST00000519560.1	-	28	3458	c.3039C>T	c.(3037-3039)gaC>gaT	p.D1013D	SLIT3_ENST00000404867.3_Silent_p.D1013D|SLIT3_ENST00000332966.8_Silent_p.D1020D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1013	EGF-like 3.				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)			TGTTGATCCCGTCCACGCAGG	0.532000													24	78					0	0	0.639603	0	0
LRRC1	55227	broad.mit.edu	37	6	53787549	53787549	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:53787549C>T	ENST00000370888.1	+	14	1810	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	511						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAAACAAAAACGAGGTCAATC	0.473000													41	233					0	0	0.870114	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F256F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498000													14	145					0	0	0.457914	0	0
METTL21B	25895	broad.mit.edu	37	12	58166597	58166597	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:58166597G>C	ENST00000333012.5	+	1	137	c.90G>C	c.(88-90)aaG>aaC	p.K30N	METTL21B_ENST00000551420.1_Intron|METTL21B_ENST00000300209.8_Missense_Mutation_p.K30N|METTL21B_ENST00000548256.1_Intron|METTL21B_ENST00000552307.1_3'UTR	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	30						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						ACTCGGAGAAGAGCCAGTTCT	0.652000													16	42					0	0	0.500413	0	0
FAM105A	54491	broad.mit.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:14608915T>G	ENST00000274217.3	+	7	806	c.686T>G	c.(685-687)cTt>cGt	p.L229R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229								p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328000													16	38					0	0	0.500413	0	0
PI16	221476	broad.mit.edu	37	6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:36930839C>T	ENST00000373674.3	+	5	1049	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	241						extracellular region|integral to membrane	peptidase inhibitor activity	p.P241S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGGGATTCCGGCTTTCTT	0.562000													42	90					0	0	0.853193	0	0
NUP210	23225	broad.mit.edu	37	3	13370375	13370375	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:13370375C>T	ENST00000254508.5	-	31	4264	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1394					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGCACGGCCACCAGGGCCT	0.537000													26	19					0	0	0.706142	0	0
DPP10	57628	broad.mit.edu	37	2	116485420	116485420	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:116485420A>G	ENST00000410059.1	+	8	1085	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.Y152C|DPP10_ENST00000393147.2_Missense_Mutation_p.Y206C|DPP10_ENST00000310323.8_Missense_Mutation_p.Y195C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	202					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATATCTACTATCAACCTGAT	0.313000													7	32					0	0	0.278610	0	0
CCDC11	220136	broad.mit.edu	37	18	47777156	47777156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:47777156T>A	ENST00000398545.4	-	5	1085	c.968A>T	c.(967-969)gAa>gTa	p.E323V		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	323										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTGCCTCTTCCTGTAAGTC	0.428000													52	182					0	0	0.870114	0	0
HEATR5A	25938	broad.mit.edu	37	14	31858116	31858116	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:31858116C>G	ENST00000543095.2	-	7	1052	c.868G>C	c.(868-870)Gcc>Ccc	p.A290P	HEATR5A_ENST00000404677.3_Missense_Mutation_p.A290P|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A284P|HEATR5A_ENST00000439727.1_5'UTR|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A284P	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	284							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)		TCTCCACTGGCTCGAAGGAAT	0.458000													22	22					0	0	0.639603	0	0
OR5D14	219436	broad.mit.edu	37	11	55563785	55563785	+	Missense_Mutation	SNP	A	A	G	rs149902192		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55563785A>G	ENST00000335605.1	+	1	754	c.754A>G	c.(754-756)Atc>Gtc	p.I252V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I252F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458000													24	62					0	0	0.639603	0	0
TANGO6	79613	broad.mit.edu	37	16	68894425	68894425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:68894425G>T	ENST00000261778.1	+	2	745	c.733G>T	c.(733-735)Gag>Tag	p.E245*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ACCTGCAGAAGAGGTAAATAT	0.428000													14	40					1.5842e-08	1.7701e-08	0.435327	1	0
CCDC108	255101	broad.mit.edu	37	2	219886544	219886544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:219886544G>T	ENST00000341552.5	-	18	3171	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CCDC108_ENST00000453220.1_Missense_Mutation_p.L1030M|CCDC108_ENST00000441968.1_Missense_Mutation_p.L1030M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1030						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCTCCAGGTAGAGGCGG	0.602000													79	114					2.43828e-56	2.99991e-56	0.870114	1	0
DOCK2	1794	broad.mit.edu	37	5	169461497	169461497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:169461497T>A	ENST00000256935.8	+	35	3642	c.3562T>A	c.(3562-3564)Tac>Aac	p.Y1188N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.Y680N|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y249N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1188	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTGGATTACCGGGGTGT	0.587000													7	59					0	0	0.278610	0	0
GABBR2	9568	broad.mit.edu	37	9	101216493	101216493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:101216493G>T	ENST00000259455.2	-	7	1465	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	336					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATACTGCTGTGGAGTCTGG	0.547000													25	64					1.12875e-08	1.26768e-08	0.706142	1	0
TTN	7273	broad.mit.edu	37	2	179587087	179587087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179587087A>G	ENST00000589042.1	-	77	22651	c.22427T>C	c.(22426-22428)tTa>tCa	p.L7476S	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L7159S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6232S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7159							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)			CAAAATTTTTAAAGTTGCCAC	0.423000													13	28					0	0	0.435327	0	0
CFTR	1080	broad.mit.edu	37	7	117235095	117235095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:117235095G>A	ENST00000003084.6	+	15	2734	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	CFTR_ENST00000454343.1_Missense_Mutation_p.V807I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	868	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTGCTTAGTAATTTTTCT	0.333000									Cystic Fibrosis				17	36					0	0	0.539581	0	0
OR5D18	219438	broad.mit.edu	37	11	55587248	55587248	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:55587248T>A	ENST00000333976.4	+	1	163	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGTTGATTGTGATCATCAAA	0.458000													69	119					0	0	0.870114	0	0
FLRT2	23768	broad.mit.edu	37	14	86088735	86088735	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr14:86088735C>G	ENST00000330753.4	+	2	1644	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	FLRT2_ENST00000554746.1_Missense_Mutation_p.Q293E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	293					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATGCTGACTCAAGGGGTTTT	0.463000													75	205					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	55					7.88262e-20	9.48514e-20	0.654019	1	0
ANKRD12	23253	broad.mit.edu	37	18	9256801	9256801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr18:9256801C>G	ENST00000383440.2	+	8	3724	c.3467C>G	c.(3466-3468)tCt>tGt	p.S1156C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1156C|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1179C	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1179						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGGAAGTCATCTTTTGTTTCA	0.383000													16	48					0	0	0.479597	0	0
CECR7	100130418	broad.mit.edu	37	22	17525784	17525784	+	RNA	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:17525784G>A	ENST00000441006.1	+	0	797					NR_015352.1																						GAACACAGCCGAAGTGGAATG	0.522000													14	18					0	0	0.479597	0	0
PTPRG	5793	broad.mit.edu	37	3	62254758	62254758	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:62254758A>G	ENST00000474889.1	+	20	3300	c.2923A>G	c.(2923-2925)Aac>Gac	p.N975D	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N946D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	975	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAATATGGAAACATTATTGT	0.363000													28	20					0	0	0.717897	0	0
PLA1A	51365	broad.mit.edu	37	3	119343977	119343977	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:119343977A>T	ENST00000273371.4	+	9	1091	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	PLA1A_ENST00000494440.1_Missense_Mutation_p.H324L|PLA1A_ENST00000488919.1_Missense_Mutation_p.H167L|PLA1A_ENST00000495992.1_Missense_Mutation_p.H324L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	340					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTGCATCACAGCCTCGTG	0.498000													19	34					0	0	0.592651	0	0
GMPS	8833	broad.mit.edu	37	3	155633847	155633847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633847G>A	ENST00000496455.1	+	9	1413	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GMPS_ENST00000295920.7_Missense_Mutation_p.E261K	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	360					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAACCAGAGGAGGTTTT	0.378000			T	MLL	AML								9	32					0	0	0.307466	0	0
GRIA1	2890	broad.mit.edu	37	5	153175081	153175081	+	Silent	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:153175081C>G	ENST00000340592.5	+	14	2389	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V	GRIA1_ENST00000448073.4_Silent_p.V782V|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	772					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAAGGCGTCTTAGACAAGC	0.448000													15	29					0	0	0.539581	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554275	20554275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:20554275C>A	ENST00000329697.6	-	12	1638	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E411D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACAGCCGTCTCAACCACAG	0.557000													15	60					1.15088e-07	1.26654e-07	0.500413	1	0
MAP1S	55201	broad.mit.edu	37	19	17844128	17844128	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:17844128G>T	ENST00000324096.4	+	6	3066	c.2915G>T	c.(2914-2916)cGc>cTc	p.R972L	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.R946L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	972	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGCGCGTGCGCGCGCTCTGC	0.672000													8	12					0.00448238	0.00452369	0.307466	1	0
SYNE1	23345	broad.mit.edu	37	6	152786398	152786398	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:152786398T>A	ENST00000367255.5	-	18	2528	c.1927A>T	c.(1927-1929)Aaa>Taa	p.K643*	SYNE1_ENST00000367248.3_Nonsense_Mutation_p.K633*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K650*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.K210*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	643					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTTTGGCATTTTCT	0.403000										HNSCC(10;0.0054)			34	84					0	0	0.779181	0	0
LINS	55180	broad.mit.edu	37	15	101120487	101120487	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:101120487T>G	ENST00000314742.8	-	3	692	c.470A>C	c.(469-471)tAt>tCt	p.Y157S	LINS_ENST00000560133.1_Missense_Mutation_p.Y38S|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.Y157S	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	157										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAATTGGAAATATAGAAGCAA	0.294000													9	17					0	0	0.411799	0	0
CTNND2	1501	broad.mit.edu	37	5	11023090	11023090	+	Splice_Site	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:11023090G>T	ENST00000304623.8	-	17	2979	c.2788_splice	c.e17-1	p.G930_splice	CTNND2_ENST00000359640.2_Splice_Site_p.G872_splice|CTNND2_ENST00000503622.1_Splice_Site_p.G593_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.G497_splice|CTNND2_ENST00000511377.1_Splice_Site_p.G839_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGTATTTGCCTGGAAAAG	0.507000													12	35					0.00185496	0.00188072	0.435327	1	0
GGTLC2	91227	broad.mit.edu	37	22	22988902	22988902	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:22988902C>G	ENST00000448514.1	+	1	87	c.87C>G	c.(85-87)ttC>ttG	p.F29L	GGTLC2_ENST00000480559.1_Missense_Mutation_p.F29L			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	29					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGCCCGAGTTCTACACGCCGG	0.607000													13	15					0	0	0.435327	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128206807	128206807	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:128206807A>G	ENST00000265960.3	-	11	1748	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	MAPKAP1_ENST00000373497.5_Silent_p.A185A|MAPKAP1_ENST00000373503.3_Silent_p.A280A|MAPKAP1_ENST00000394063.1_Silent_p.A280A|MAPKAP1_ENST00000373511.2_Silent_p.A425A|MAPKAP1_ENST00000373498.1_Silent_p.A472A|MAPKAP1_ENST00000350766.3_Silent_p.A436A|MAPKAP1_ENST00000483937.1_5'UTR	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	472	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGACGGTAGCAGCGTCCGATT	0.473000													53	93					0	0	0.870114	0	0
GMPS	8833	broad.mit.edu	37	3	155633846	155633846	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:155633846A>T	ENST00000496455.1	+	9	1412	c.1077A>T	c.(1075-1077)ccA>ccT	p.P359P	GMPS_ENST00000295920.7_Silent_p.P260P	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	359					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTGAAACCAGAGGAGGTTT	0.378000			T	MLL	AML								9	33					0	0	0.307466	0	0
CDKL5	6792	broad.mit.edu	37	X	18606257	18606257	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:18606257G>T	ENST00000379989.3	+	10	1023	c.738G>T	c.(736-738)ggG>ggT	p.G246G	CDKL5_ENST00000379996.3_Silent_p.G246G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	246	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTTCCATGGGCTCCGGGTAA	0.403000													44	55					2.68985e-26	3.25457e-26	0.870114	1	0
VCAN	1462	broad.mit.edu	37	5	82817564	82817564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:82817564A>G	ENST00000265077.3	+	7	4004	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	VCAN_ENST00000512590.2_Missense_Mutation_p.T1099A|VCAN_ENST00000342785.4_Missense_Mutation_p.T1147A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1147	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)		AGGTAGTAGTACAACAGGATT	0.388000													38	55					0	0	0.804634	0	0
DOPEY1	23033	broad.mit.edu	37	6	83820000	83820000	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:83820000A>T	ENST00000349129.2	+	6	908	c.648A>T	c.(646-648)caA>caT	p.Q216H	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q216H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q216H|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q216H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	216					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)		TGGAAGATCAACTTTATATAA	0.403000													80	152					0	0	0.870114	0	0
BRDT	676	broad.mit.edu	37	1	92459659	92459659	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:92459659A>G	ENST00000370389.2	+	15	2840	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	BRDT_ENST00000362005.3_Missense_Mutation_p.D712G|BRDT_ENST00000402388.1_Missense_Mutation_p.D712G|BRDT_ENST00000399546.2_Missense_Mutation_p.D712G|BRDT_ENST00000394530.3_Missense_Mutation_p.D666G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	712	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGTGTGCAAGACACAACCTCT	0.348000													41	76					0	0	0.847076	0	0
STK32B	55351	broad.mit.edu	37	4	5448436	5448436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr4:5448436C>T	ENST00000282908.5	+	7	1021	c.599C>T	c.(598-600)cCc>cTc	p.P200L	STK32B_ENST00000510398.1_Missense_Mutation_p.P153L|STK32B_ENST00000512636.1_Missense_Mutation_p.P123L|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	200	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GACAGAGGCCCCGGATACTCG	0.572000													24	27					0	0	0.667858	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605137	140605137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140605137C>T	ENST00000239449.4	+	1	2060	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T534I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCCCTCACCGTCTACCTG	0.711000													75	115					0	0	0.870114	0	0
SCGN	10590	broad.mit.edu	37	6	25689756	25689756	+	Missense_Mutation	SNP	A	A	T	rs143515197		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:25689756A>T	ENST00000377961.2	+	9	797	c.629A>T	c.(628-630)gAt>gTt	p.D210V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	210	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTACTATGATGTTGTAAGT	0.398000													38	88					0	0	0.834066	0	0
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:3238516G>A	ENST00000217939.6	-	5	5364	c.5210C>T	c.(5209-5211)aCt>aTt	p.T1737I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1737						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463000													4	10					0	0	0.150653	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:67218811G>A	ENST00000314586.6	-	12	2139	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	633					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCACCAAACTGAGGAAAAGCT	0.687000													3	18					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166852534	166852534	+	Missense_Mutation	SNP	G	G	T	rs143088184		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:166852534G>T	ENST00000423058.2	-	24	4587	c.4570C>A	c.(4570-4572)Cct>Act	p.P1524T	SCN1A_ENST00000375405.3_Missense_Mutation_p.P1513T|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1524T|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1496T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTGGTCGAGGTATAGGCTTT	0.338000													22	69					2.39556e-15	2.79058e-15	0.639603	1	0
HTR1A	3350	broad.mit.edu	37	5	63256467	63256467	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:63256467G>A	ENST00000323865.3	-	1	1313	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	360					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGATGAAGAAGGGCAGCCAGC	0.597000													35	132					0	0	0.769981	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:133758916G>A	ENST00000422256.2	+	4	577	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	258					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.R227H(1)|p.R31H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.582000													20	46					0	0	0.639603	0	0
ULK1	8408	broad.mit.edu	37	12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	rs147399196	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:132401102C>T	ENST00000321867.4	+	20	2389	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	680					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687000													5	47					0	0	0.217242	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088789	43088789	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:43088789T>C	ENST00000359467.3	-	5	1723	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGGTCTGACTTCAAGCAGAAG	0.423000													27	110					0	0	0.706142	0	0
BTG3	10950	broad.mit.edu	37	21	18971032	18971032	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr21:18971032T>A	ENST00000339775.6	-	5	707	c.554A>T	c.(553-555)gAt>gTt	p.D185V	BTG3_ENST00000348354.6_Missense_Mutation_p.D141V	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	141					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGAATGATAATCAGAGGTAAC	0.423000													12	25					0	0	0.387290	0	0
ABCB1	5243	broad.mit.edu	37	7	87135328	87135328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:87135328G>A	ENST00000265724.3	-	28	3938	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T1110I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1174	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAGAGCTGAGTTCCTTTGTC	0.403000													32	55					0	0	0.788014	0	0
PGK2	5232	broad.mit.edu	37	6	49753700	49753700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:49753700C>A	ENST00000304801.3	-	1	1353	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	401					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCAGAAGCTCTAGACTGGCA	0.473000													33	86					1.06801e-11	1.2182e-11	0.740014	1	0
ZNF626	199777	broad.mit.edu	37	19	20807449	20807449	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:20807449G>T	ENST00000601440.1	-	4	1380	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTGTAGTAAGGTTAGAGGAG	0.403000													16	49					3.41278e-10	3.85257e-10	0.520397	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257667	114257667	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:114257667C>A	ENST00000306507.5	+	1	1007	c.834C>A	c.(832-834)gcC>gcA	p.A278A		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	278	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	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 activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCGCCTATGCCGGGGCACCGA	0.701000													24	29					2.61193e-14	3.0106e-14	0.740014	1	0
PTOV1	53635	broad.mit.edu	37	19	50361873	50361873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:50361873C>T	ENST00000391842.1	+	10	1174	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	PTOV1_ENST00000601638.1_Missense_Mutation_p.T303I|PTOV1_ENST00000221557.9_Missense_Mutation_p.T303I|PTOV1_ENST00000601675.1_Missense_Mutation_p.T335I|PTOV1_ENST00000600603.1_Missense_Mutation_p.T303I|PTOV1_ENST00000599732.1_Missense_Mutation_p.T335I|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCTGGAGACACTGAAGAGC	0.667000													4	9					0	0	0.184627	0	0
KCNH3	23416	broad.mit.edu	37	12	49951243	49951243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:49951243G>A	ENST00000257981.6	+	15	3019	c.2759G>A	c.(2758-2760)cGg>cAg	p.R920Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	920					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCGTGCCCTCGGGCATCGGGA	0.677000													4	18					0	0	0.184627	0	0
TNN	63923	broad.mit.edu	37	1	175063297	175063297	+	Missense_Mutation	SNP	C	C	T	rs17374761		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:175063297C>T	ENST00000239462.4	+	7	1609	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	499	Fibronectin type-III 3.		T -> M (in dbSNP:rs17374761).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGTCCTGACGGGCCTGAAG	0.547000													16	32					0	0	0.500413	0	0
PLEC	5339	broad.mit.edu	37	8	144990748	144990748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144990748C>T	ENST00000322810.4	-	32	13821	c.13652G>A	c.(13651-13653)cGc>cAc	p.R4551H	PLEC_ENST00000345136.3_Missense_Mutation_p.R4414H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4441H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4392H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4382H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4437H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4400H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4418H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4414H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4551	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGTGCCGCGCTGCAGGGC	0.672000													7	75					0	0	0.248553	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237322	33237322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:33237322G>A	ENST00000401073.2	+	6	2612	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	KIAA1522_ENST00000373481.3_Missense_Mutation_p.A800T|KIAA1522_ENST00000373480.1_Missense_Mutation_p.A789T|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTAGTTCCGCCCCAGGGCA	0.677000													3	31					0	0	0.115264	0	0
ILKAP	80895	broad.mit.edu	37	2	239090740	239090740	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:239090740G>T	ENST00000254654.3	-	9	977	c.802C>A	c.(802-804)Cgg>Agg	p.R268R		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	268	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCCTCATCCGCTCTTCATAC	0.498000													84	187					2.56433e-40	3.13736e-40	0.870114	1	0
FBN2	2201	broad.mit.edu	37	5	127638678	127638678	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:127638678A>C	ENST00000508053.1	-	52	6878	c.5904T>G	c.(5902-5904)aaT>aaG	p.N1968K	FBN2_ENST00000262464.4_Missense_Mutation_p.N1968K			P35556	FBN2_HUMAN	fibrillin 2	1968	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCAATCATTATTATGAGTGA	0.373000													41	91					0	0	0.859065	0	0
LRP1B	53353	broad.mit.edu	37	2	141771236	141771236	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:141771236T>G	ENST00000389484.3	-	14	3240	c.2269A>C	c.(2269-2271)Atg>Ctg	p.M757L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	757					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)		GAACCATTCATATAATCAGTC	0.393000										TSP Lung(27;0.18)			33	78					0	0	0.750413	0	0
ENO2	2026	broad.mit.edu	37	12	7028878	7028878	+	Silent	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:7028878T>A	ENST00000535366.1	+	7	1442	c.816T>A	c.(814-816)acT>acA	p.T272T	ENO2_ENST00000538763.1_Silent_p.T229T|ENO2_ENST00000541477.1_Silent_p.T272T|ENO2_ENST00000229277.1_Silent_p.T272T|ENO2_ENST00000544774.1_Silent_p.T229T|ENO2_ENST00000545045.2_Silent_p.T153T			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	272					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATACATCACTGGGGACCAGC	0.542000													21	54					0	0	0.592651	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103175431	103175431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:103175431G>C	ENST00000375735.2	+	77	11508	c.11364G>C	c.(11362-11364)tgG>tgC	p.W3788C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3795C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3788	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTATCTTGGCTGCCAGTTC	0.378000													21	645					0	0	0.639603	0	0
ZNF709	163051	broad.mit.edu	37	19	12575299	12575299	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:12575299T>C	ENST00000397732.3	-	4	1608	c.1437A>G	c.(1435-1437)aaA>aaG	p.K479K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.K479K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCACACTGTTTACATTCAT	0.398000													42	102					0	0	0.859065	0	0
TAF10	6881	broad.mit.edu	37	11	6632501	6632501	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:6632501G>A	ENST00000299424.4	-	4	963	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	162					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTGAGATGAATTTCTGGG	0.488000													37	74					0	0	0.812448	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830196	26830196	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr22:26830196C>T	ENST00000215906.5	+	2	1053	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTGAGACCCTCTACAAAGCTT	0.532000													22	28					0	0	0.608945	0	0
ABCC5	10057	broad.mit.edu	37	3	183655818	183655818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr3:183655818C>T	ENST00000334444.6	-	26	3965	c.3725G>A	c.(3724-3726)cGt>cAt	p.R1242H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1199H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1242	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCACCAGACGGAAGAGGGC	0.502000													6	92					0	0	0.217242	0	0
MCF2	4168	broad.mit.edu	37	X	138687074	138687074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:138687074C>A	ENST00000520602.1	-	17	2092	c.1807G>T	c.(1807-1809)Gac>Tac	p.D603Y	MCF2_ENST00000370573.4_Missense_Mutation_p.D543Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D504Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D688Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D543Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D559Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D619Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D603Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	543	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATGTCCTTTTTATTT	0.313000													54	58					1.27102e-15	1.48852e-15	0.870114	1	0
PTGIS	5740	broad.mit.edu	37	20	48124503	48124503	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:48124503A>G	ENST00000244043.4	-	10	1486	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	486					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTCCGGCTGCATCAGACCGAA	0.602000													15	36					0	0	0.457914	0	0
SFTPD	6441	broad.mit.edu	37	10	81697729	81697729	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:81697729T>C	ENST00000372292.3	-	8	1047	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	336	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGGGGCCCAGTTGGAATAGAC	0.552000													25	145					0	0	0.740014	0	0
CHRM2	1129	broad.mit.edu	37	7	136700564	136700564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:136700564G>A	ENST00000445907.2	+	3	1480	c.952G>A	c.(952-954)Gag>Aag	p.E318K	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E318K|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.E318K|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318K|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318K|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318K	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.E318K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCAAAGATGAGAACTCTAA	0.468000													33	74					0	0	0.750413	0	0
OAS2	4939	broad.mit.edu	37	12	113435452	113435452	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:113435452T>A	ENST00000392583.2	+	4	962	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	OAS2_ENST00000342315.4_Missense_Mutation_p.L252Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	252	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAACCGTACTGGAGCTGATC	0.502000													16	41					0	0	0.520397	0	0
DAGLB	221955	broad.mit.edu	37	7	6452471	6452471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:6452471G>A	ENST00000297056.6	-	13	1709	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	DAGLB_ENST00000436575.1_Nonsense_Mutation_p.R473*|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.R385*|DAGLB_ENST00000428902.2_Missense_Mutation_p.A373V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	514					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGACCACTCGCAAGATTCTT	0.592000													3	14					0	0	0.115264	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261865	140261865	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140261865C>T	ENST00000289272.2	+	1	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S	PCDHA13_ENST00000409494.1_Silent_p.S4S|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTCTTCCTGGCAAGGAG	0.542000													49	151					0	0	0.870114	0	0
SURF4	6836	broad.mit.edu	37	9	136234283	136234283	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:136234283C>T	ENST00000371989.3	-	2	216	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SURF4_ENST00000485435.2_Silent_p.A29A|SURF4_ENST00000371991.3_Silent_p.A29A|SURF4_ENST00000545297.1_Silent_p.A29A|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	29						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GACAGAGGCGCGCCACGTGGG	0.642000													6	62					0	0	0.307466	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262129	140262129	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													17	284					0	0	0.592651	0	0
CDH8	1006	broad.mit.edu	37	16	61687870	61687870	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:61687870T>A	ENST00000577390.1	-	12	2996	c.2042A>T	c.(2041-2043)gAc>gTc	p.D681V	CDH8_ENST00000577730.1_Missense_Mutation_p.D681V|CDH8_ENST00000299345.6_Missense_Mutation_p.D681V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	681					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTTGCAATGTCAAAAGCCTC	0.398000													43	88					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237982376	237982376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:237982376G>A	ENST00000366574.2	+	101	14791	c.14474G>A	c.(14473-14475)gGa>gAa	p.G4825E	RYR2_ENST00000542537.1_Missense_Mutation_p.G4809E|RYR2_ENST00000360064.6_Missense_Mutation_p.G4831E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4825					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTGCTGGAGGAGGGATCGGG	0.408000													15	37					0	0	0.500413	0	0
NECAB1	64168	broad.mit.edu	37	8	91929769	91929769	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:91929769T>A	ENST00000417640.2	+	6	744	c.407T>A	c.(406-408)tTg>tAg	p.L136*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	136					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGATTTTTATTGAAGGAAACC	0.403000													15	31					0	0	0.479597	0	0
RGS7	6000	broad.mit.edu	37	1	240975267	240975267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:240975267C>A	ENST00000366565.1	-	14	1414	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RGS7_ENST00000366562.4_Nonsense_Mutation_p.E345*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E292*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E319*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E261*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E292*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E345*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	345	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGGAACTGTTCTCTCCCAACT	0.413000													33	84					4.3181e-19	5.16756e-19	0.769981	1	0
OR10K1	391109	broad.mit.edu	37	1	158435777	158435777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr1:158435777G>A	ENST00000289451.2	+	1	506	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGTGTGTATGGGACTAATGG	0.562000													62	121					0	0	0.870114	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480873	140480873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:140480873G>A	ENST00000231130.2	+	1	640	c.640G>A	c.(640-642)Gcg>Acg	p.A214T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGCTCACCGCGCTGGACGG	0.562000													18	51					0	0	0.520397	0	0
NMBR	4829	broad.mit.edu	37	6	142399733	142399733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:142399733G>T	ENST00000258042.1	-	2	870	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	244					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGATTGTGTGCGCTTTTA	0.358000													17	39					3.52763e-06	3.75025e-06	0.520397	1	0
MUSK	4593	broad.mit.edu	37	9	113445040	113445040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:113445040C>A	ENST00000416899.2	+	2	292	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	MUSK_ENST00000189978.5_Missense_Mutation_p.Q56K|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.Q56K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	56	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCTACCCCCAGCCTGAGAT	0.373000													11	115					0.000673444	0.000689179	0.361761	1	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281724	41281724	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr19:41281724C>T	ENST00000600729.1	+	3	617	c.195C>T	c.(193-195)caC>caT	p.H65H	MIA_ENST00000597784.1_Silent_p.H65H|MIA_ENST00000594436.1_Silent_p.H65H|MIA_ENST00000263369.3_Silent_p.H65H																							TGACCATTCACCGGGGCCAAG	0.587000													33	62					0	0	0.769981	0	0
MPP6	51678	broad.mit.edu	37	7	24708126	24708126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr7:24708126C>A	ENST00000396475.2	+	10	1260	c.961C>A	c.(961-963)Cgt>Agt	p.R321S	MPP6_ENST00000409761.1_Missense_Mutation_p.R209S|MPP6_ENST00000222644.4_Missense_Mutation_p.R321S	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	321					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAATTTGATCGTCATGAAAT	0.368000													13	23					9.31168e-06	9.75721e-06	0.435327	1	0
ABCA8	10351	broad.mit.edu	37	17	66865847	66865847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:66865847C>G	ENST00000269080.2	-	36	4722	c.4585G>C	c.(4585-4587)Gag>Cag	p.E1529Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1569Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1569Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1529						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTACCCTTCTCTAATTTGAAG	0.363000													56	128					0	0	0.870114	0	0
ATP2A3	489	broad.mit.edu	37	17	3853822	3853822	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:3853822T>C	ENST00000309890.7	-	7	763	c.613A>G	c.(613-615)Aag>Gag	p.K205E	ATP2A3_ENST00000397035.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000352011.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.K205E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	205					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCATGTTCTTCTTGTCCTGG	0.483000													12	71					0	0	0.411799	0	0
GJA10	84694	broad.mit.edu	37	6	90604421	90604421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr6:90604421G>A	ENST00000369352.1	+	1	234	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	78					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453000													15	54					0	0	0.457914	0	0
BARHL1	56751	broad.mit.edu	37	9	135462840	135462840	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:135462840C>T	ENST00000263610.2	+	2	1204	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BARHL1_ENST00000542090.1_Silent_p.F197F	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	197						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGCGCAGCTTCGAGCGGCAGA	0.657000													10	20					0	0	0.335167	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856569	93856569	+	Silent	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:93856569A>C	ENST00000513200.3	-	4	426	c.354T>G	c.(352-354)ctT>ctG	p.L118L	KIAA0825_ENST00000312498.7_Silent_p.L118L|KIAA0825_ENST00000427991.2_Silent_p.L118L|KIAA0825_ENST00000329378.7_Silent_p.L118L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	118										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGGTCCCAAAGTAAATCCA	0.358000													9	28					0	0	0.307466	0	0
ZNF652	22834	broad.mit.edu	37	17	47394438	47394438	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:47394438A>C	ENST00000362063.2	-	2	968	c.650T>G	c.(649-651)gTa>gGa	p.V217G	ZNF652_ENST00000430262.2_Missense_Mutation_p.V217G	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGTGGCTCTACACTCTTCCT	0.522000													19	42					0	0	0.539581	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	13					0	0	0.115264	0	0
KCNE3	10008	broad.mit.edu	37	11	74168458	74168458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:74168458G>A	ENST00000310128.4	-	3	570	c.151C>T	c.(151-153)Cct>Tct	p.P51S	RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.P51S	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	51						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TCACGGCCAGGTAGGCTGGCC	0.557000													19	116					0	0	0.575678	0	0
GNL3L	54552	broad.mit.edu	37	X	54569430	54569430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:54569430G>A	ENST00000336470.4	+	6	488	c.349G>A	c.(349-351)Gac>Aac	p.D117N	GNL3L_ENST00000360845.2_Missense_Mutation_p.D117N|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	117					ribosome biogenesis	nucleolus	GTP binding	p.D117N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCAGCTGGATGACGAGGCCAC	0.488000													10	11					0	0	0.335167	0	0
NRXN3	9369	broad.mit.edu	37	14	80328189	80328189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:80328189C>T	ENST00000281127.7	+	6	2060	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	NRXN3_ENST00000335750.5_Missense_Mutation_p.T1023M|NRXN3_ENST00000554719.1_Missense_Mutation_p.T1023M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.T599M|NRXN3_ENST00000428277.2_Missense_Mutation_p.T421M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	599					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGACGAGACGCGGAACTAC	0.562000													8	18					0	0	0.278610	0	0
GALNT13	114805	broad.mit.edu	37	2	155102432	155102432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:155102432G>A	ENST00000392825.3	+	7	1361	c.794G>A	c.(793-795)cGc>cAc	p.R265H	GALNT13_ENST00000409237.1_Missense_Mutation_p.R265H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	265						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTGAATTTCCGCTGGTATCCT	0.403000													22	47					0	0	0.624587	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764562	205764562	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:205764562T>A	ENST00000367137.3	-	9	2131	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	373						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGCAGGAAGGTGGAGATGCGG	0.587000													19	29					0	0	0.575678	0	0
REV3L	5980	broad.mit.edu	37	6	111695451	111695451	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:111695451T>C	ENST00000435970.1	-	15	4689	c.3873A>G	c.(3871-3873)gcA>gcG	p.A1291A	REV3L_ENST00000368802.3_Silent_p.A1369A|REV3L_ENST00000368805.1_Silent_p.A1369A|REV3L_ENST00000358835.3_Silent_p.A1369A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1369					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGTATTCTGTGCTACCTGAG	0.303000								DNA polymerases (catalytic subunits)					38	68					0	0	0.812448	0	0
POSTN	10631	broad.mit.edu	37	13	38137487	38137487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr13:38137487C>T	ENST00000379747.4	-	23	2611	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	POSTN_ENST00000379749.4_Missense_Mutation_p.E804K|POSTN_ENST00000541481.1_Missense_Mutation_p.E745K|POSTN_ENST00000379743.4_Missense_Mutation_p.E805K|POSTN_ENST00000541179.1_Missense_Mutation_p.E777K|POSTN_ENST00000379742.4_Missense_Mutation_p.E775K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	832					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GAACGACCTTCCCTTAATCGT	0.303000													16	39					0	0	0.608945	0	0
KRT5	3852	broad.mit.edu	37	12	52909018	52909018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:52909018A>T	ENST00000252242.4	-	9	1871	c.1481T>A	c.(1480-1482)gTc>gAc	p.V494D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	494	Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCTTGTGACAACAGCTGC	0.587000													12	26					0	0	0.435327	0	0
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587000													9	25					0	0	0.307466	0	0
TTC5	91875	broad.mit.edu	37	14	20768886	20768886	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:20768886C>A	ENST00000258821.3	-	3	332	c.276G>T	c.(274-276)ctG>ctT	p.L92L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	92					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CAGCCTTTGACAGAAGCTCCT	0.532000													62	64					4.17052e-40	5.02256e-40	0.870114	1	0
NLRP7	199713	broad.mit.edu	37	19	55450643	55450643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:55450643A>T	ENST00000446217.1	-	6	2030	c.1628T>A	c.(1627-1629)cTg>cAg	p.L543Q	NLRP7_ENST00000592784.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.L515Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.L515Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.L515Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	515							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TACTTGAATCAGGTCGGGGTT	0.567000													28	66					0	0	0.760397	0	0
CYFIP2	26999	broad.mit.edu	37	5	156738742	156738742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:156738742G>T	ENST00000347377.6	+	11	1494	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CYFIP2_ENST00000541131.1_Missense_Mutation_p.D280Y|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D159Y|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D329Y|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D29Y|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D355Y|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D355Y|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	355					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCGGGATGACCACATCCG	0.612000													5	10					5.9392e-07	6.39606e-07	0.217242	1	0
ABRA	137735	broad.mit.edu	37	8	107782189	107782189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:107782189C>A	ENST00000311955.3	-	1	284	c.230G>T	c.(229-231)aGt>aTt	p.S77I		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	77					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.S77I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTGGGGCACTCTGAGCTTT	0.572000													31	89					3.11337e-16	3.63227e-16	0.769981	1	0
PIGN	23556	broad.mit.edu	37	18	59742026	59742026	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr18:59742026C>A	ENST00000357637.5	-	29	3020	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	PIGN_ENST00000400334.3_Missense_Mutation_p.D869Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	869					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCCATAATGTCTGATATGACG	0.318000													13	17					1.3612e-06	1.45195e-06	0.479597	1	0
C1orf87	127795	broad.mit.edu	37	1	60503714	60503714	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:60503714T>A	ENST00000371201.3	-	6	920	c.813A>T	c.(811-813)aaA>aaT	p.K271N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	271							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCAGCTGCTTTATTTTGCT	0.383000													19	38					0	0	0.575678	0	0
CSMD1	64478	broad.mit.edu	37	8	2820134	2820134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:2820134G>A	ENST00000602557.1	-	62	10040	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P3162L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3162	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTTCTGCGGGGATGCCAGG	0.493000													9	28					0	0	0.335167	0	0
MYOM2	9172	broad.mit.edu	37	8	2024315	2024315	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:2024315G>A	ENST00000262113.4	+	11	1356	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622000													10	18					0	0	0.361761	0	0
C14orf105	55195	broad.mit.edu	37	14	57938276	57938276	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:57938276G>T	ENST00000216445.3	-	6	824	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q270K|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q229K	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	230										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTCACTGCTTGATGTTTCAAA	0.358000													12	21					1.61879e-10	1.83136e-10	0.411799	1	0
CAPN3	825	broad.mit.edu	37	15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr15:42693865C>T	ENST00000397163.3	+	11	1600	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R461C|CAPN3_ENST00000356316.3_Missense_Mutation_p.R374C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R413C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R461C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	461	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.R461C(1)|p.R374C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582000													7	24					0	0	0.278610	0	0
TROAP	10024	broad.mit.edu	37	12	49717991	49717991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:49717991C>T	ENST00000380327.5	+	4	491	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Intron	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	550					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCCTTTCCTCCAGCAAAATG	0.517000													14	42					0	0	0.435327	0	0
COBL	23242	broad.mit.edu	37	7	51287530	51287530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:51287530C>G	ENST00000395542.2	-	2	337	c.153G>C	c.(151-153)ttG>ttC	p.L51F	COBL_ENST00000395540.2_Missense_Mutation_p.L51F|COBL_ENST00000265136.7_Missense_Mutation_p.L51F|COBL_ENST00000441453.1_Missense_Mutation_p.L51F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	51										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCATGCGAACCAAGTTCTGCT	0.642000													5	72					0	0	0.184627	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712386	16712386	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:16712386T>C	ENST00000246071.6	+	2	255	c.39T>C	c.(37-39)aaT>aaC	p.N13N	SNRPB2_ENST00000478522.1_3'UTR|SNRPB2_ENST00000377943.5_Silent_p.N13N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	13	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATCAACAATATGAATGACA	0.274000													39	102					0	0	0.864702	0	0
CUBN	8029	broad.mit.edu	37	10	16949520	16949520	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:16949520G>T	ENST00000377833.4	-	49	7757	c.7692C>A	c.(7690-7692)tcC>tcA	p.S2564S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2564	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTTCACTGGAGGTATAGG	0.463000													11	48					4.3838e-07	4.74382e-07	0.435327	1	0
SPAG6	9576	broad.mit.edu	37	10	22676869	22676869	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:22676869T>A	ENST00000376603.2	+	6	1166	c.1024T>A	c.(1024-1026)Tac>Aac	p.Y342N	SPAG6_ENST00000313311.6_Missense_Mutation_p.Y266N|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.Y241N|SPAG6_ENST00000376624.3_Missense_Mutation_p.Y266N|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	266					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CAAGGATGAATACGTGAAGAA	0.373000													19	39					0	0	0.575678	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891296	155891296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:155891296C>T	ENST00000368320.3	-	10	1161	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	KIAA0907_ENST00000368319.3_Silent_p.R345R|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G379E			Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTTGGTACTCCGTAGGGAGG	0.517000													25	63					0	0	0.639603	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643246	156643246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:156643246G>A	ENST00000296518.7	+	9	1982	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M591I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M591I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M333I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M591I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	591	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAGTTAAAATGCCCCGTTACT	0.423000													115	129					0	0	0.870114	0	0
CCDC40	55036	broad.mit.edu	37	17	78013909	78013909	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:78013909G>T	ENST00000397545.4	+	3	419	c.392G>T	c.(391-393)aGt>aTt	p.S131I	CCDC40_ENST00000374877.3_Missense_Mutation_p.S131I|CCDC40_ENST00000269318.5_Missense_Mutation_p.S131I|CCDC40_ENST00000374876.4_Missense_Mutation_p.S131I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	131					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)			GCATACGATAGTGTTAGCGGG	0.567000													5	46					1.024e-07	1.12439e-07	0.184627	1	0
LILRA2	11027	broad.mit.edu	37	19	55086773	55086773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:55086773C>T	ENST00000251377.3	+	6	839	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P236S|LILRA2_ENST00000391737.1_Missense_Mutation_p.P224S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P236S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TATGGTGGCCCCCGGGGAGAG	0.567000													47	83					0	0	0.870114	0	0
FAM47C	442444	broad.mit.edu	37	X	37028185	37028185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:37028185T>C	ENST00000358047.3	+	1	1754	c.1702T>C	c.(1702-1704)Tac>Cac	p.Y568H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	568										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCGGATGTACAGTCTCCG	0.647000													25	33					0	0	0.717897	0	0
BTBD2	55643	broad.mit.edu	37	19	1993106	1993106	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:1993106C>T	ENST00000255608.4	-	3	613	c.597G>A	c.(595-597)aaG>aaA	p.K199K	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	199						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCGCGTACTTCTTGGCGG	0.632000													5	24					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170063445	170063445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:170063445C>T	ENST00000263816.3	-	39	7070	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2262					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCATTGATACGAATCCTTGC	0.433000													35	107					0	0	0.769981	0	0
TMC2	117532	broad.mit.edu	37	20	2517943	2517943	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:2517943G>A	ENST00000358864.1	+	2	78	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	21	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGGGTGAAGAGCGGCTCTC	0.632000													6	14					0	0	0.278610	0	0
GBA3	57733	broad.mit.edu	37	4	22749519	22749519	+	RNA	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:22749519T>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGAAGAAAATGATCAAAGGC	0.403000													8	6					0	0	0.278610	0	0
DBF4B	80174	broad.mit.edu	37	17	42828265	42828265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:42828265G>A	ENST00000315005.3	+	14	1630	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	498					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCTTCCCTGAAGCCAGACC	0.587000													20	105					0	0	0.575678	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419318	48419318	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:48419318G>A	ENST00000376771.4	+	6	2363	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.E420E	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	674						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCAGTCAGAGGTGTGGGACT	0.597000													14	8					0	0	0.479597	0	0
ZNF700	90592	broad.mit.edu	37	19	12060067	12060067	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:12060067A>G	ENST00000482090.1	+	3	1592	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.R410G|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATATCATGAAAGGATTCACAC	0.443000													22	62					0	0	0.639603	0	0
FXR2	9513	broad.mit.edu	37	17	7495898	7495898	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:7495898T>C	ENST00000250113.7	-	15	2083	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	583						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GATTACGACGTTGAGGTCTTG	0.542000													49	125					0	0	0.870114	0	0
ZFHX3	463	broad.mit.edu	37	16	72993956	72993956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:72993956G>A	ENST00000268489.5	-	2	761	c.89C>T	c.(88-90)aCc>aTc	p.T30I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	30					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGGAGGTGGGTGCTGTTGAG	0.627000													17	59					0	0	0.557998	0	0
TSPYL5	85453	broad.mit.edu	37	8	98290055	98290055	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:98290055C>A	ENST00000322128.3	-	1	121	c.18G>T	c.(16-18)cgG>cgT	p.R6R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	6					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACTTTCGACCCCGACTTCGGC	0.706000													7	6					3.09899e-07	3.36977e-07	0.307466	1	0
ANAPC1	64682	broad.mit.edu	37	2	112608465	112608465	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:112608465C>A	ENST00000341068.3	-	14	2310	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	513					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCTGGCAGTCCAGGAATAAA	0.398000													16	46					5.01169e-05	5.14963e-05	0.520397	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21358894	21358894	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:21358894G>C	ENST00000256958.2	+	11	1520	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	475	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCAGTCTGTGGAAACAATGGA	0.378000													17	110					0	0	0.520397	0	0
CST5	1473	broad.mit.edu	37	20	23860167	23860167	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:23860167G>A	ENST00000304710.4	-	1	220	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	49						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGATGGCAAAGTCCAGGGCAC	0.577000													59	130					0	0	0.870114	0	0
EPHA3	2042	broad.mit.edu	37	3	89390133	89390133	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:89390133T>G	ENST00000336596.2	+	4	1107	c.882T>G	c.(880-882)agT>agG	p.S294R	EPHA3_ENST00000494014.1_Missense_Mutation_p.S294R|EPHA3_ENST00000452448.2_Missense_Mutation_p.S294R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	294	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCCTCACAGTTCTACTCAGG	0.443000										TSP Lung(6;0.00050)			30	84					0	0	0.717897	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054661	72054661	+	Silent	SNP	C	C	T	rs112129340		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:72054661C>T	ENST00000555818.1	+	2	420	c.72C>T	c.(70-72)gaC>gaT	p.D24D	SIPA1L1_ENST00000381232.3_Silent_p.D24D|SIPA1L1_ENST00000358550.2_Silent_p.D24D	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	24					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTGGCACAGACGGCACCCCCA	0.522000													48	93					0	0	0.864702	0	0
LRRC30	339291	broad.mit.edu	37	18	7231433	7231433	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr18:7231433G>A	ENST00000383467.2	+	1	311	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	99										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCGTGGTCCTGAACTTGTGCG	0.577000													10	29					0	0	0.361761	0	0
ADCY2	108	broad.mit.edu	37	5	7717334	7717334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:7717334G>A	ENST00000338316.4	+	12	1776	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.G383R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	563					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATTGATGGGATTAATGC	0.308000													22	62					0	0	0.654019	0	0
PCYT1A	5130	broad.mit.edu	37	3	195966589	195966589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:195966589C>A	ENST00000292823.2	-	9	898	c.726G>T	c.(724-726)ttG>ttT	p.L242F	PCYT1A_ENST00000431016.1_Missense_Mutation_p.L242F|PCYT1A_ENST00000419333.1_Missense_Mutation_p.L242F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	242	Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCCTCTCCTGCAAGTGGTATT	0.368000													22	82					4.16121e-05	4.29544e-05	0.639603	1	0
CDH6	1004	broad.mit.edu	37	5	31316322	31316322	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:31316322A>G	ENST00000265071.2	+	9	1663	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	CDH6_ENST00000514738.1_Silent_p.P411P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATAATCCAAAGCAAAGTA	0.368000													12	44					0	0	0.457914	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073401	40073401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr22:40073401G>T	ENST00000336649.4	+	33	4928	c.4928G>T	c.(4927-4929)gGg>gTg	p.G1643V	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1637V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1602V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1602V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1637V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1637					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCTCGGGGTGGAGCTC	0.682000													3	6					0.000602214	0.000615964	0.184627	1	0
COL4A3	1285	broad.mit.edu	37	2	228148997	228148997	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:228148997A>G	ENST00000396578.3	+	34	2979	c.2817A>G	c.(2815-2817)aaA>aaG	p.K939K	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	939	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGAGATAAAGGAAATCCCG	0.502000													13	30					0	0	0.411799	0	0
CDX1	1044	broad.mit.edu	37	5	149562461	149562461	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:149562461G>A	ENST00000231656.8	+	2	658	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATCTGGGGCTCACTGAAC	0.562000													40	81					0	0	0.847076	0	0
AGMO	392636	broad.mit.edu	37	7	15470671	15470671	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:15470671T>A	ENST00000342526.3	-	4	641	c.472A>T	c.(472-474)Aca>Tca	p.T158S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	158					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTCAGTGCTGTGGATAAGTTA	0.358000													38	84					0	0	0.859065	0	0
MYLK	4638	broad.mit.edu	37	3	123512632	123512632	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:123512632C>T	ENST00000360772.3	-	5	435	c.57G>A	c.(55-57)gtG>gtA	p.V19V	MYLK_ENST00000359169.1_Silent_p.V19V|MYLK_ENST00000360304.3_Silent_p.V19V|MYLK_ENST00000346322.5_Silent_p.V19V|MYLK_ENST00000475616.1_Silent_p.V19V			Q15746	MYLK_HUMAN	myosin light chain kinase	19					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGAGGGATCCACACTGAGGG	0.532000													11	36					0	0	0.435327	0	0
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	C	T	rs147244156		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443000													16	62					0	0	0.520397	0	0
THSD7A	221981	broad.mit.edu	37	7	11676534	11676534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:11676534C>A	ENST00000423059.3	-	2	496	c.245G>T	c.(244-246)aGg>aTg	p.R82M	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	82	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACACAGCCCTCGTTTGGAT	0.463000										HNSCC(18;0.044)			30	81					2.28855e-06	2.42955e-06	0.796494	1	0
CACNG8	59283	broad.mit.edu	37	19	54466453	54466453	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:54466453G>A	ENST00000270458.2	+	1	160	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	19					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)		AGAAGGGGGTGCAGGTGCTGC	0.682000													6	13					0	0	0.217242	0	0
DIAPH3	81624	broad.mit.edu	37	13	60485887	60485887	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr13:60485887A>T	ENST00000400324.4	-	20	2569	c.2349T>A	c.(2347-2349)ccT>ccA	p.P783P	DIAPH3_ENST00000400320.1_Silent_p.P737P|DIAPH3_ENST00000377908.2_Silent_p.P772P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Silent_p.P783P|DIAPH3_ENST00000267215.4_Silent_p.P783P|DIAPH3_ENST00000400319.1_Silent_p.P713P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	783	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAACTGCTCAGGTTCACATA	0.348000													30	56					0	0	0.750413	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587184	111587184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:111587184C>A	ENST00000368847.4	+	4	772	c.419C>A	c.(418-420)gCt>gAt	p.A140D		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	140					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCACTGCTAGCTAAACTGGCT	0.507000													5	47					1.23904e-05	1.28493e-05	0.184627	1	0
ALDH1A1	216	broad.mit.edu	37	9	75531989	75531989	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:75531989C>T	ENST00000297785.3	-	9	936	c.882G>A	c.(880-882)ggG>ggA	p.G294G	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	294					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTAGAATACCCCATGGTGTG	0.378000													60	101					0	0	0.870114	0	0
LDHD	197257	broad.mit.edu	37	16	75148731	75148731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:75148731G>T	ENST00000300051.4	-	4	509	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	LDHD_ENST00000450168.2_Missense_Mutation_p.P155T	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	155	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTACCCACGGGAAACCAGAGG	0.657000													9	32					1.76689e-08	1.95933e-08	0.335167	1	0
GALNT8	26290	broad.mit.edu	37	12	4854710	4854710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:4854710G>A	ENST00000252318.2	+	5	1313	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	326						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCAGTTGATGGGTTTAACTG	0.493000													11	49					0	0	0.411799	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744360	31744360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr21:31744360C>A	ENST00000399889.2	-	1	197	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	58	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCAGATCTCCTGACAGCCC	0.612000													12	53					0.000978159	0.000991437	0.387290	1	0
CYFIP2	26999	broad.mit.edu	37	5	156721850	156721850	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:156721850G>C	ENST00000347377.6	+	4	697	c.266G>C	c.(265-267)tGt>tCt	p.C89S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C89S|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C89S|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGCAGCTGTTCCCGGGCC	0.537000													11	18					0	0	0.411799	0	0
UTRN	7402	broad.mit.edu	37	6	144844227	144844227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:144844227G>T	ENST00000367545.3	+	40	5809	c.5809G>T	c.(5809-5811)Gaa>Taa	p.E1937*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1937					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCATCCTTGAAGCCTCTGG	0.383000													19	56					2.5808e-16	3.02669e-16	0.539581	1	0
TTC37	9652	broad.mit.edu	37	5	94852669	94852669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:94852669G>A	ENST00000358746.2	-	22	2685	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	796							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTGCTGCCTGTTTCTGCTAG	0.333000													7	21					0	0	0.248553	0	0
CCDC40	55036	broad.mit.edu	37	17	78013907	78013907	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:78013907T>G	ENST00000397545.4	+	3	417	c.390T>G	c.(388-390)gaT>gaG	p.D130E	CCDC40_ENST00000374877.3_Missense_Mutation_p.D130E|CCDC40_ENST00000269318.5_Missense_Mutation_p.D130E|CCDC40_ENST00000374876.4_Missense_Mutation_p.D130E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	130					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)			AGGCATACGATAGTGTTAGCG	0.562000													5	48					0	0	0.184627	0	0
FAM102A	399665	broad.mit.edu	37	9	130707135	130707135	+	Missense_Mutation	SNP	G	G	T	rs139831125		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:130707135G>T	ENST00000373095.1	-	9	1335	c.960C>A	c.(958-960)gaC>gaA	p.D320E	FAM102A_ENST00000373084.4_Missense_Mutation_p.D178E|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	320										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCGCGTGTCGTCCACCCAGG	0.617000													10	34					7.48243e-07	8.01945e-07	0.335167	1	0
SSPO	23145	broad.mit.edu	37	7	149493814	149493814	+	RNA	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:149493814G>A	ENST00000378016.2	+	0	6810							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGTGTGTTGCTGCCTGAGG	0.652000													4	10					0	0	0.150653	0	0
CST11	140880	broad.mit.edu	37	20	23433318	23433318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:23433318G>A	ENST00000377009.3	-	1	164	c.131C>T	c.(130-132)gCg>gTg	p.A44V	CST11_ENST00000377007.3_Missense_Mutation_p.A44V	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	44					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTGTCCTTCGCATAGTTTTC	0.483000													45	113					0	0	0.870114	0	0
MYH4	4622	broad.mit.edu	37	17	10369620	10369620	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:10369620G>A	ENST00000255381.2	-	4	428	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	106	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACGCTCTTTGAGGTTATACA	0.453000													34	92					0	0	0.796494	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	52					0	0	0.150653	0	0
ZNF845	91664	broad.mit.edu	37	19	53855800	53855800	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:53855800T>C	ENST00000458035.1	+	4	1989	c.1872T>C	c.(1870-1872)gtT>gtC	p.V624V	ZNF845_ENST00000595091.1_Silent_p.V624V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTGCAGTTCATTGGCGAA	0.363000													2	11					0	0	0.115264	0	0
LPHN3	23284	broad.mit.edu	37	4	62679537	62679537	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:62679537T>A	ENST00000512091.1	+	8	1953	c.1206T>A	c.(1204-1206)caT>caA	p.H402Q	LPHN3_ENST00000511324.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H470Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H402Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H470Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	402					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ggcaggcacatcatggacaag	0.353000													6	53					0	0	0.248553	0	0
ARAP2	116984	broad.mit.edu	37	4	36122929	36122929	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:36122929T>C	ENST00000303965.4	-	23	4255	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTGATTGATTTCTGAGCAT	0.343000													45	48					0	0	0.870114	0	0
REG3G	130120	broad.mit.edu	37	2	79255001	79255001	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:79255001G>A	ENST00000272324.5	+	5	586	c.402G>A	c.(400-402)gaG>gaA	p.E134E	REG3G_ENST00000409471.1_Silent_p.E88E|REG3G_ENST00000393897.2_Silent_p.E134E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	134	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCATGGGAGAAAAATCCCT	0.507000													36	41					0	0	0.788014	0	0
FAF2	23197	broad.mit.edu	37	5	175913486	175913486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:175913486C>T	ENST00000261942.6	+	3	316	c.263C>T	c.(262-264)cCa>cTa	p.P88L	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	88					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGACCTCAACCAAGGGCAAGT	0.433000													16	62					0	0	0.520397	0	0
PLIN5	440503	broad.mit.edu	37	19	4523797	4523797	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:4523797C>G	ENST00000381848.3	-	8	1215	c.1135G>C	c.(1135-1137)Gcg>Ccg	p.A379P		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGGATGGGCGCGAAGGGTCCC	0.751000													12	25					0	0	0.435327	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													6	74					0	0	0.307466	0	0
LIFR	3977	broad.mit.edu	37	5	38489306	38489306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:38489306C>T	ENST00000263409.4	-	16	2371	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	LIFR_ENST00000453190.2_Missense_Mutation_p.A737T	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	737	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGAATCTGCAGAAGTATCC	0.358000			T	PLAG1	salivary adenoma								9	48					0	0	0.335167	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95439771	95439771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:95439771C>G	ENST00000324972.6	+	3	369	c.176C>G	c.(175-177)aCa>aGa	p.T59R	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T59R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T59R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T59R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T59R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	59	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGACGAGAGACAGAGGCTTTG	0.453000													5	35					0	0	0.184627	0	0
NLRP4	147945	broad.mit.edu	37	19	56370318	56370318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:56370318G>T	ENST00000301295.6	+	3	1981	c.1559G>T	c.(1558-1560)gGc>gTc	p.G520V	NLRP4_ENST00000346986.5_Missense_Mutation_p.G520V|NLRP4_ENST00000587891.1_Missense_Mutation_p.G445V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	520							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTTTTTTGGCTTCCAACTG	0.428000													24	61					1.55469e-16	1.8329e-16	0.654019	1	0
SLC45A2	51151	broad.mit.edu	37	5	33982466	33982466	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:33982466A>C	ENST00000382102.3	-	2	494	c.437T>G	c.(436-438)aTg>aGg	p.M146R	SLC45A2_ENST00000296589.4_Missense_Mutation_p.M146R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M146R|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000509381.1_Missense_Mutation_p.M146R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	146					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GACACCTATCATGGTGACACT	0.433000													19	50					0	0	0.557998	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281497	49281497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr13:49281497G>A	ENST00000282018.3	+	1	547	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483000													39	122					0	0	0.812448	0	0
AJUBA	84962	broad.mit.edu	37	14	23450599	23450599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:23450599G>A	ENST00000262713.2	-	1	1252	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R293*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	293	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCGGCTTCTCGCCCACCGGTG	0.706000													10	10					0	0	0.361761	0	0
PDHA2	5161	broad.mit.edu	37	4	96762054	96762054	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:96762054G>A	ENST00000295266.4	+	1	816	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	251					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGGGCTAAAGGTCGATGGAA	0.463000													13	63					0	0	0.435327	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296498	39296498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:39296498C>T	ENST00000345847.4	-	1	241	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	77	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTAGGGCGGCAGCAGGT	0.662000													18	41					0	0	0.520397	0	0
XIRP2	129446	broad.mit.edu	37	2	168114998	168114998	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:168114998A>C	ENST00000409728.1	+	11	2130	c.2041A>C	c.(2041-2043)Aca>Cca	p.T681P	XIRP2_ENST00000409756.2_Missense_Mutation_p.T648P|XIRP2_ENST00000420519.1_Missense_Mutation_p.T681P|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.T426P|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.T648P	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2759					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCTGAAGACACAAAGAGTAA	0.358000													15	34					0	0	0.457914	0	0
SLIT3	6586	broad.mit.edu	37	5	168123340	168123340	+	Silent	SNP	G	G	A	rs79266600	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:168123340G>A	ENST00000519560.1	-	28	3458	c.3039C>T	c.(3037-3039)gaC>gaT	p.D1013D	SLIT3_ENST00000404867.3_Silent_p.D1013D|SLIT3_ENST00000332966.8_Silent_p.D1020D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1013	EGF-like 3.				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)			TGTTGATCCCGTCCACGCAGG	0.532000													24	78					0	0	0.639603	0	0
LRRC1	55227	broad.mit.edu	37	6	53787549	53787549	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:53787549C>T	ENST00000370888.1	+	14	1810	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	511						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAAACAAAAACGAGGTCAATC	0.473000													41	233					0	0	0.870114	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F256F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498000													14	145					0	0	0.457914	0	0
METTL21B	25895	broad.mit.edu	37	12	58166597	58166597	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:58166597G>C	ENST00000333012.5	+	1	137	c.90G>C	c.(88-90)aaG>aaC	p.K30N	METTL21B_ENST00000551420.1_Intron|METTL21B_ENST00000300209.8_Missense_Mutation_p.K30N|METTL21B_ENST00000548256.1_Intron|METTL21B_ENST00000552307.1_3'UTR	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	30						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						ACTCGGAGAAGAGCCAGTTCT	0.652000													16	42					0	0	0.500413	0	0
FAM105A	54491	broad.mit.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:14608915T>G	ENST00000274217.3	+	7	806	c.686T>G	c.(685-687)cTt>cGt	p.L229R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229								p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328000													16	38					0	0	0.500413	0	0
PI16	221476	broad.mit.edu	37	6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:36930839C>T	ENST00000373674.3	+	5	1049	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	241						extracellular region|integral to membrane	peptidase inhibitor activity	p.P241S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGGGATTCCGGCTTTCTT	0.562000													42	90					0	0	0.853193	0	0
NUP210	23225	broad.mit.edu	37	3	13370375	13370375	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:13370375C>T	ENST00000254508.5	-	31	4264	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1394					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGCACGGCCACCAGGGCCT	0.537000													26	19					0	0	0.706142	0	0
DPP10	57628	broad.mit.edu	37	2	116485420	116485420	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:116485420A>G	ENST00000410059.1	+	8	1085	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	DPP10_ENST00000393147.2_Missense_Mutation_p.Y206C|DPP10_ENST00000409163.1_Missense_Mutation_p.Y152C|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.Y195C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	202					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATATCTACTATCAACCTGAT	0.313000													7	32					0	0	0.278610	0	0
CCDC11	220136	broad.mit.edu	37	18	47777156	47777156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr18:47777156T>A	ENST00000398545.4	-	5	1085	c.968A>T	c.(967-969)gAa>gTa	p.E323V		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	323										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTGCCTCTTCCTGTAAGTC	0.428000													52	182					0	0	0.870114	0	0
HEATR5A	25938	broad.mit.edu	37	14	31858116	31858116	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:31858116C>G	ENST00000543095.2	-	7	1052	c.868G>C	c.(868-870)Gcc>Ccc	p.A290P	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A284P|HEATR5A_ENST00000439727.1_5'UTR|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A284P|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A290P	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	284							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)		TCTCCACTGGCTCGAAGGAAT	0.458000													22	22					0	0	0.639603	0	0
OR5D14	219436	broad.mit.edu	37	11	55563785	55563785	+	Missense_Mutation	SNP	A	A	G	rs149902192		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr11:55563785A>G	ENST00000335605.1	+	1	754	c.754A>G	c.(754-756)Atc>Gtc	p.I252V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I252F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTATCACCATCTTCCATGG	0.458000													24	62					0	0	0.639603	0	0
TANGO6	79613	broad.mit.edu	37	16	68894425	68894425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:68894425G>T	ENST00000261778.1	+	2	745	c.733G>T	c.(733-735)Gag>Tag	p.E245*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ACCTGCAGAAGAGGTAAATAT	0.428000													14	40					1.5842e-08	1.76548e-08	0.435327	1	0
CCDC108	255101	broad.mit.edu	37	2	219886544	219886544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:219886544G>T	ENST00000341552.5	-	18	3171	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CCDC108_ENST00000453220.1_Missense_Mutation_p.L1030M|CCDC108_ENST00000441968.1_Missense_Mutation_p.L1030M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1030						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCTCCAGGTAGAGGCGG	0.602000													79	114					2.43828e-56	2.96834e-56	0.870114	1	0
ASPHD2	57168	broad.mit.edu	37	22	26830196	26830196	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr22:26830196C>T	ENST00000215906.5	+	2	1053	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	205					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTGAGACCCTCTACAAAGCTT	0.532000													22	28					0	0	0.608945	0	0
DOCK2	1794	broad.mit.edu	37	5	169461497	169461497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:169461497T>A	ENST00000256935.8	+	35	3642	c.3562T>A	c.(3562-3564)Tac>Aac	p.Y1188N	DOCK2_ENST00000520908.1_Missense_Mutation_p.Y680N|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y249N|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1188	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTGGATTACCGGGGTGT	0.587000													7	59					0	0	0.278610	0	0
GABBR2	9568	broad.mit.edu	37	9	101216493	101216493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:101216493G>T	ENST00000259455.2	-	7	1465	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	336					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATACTGCTGTGGAGTCTGG	0.547000													25	64					1.12875e-08	1.2642e-08	0.706142	1	0
TTN	7273	broad.mit.edu	37	2	179587087	179587087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:179587087A>G	ENST00000589042.1	-	77	22651	c.22427T>C	c.(22426-22428)tTa>tCa	p.L7476S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7159S|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6232S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7159							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)			CAAAATTTTTAAAGTTGCCAC	0.423000													13	28					0	0	0.435327	0	0
CFTR	1080	broad.mit.edu	37	7	117235095	117235095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:117235095G>A	ENST00000003084.6	+	15	2734	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	CFTR_ENST00000454343.1_Missense_Mutation_p.V807I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	868	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTGCTTAGTAATTTTTCT	0.333000									Cystic Fibrosis				17	36					0	0	0.539581	0	0
OR5D18	219438	broad.mit.edu	37	11	55587248	55587248	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr11:55587248T>A	ENST00000333976.4	+	1	163	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGTTGATTGTGATCATCAAA	0.458000													69	119					0	0	0.870114	0	0
FLRT2	23768	broad.mit.edu	37	14	86088735	86088735	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr14:86088735C>G	ENST00000330753.4	+	2	1644	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	FLRT2_ENST00000554746.1_Missense_Mutation_p.Q293E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	293					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATGCTGACTCAAGGGGTTTT	0.463000													75	205					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	55					7.88262e-20	9.39206e-20	0.654019	1	0
ANKRD12	23253	broad.mit.edu	37	18	9256801	9256801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr18:9256801C>G	ENST00000383440.2	+	8	3724	c.3467C>G	c.(3466-3468)tCt>tGt	p.S1156C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1156C|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1179C	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1179						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGGAAGTCATCTTTTGTTTCA	0.383000													16	48					0	0	0.479597	0	0
CECR7	100130418	broad.mit.edu	37	22	17525784	17525784	+	RNA	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr22:17525784G>A	ENST00000441006.1	+	0	797					NR_015352.1																						GAACACAGCCGAAGTGGAATG	0.522000													14	18					0	0	0.479597	0	0
PTPRG	5793	broad.mit.edu	37	3	62254758	62254758	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:62254758A>G	ENST00000474889.1	+	20	3300	c.2923A>G	c.(2923-2925)Aac>Gac	p.N975D	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N946D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	975	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAATATGGAAACATTATTGT	0.363000													28	20					0	0	0.717897	0	0
PLA1A	51365	broad.mit.edu	37	3	119343977	119343977	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:119343977A>T	ENST00000273371.4	+	9	1091	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	PLA1A_ENST00000488919.1_Missense_Mutation_p.H167L|PLA1A_ENST00000495992.1_Missense_Mutation_p.H324L|PLA1A_ENST00000494440.1_Missense_Mutation_p.H324L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	340					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTGCATCACAGCCTCGTG	0.498000													19	34					0	0	0.592651	0	0
GMPS	8833	broad.mit.edu	37	3	155633847	155633847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:155633847G>A	ENST00000496455.1	+	9	1413	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GMPS_ENST00000295920.7_Missense_Mutation_p.E261K	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	360					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAACCAGAGGAGGTTTT	0.378000			T	MLL	AML								9	32					0	0	0.307466	0	0
GRIA1	2890	broad.mit.edu	37	5	153175081	153175081	+	Silent	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:153175081C>G	ENST00000340592.5	+	14	2389	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V	GRIA1_ENST00000448073.4_Silent_p.V782V|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	772					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCAAGGCGTCTTAGACAAGC	0.448000													15	29					0	0	0.539581	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554275	20554275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:20554275C>A	ENST00000329697.6	-	12	1638	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E490D|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E411D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACAGCCGTCTCAACCACAG	0.557000													15	60					1.15088e-07	1.25754e-07	0.500413	1	0
GGTLC2	91227	broad.mit.edu	37	22	22988902	22988902	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr22:22988902C>G	ENST00000448514.1	+	1	87	c.87C>G	c.(85-87)ttC>ttG	p.F29L	GGTLC2_ENST00000480559.1_Missense_Mutation_p.F29L			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	29					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGCCCGAGTTCTACACGCCGG	0.607000													13	15					0	0	0.435327	0	0
SYNE1	23345	broad.mit.edu	37	6	152786398	152786398	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:152786398T>A	ENST00000367255.5	-	18	2528	c.1927A>T	c.(1927-1929)Aaa>Taa	p.K643*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.K643*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.K633*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K650*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K650*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.K643*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.K210*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.K643*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	643					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTTTGGCATTTTCT	0.403000										HNSCC(10;0.0054)			34	84					0	0	0.779181	0	0
LINS	55180	broad.mit.edu	37	15	101120487	101120487	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr15:101120487T>G	ENST00000314742.8	-	3	692	c.470A>C	c.(469-471)tAt>tCt	p.Y157S	LINS_ENST00000560133.1_Missense_Mutation_p.Y38S|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.Y157S	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	157										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAATTGGAAATATAGAAGCAA	0.294000													9	17					0	0	0.411799	0	0
CTNND2	1501	broad.mit.edu	37	5	11023090	11023090	+	Splice_Site	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:11023090G>T	ENST00000304623.8	-	17	2979	c.2788_splice	c.e17-1	p.G930_splice	CTNND2_ENST00000359640.2_Splice_Site_p.G872_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.G593_splice|CTNND2_ENST00000458100.2_Splice_Site_p.G497_splice|CTNND2_ENST00000511377.1_Splice_Site_p.G839_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	930					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGTATTTGCCTGGAAAAG	0.507000													12	35					0.00185496	0.00187167	0.435327	1	0
MAPKAP1	79109	broad.mit.edu	37	9	128206807	128206807	+	Silent	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:128206807A>G	ENST00000265960.3	-	11	1748	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Silent_p.A425A|MAPKAP1_ENST00000373503.3_Silent_p.A280A|MAPKAP1_ENST00000373498.1_Silent_p.A472A|MAPKAP1_ENST00000350766.3_Silent_p.A436A|MAPKAP1_ENST00000373497.5_Silent_p.A185A|MAPKAP1_ENST00000394063.1_Silent_p.A280A	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	472	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGACGGTAGCAGCGTCCGATT	0.473000													53	93					0	0	0.870114	0	0
GMPS	8833	broad.mit.edu	37	3	155633846	155633846	+	Silent	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:155633846A>T	ENST00000496455.1	+	9	1412	c.1077A>T	c.(1075-1077)ccA>ccT	p.P359P	GMPS_ENST00000295920.7_Silent_p.P260P	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	359					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTGAAACCAGAGGAGGTTT	0.378000			T	MLL	AML								9	33					0	0	0.307466	0	0
CDKL5	6792	broad.mit.edu	37	X	18606257	18606257	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:18606257G>T	ENST00000379989.3	+	10	1023	c.738G>T	c.(736-738)ggG>ggT	p.G246G	CDKL5_ENST00000379996.3_Silent_p.G246G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	246	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTTCCATGGGCTCCGGGTAA	0.403000													44	55					2.68985e-26	3.22207e-26	0.870114	1	0
VCAN	1462	broad.mit.edu	37	5	82817564	82817564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:82817564A>G	ENST00000265077.3	+	7	4004	c.3439A>G	c.(3439-3441)Aca>Gca	p.T1147A	VCAN_ENST00000512590.2_Missense_Mutation_p.T1099A|VCAN_ENST00000342785.4_Missense_Mutation_p.T1147A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1147	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)		AGGTAGTAGTACAACAGGATT	0.388000													38	55					0	0	0.804634	0	0
DOPEY1	23033	broad.mit.edu	37	6	83820000	83820000	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:83820000A>T	ENST00000349129.2	+	6	908	c.648A>T	c.(646-648)caA>caT	p.Q216H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q216H|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q216H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q216H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	216					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)		TGGAAGATCAACTTTATATAA	0.403000													80	152					0	0	0.870114	0	0
BRDT	676	broad.mit.edu	37	1	92459659	92459659	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:92459659A>G	ENST00000370389.2	+	15	2840	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	BRDT_ENST00000362005.3_Missense_Mutation_p.D712G|BRDT_ENST00000402388.1_Missense_Mutation_p.D712G|BRDT_ENST00000394530.3_Missense_Mutation_p.D666G|BRDT_ENST00000399546.2_Missense_Mutation_p.D712G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	712	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGTGTGCAAGACACAACCTCT	0.348000													41	76					0	0	0.847076	0	0
STK32B	55351	broad.mit.edu	37	4	5448436	5448436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr4:5448436C>T	ENST00000282908.5	+	7	1021	c.599C>T	c.(598-600)cCc>cTc	p.P200L	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.P153L|STK32B_ENST00000512636.1_Missense_Mutation_p.P123L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	200	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GACAGAGGCCCCGGATACTCG	0.572000													24	27					0	0	0.667858	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605137	140605137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:140605137C>T	ENST00000239449.4	+	1	2060	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T534I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCCCTCACCGTCTACCTG	0.711000													75	115					0	0	0.870114	0	0
LAMA5	3911	broad.mit.edu	37	20	60893707	60893707	+	Splice_Site	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:60893707C>A	ENST00000252999.3	-	53	7109		c.e53-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGCCAGCACTAGCCGAGAC	0.677000													18	23					5.3912e-06	5.66962e-06	0.539581	1	0
SCGN	10590	broad.mit.edu	37	6	25689756	25689756	+	Missense_Mutation	SNP	A	A	T	rs143515197		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:25689756A>T	ENST00000377961.2	+	9	797	c.629A>T	c.(628-630)gAt>gTt	p.D210V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	210	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTACTATGATGTTGTAAGT	0.398000													38	88					0	0	0.834066	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	62					0	0	0.278610	0	0
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:3238516G>A	ENST00000217939.6	-	5	5364	c.5210C>T	c.(5209-5211)aCt>aTt	p.T1737I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1737						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463000													4	10					0	0	0.150653	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:67218811G>A	ENST00000314586.6	-	12	2139	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	633					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCACCAAACTGAGGAAAAGCT	0.687000													3	18					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166852534	166852534	+	Missense_Mutation	SNP	G	G	T	rs143088184		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:166852534G>T	ENST00000423058.2	-	24	4587	c.4570C>A	c.(4570-4572)Cct>Act	p.P1524T	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1496T|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1513T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1524T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTGGTCGAGGTATAGGCTTT	0.338000													22	69					2.39556e-15	2.76601e-15	0.639603	1	0
HTR1A	3350	broad.mit.edu	37	5	63256467	63256467	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:63256467G>A	ENST00000323865.3	-	1	1313	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	360					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGATGAAGAAGGGCAGCCAGC	0.597000													35	132					0	0	0.769981	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:133758916G>A	ENST00000422256.2	+	4	577	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	258					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.R227H(1)|p.R31H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.582000													20	46					0	0	0.639603	0	0
ULK1	8408	broad.mit.edu	37	12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	rs147399196	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:132401102C>T	ENST00000321867.4	+	20	2389	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	680					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687000													5	47					0	0	0.217242	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088789	43088789	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:43088789T>C	ENST00000359467.3	-	5	1723	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGGTCTGACTTCAAGCAGAAG	0.423000													27	110					0	0	0.706142	0	0
BTG3	10950	broad.mit.edu	37	21	18971032	18971032	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr21:18971032T>A	ENST00000339775.6	-	5	707	c.554A>T	c.(553-555)gAt>gTt	p.D185V	BTG3_ENST00000348354.6_Missense_Mutation_p.D141V	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	141					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGAATGATAATCAGAGGTAAC	0.423000													12	25					0	0	0.387290	0	0
ABCB1	5243	broad.mit.edu	37	7	87135328	87135328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:87135328G>A	ENST00000265724.3	-	28	3938	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T1110I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1174	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAGAGCTGAGTTCCTTTGTC	0.403000													32	55					0	0	0.788014	0	0
PGK2	5232	broad.mit.edu	37	6	49753700	49753700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:49753700C>A	ENST00000304801.3	-	1	1353	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	401					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCAGAAGCTCTAGACTGGCA	0.473000													33	86					1.06801e-11	1.21439e-11	0.740014	1	0
ZNF626	199777	broad.mit.edu	37	19	20807449	20807449	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:20807449G>T	ENST00000601440.1	-	4	1380	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTGTAGTAAGGTTAGAGGAG	0.403000													16	49					3.41278e-10	3.84152e-10	0.520397	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257667	114257667	+	Silent	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:114257667C>A	ENST00000306507.5	+	1	1007	c.834C>A	c.(832-834)gcC>gcA	p.A278A		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	278	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	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 activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCGCCTATGCCGGGGCACCGA	0.701000													24	29					2.61193e-14	3.00037e-14	0.740014	1	0
PTOV1	53635	broad.mit.edu	37	19	50361873	50361873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:50361873C>T	ENST00000391842.1	+	10	1174	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	PTOV1_ENST00000221557.9_Missense_Mutation_p.T303I|PTOV1_ENST00000601638.1_Missense_Mutation_p.T303I|PTOV1_ENST00000600603.1_Missense_Mutation_p.T303I|PTOV1_ENST00000599732.1_Missense_Mutation_p.T335I|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Missense_Mutation_p.T335I|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	335	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCTGGAGACACTGAAGAGC	0.667000													4	9					0	0	0.184627	0	0
KCNH3	23416	broad.mit.edu	37	12	49951243	49951243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:49951243G>A	ENST00000257981.6	+	15	3019	c.2759G>A	c.(2758-2760)cGg>cAg	p.R920Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	920					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCGTGCCCTCGGGCATCGGGA	0.677000													4	18					0	0	0.184627	0	0
TNN	63923	broad.mit.edu	37	1	175063297	175063297	+	Missense_Mutation	SNP	C	C	T	rs17374761		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:175063297C>T	ENST00000239462.4	+	7	1609	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	499	Fibronectin type-III 3.		T -> M (in dbSNP:rs17374761).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGTCCTGACGGGCCTGAAG	0.547000													16	32					0	0	0.500413	0	0
PLEC	5339	broad.mit.edu	37	8	144990748	144990748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:144990748C>T	ENST00000322810.4	-	32	13821	c.13652G>A	c.(13651-13653)cGc>cAc	p.R4551H	PLEC_ENST00000527096.1_Missense_Mutation_p.R4437H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4392H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4382H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4441H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4400H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4414H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4414H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4418H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4551	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGTGCCGCGCTGCAGGGC	0.672000													7	75					0	0	0.248553	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237322	33237322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:33237322G>A	ENST00000401073.2	+	6	2612	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	KIAA1522_ENST00000373480.1_Missense_Mutation_p.A789T|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A800T|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTAGTTCCGCCCCAGGGCA	0.677000													3	31					0	0	0.115264	0	0
ILKAP	80895	broad.mit.edu	37	2	239090740	239090740	+	Silent	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:239090740G>T	ENST00000254654.3	-	9	977	c.802C>A	c.(802-804)Cgg>Agg	p.R268R		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	268	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCCTCATCCGCTCTTCATAC	0.498000													84	187					2.56433e-40	3.10491e-40	0.870114	1	0
FBN2	2201	broad.mit.edu	37	5	127638678	127638678	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:127638678A>C	ENST00000508053.1	-	52	6878	c.5904T>G	c.(5902-5904)aaT>aaG	p.N1968K	FBN2_ENST00000262464.4_Missense_Mutation_p.N1968K			P35556	FBN2_HUMAN	fibrillin 2	1968	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCAATCATTATTATGAGTGA	0.373000													41	91					0	0	0.859065	0	0
LRP1B	53353	broad.mit.edu	37	2	141771236	141771236	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:141771236T>G	ENST00000389484.3	-	14	3240	c.2269A>C	c.(2269-2271)Atg>Ctg	p.M757L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	757					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)		GAACCATTCATATAATCAGTC	0.393000										TSP Lung(27;0.18)			33	78					0	0	0.750413	0	0
ENO2	2026	broad.mit.edu	37	12	7028878	7028878	+	Silent	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:7028878T>A	ENST00000535366.1	+	7	1442	c.816T>A	c.(814-816)acT>acA	p.T272T	ENO2_ENST00000538763.1_Silent_p.T229T|ENO2_ENST00000229277.1_Silent_p.T272T|ENO2_ENST00000544774.1_Silent_p.T229T|ENO2_ENST00000545045.2_Silent_p.T153T|ENO2_ENST00000541477.1_Silent_p.T272T			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	272					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATACATCACTGGGGACCAGC	0.542000													21	54					0	0	0.592651	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103175431	103175431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr11:103175431G>C	ENST00000375735.2	+	77	11508	c.11364G>C	c.(11362-11364)tgG>tgC	p.W3788C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3795C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3788	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTATCTTGGCTGCCAGTTC	0.378000													21	645					0	0	0.639603	0	0
ZNF709	163051	broad.mit.edu	37	19	12575299	12575299	+	Silent	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:12575299T>C	ENST00000397732.3	-	4	1608	c.1437A>G	c.(1435-1437)aaA>aaG	p.K479K	ZNF709_ENST00000428311.1_Silent_p.K479K|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCACACTGTTTACATTCAT	0.398000													42	102					0	0	0.859065	0	0
TAF10	6881	broad.mit.edu	37	11	6632501	6632501	+	Silent	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr11:6632501G>A	ENST00000299424.4	-	4	963	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	162					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATCTGAGATGAATTTCTGGG	0.488000													37	74					0	0	0.812448	0	0
ABCC5	10057	broad.mit.edu	37	3	183655818	183655818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr3:183655818C>T	ENST00000334444.6	-	26	3965	c.3725G>A	c.(3724-3726)cGt>cAt	p.R1242H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1199H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1242	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCACCAGACGGAAGAGGGC	0.502000													6	92					0	0	0.217242	0	0
MCF2	4168	broad.mit.edu	37	X	138687074	138687074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:138687074C>A	ENST00000520602.1	-	17	2092	c.1807G>T	c.(1807-1809)Gac>Tac	p.D603Y	MCF2_ENST00000370576.4_Missense_Mutation_p.D543Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D603Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D543Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D504Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D688Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D619Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D559Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	543	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATGTCCTTTTTATTT	0.313000													54	58					1.27102e-15	1.47517e-15	0.870114	1	0
PTGIS	5740	broad.mit.edu	37	20	48124503	48124503	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:48124503A>G	ENST00000244043.4	-	10	1486	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	486					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TTCCGGCTGCATCAGACCGAA	0.602000													15	36					0	0	0.457914	0	0
SFTPD	6441	broad.mit.edu	37	10	81697729	81697729	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:81697729T>C	ENST00000372292.3	-	8	1047	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	336	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGGGGCCCAGTTGGAATAGAC	0.552000													25	145					0	0	0.740014	0	0
CHRM2	1129	broad.mit.edu	37	7	136700564	136700564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:136700564G>A	ENST00000445907.2	+	3	1480	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CHRM2_ENST00000402486.3_Missense_Mutation_p.E318K|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318K|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318K|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318K|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E318K|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.E318K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCAAAGATGAGAACTCTAA	0.468000													33	74					0	0	0.750413	0	0
OAS2	4939	broad.mit.edu	37	12	113435452	113435452	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:113435452T>A	ENST00000392583.2	+	4	962	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	OAS2_ENST00000342315.4_Missense_Mutation_p.L252Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	252	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAACCGTACTGGAGCTGATC	0.502000													16	41					0	0	0.520397	0	0
DAGLB	221955	broad.mit.edu	37	7	6452471	6452471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:6452471G>A	ENST00000297056.6	-	13	1709	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	DAGLB_ENST00000436575.1_Nonsense_Mutation_p.R473*|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.R385*|DAGLB_ENST00000428902.2_Missense_Mutation_p.A373V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	514					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGACCACTCGCAAGATTCTT	0.592000													3	14					0	0	0.115264	0	0
PCDHA13	56136	broad.mit.edu	37	5	140261865	140261865	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:140261865C>T	ENST00000289272.2	+	1	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S4S|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTCTTCCTGGCAAGGAG	0.542000													49	151					0	0	0.870114	0	0
SURF4	6836	broad.mit.edu	37	9	136234283	136234283	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:136234283C>T	ENST00000371989.3	-	2	216	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SURF4_ENST00000371991.3_Silent_p.A29A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.A29A|SURF4_ENST00000485435.2_Silent_p.A29A	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	29						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GACAGAGGCGCGCCACGTGGG	0.642000													6	62					0	0	0.307466	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262129	140262129	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587000													17	284					0	0	0.592651	0	0
CDH8	1006	broad.mit.edu	37	16	61687870	61687870	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:61687870T>A	ENST00000577390.1	-	12	2996	c.2042A>T	c.(2041-2043)gAc>gTc	p.D681V	CDH8_ENST00000577730.1_Missense_Mutation_p.D681V|CDH8_ENST00000299345.6_Missense_Mutation_p.D681V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	681					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTTGCAATGTCAAAAGCCTC	0.398000													43	88					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237982376	237982376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:237982376G>A	ENST00000366574.2	+	101	14791	c.14474G>A	c.(14473-14475)gGa>gAa	p.G4825E	RYR2_ENST00000542537.1_Missense_Mutation_p.G4809E|RYR2_ENST00000360064.6_Missense_Mutation_p.G4831E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4825					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTGCTGGAGGAGGGATCGGG	0.408000													15	37					0	0	0.500413	0	0
NECAB1	64168	broad.mit.edu	37	8	91929769	91929769	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:91929769T>A	ENST00000417640.2	+	6	744	c.407T>A	c.(406-408)tTg>tAg	p.L136*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	136					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGATTTTTATTGAAGGAAACC	0.403000													15	31					0	0	0.479597	0	0
RGS7	6000	broad.mit.edu	37	1	240975267	240975267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:240975267C>A	ENST00000366565.1	-	14	1414	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RGS7_ENST00000331110.7_Nonsense_Mutation_p.E319*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E292*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E345*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E261*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E345*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E292*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E345*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	345	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGGAACTGTTCTCTCCCAACT	0.413000													33	84					4.3181e-19	5.11775e-19	0.769981	1	0
OR10K1	391109	broad.mit.edu	37	1	158435777	158435777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr1:158435777G>A	ENST00000289451.2	+	1	506	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGTGTGTATGGGACTAATGG	0.562000													62	121					0	0	0.870114	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480873	140480873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:140480873G>A	ENST00000231130.2	+	1	640	c.640G>A	c.(640-642)Gcg>Acg	p.A214T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGCTCACCGCGCTGGACGG	0.562000													18	51					0	0	0.520397	0	0
NMBR	4829	broad.mit.edu	37	6	142399733	142399733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:142399733G>T	ENST00000258042.1	-	2	870	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	244					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGAAGATTGTGTGCGCTTTTA	0.358000													17	39					3.52763e-06	3.72731e-06	0.520397	1	0
MUSK	4593	broad.mit.edu	37	9	113445040	113445040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:113445040C>A	ENST00000416899.2	+	2	292	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.Q56K|MUSK_ENST00000189978.5_Missense_Mutation_p.Q56K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	56	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCTACCCCCAGCCTGAGAT	0.373000													11	115					0.000673444	0.000685688	0.361761	1	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281724	41281724	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr19:41281724C>T	ENST00000600729.1	+	3	617	c.195C>T	c.(193-195)caC>caT	p.H65H	MIA_ENST00000594436.1_Silent_p.H65H|MIA_ENST00000597784.1_Silent_p.H65H|MIA_ENST00000263369.3_Silent_p.H65H																							TGACCATTCACCGGGGCCAAG	0.587000													33	62					0	0	0.769981	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	15					0	0	0.115264	0	0
MPP6	51678	broad.mit.edu	37	7	24708126	24708126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr7:24708126C>A	ENST00000396475.2	+	10	1260	c.961C>A	c.(961-963)Cgt>Agt	p.R321S	MPP6_ENST00000222644.4_Missense_Mutation_p.R321S|MPP6_ENST00000409761.1_Missense_Mutation_p.R209S	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	321					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAATTTGATCGTCATGAAAT	0.368000													13	23					9.31168e-06	9.70147e-06	0.435327	1	0
ABCA8	10351	broad.mit.edu	37	17	66865847	66865847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:66865847C>G	ENST00000269080.2	-	36	4722	c.4585G>C	c.(4585-4587)Gag>Cag	p.E1529Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.E1569Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.E1569Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1529						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTACCCTTCTCTAATTTGAAG	0.363000													56	128					0	0	0.870114	0	0
ATP2A3	489	broad.mit.edu	37	17	3853822	3853822	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:3853822T>C	ENST00000309890.7	-	7	763	c.613A>G	c.(613-615)Aag>Gag	p.K205E	ATP2A3_ENST00000397035.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000352011.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000359983.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K205E|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K205E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	205					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCATGTTCTTCTTGTCCTGG	0.483000													12	71					0	0	0.411799	0	0
GJA10	84694	broad.mit.edu	37	6	90604421	90604421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr6:90604421G>A	ENST00000369352.1	+	1	234	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	78					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453000													15	54					0	0	0.457914	0	0
BARHL1	56751	broad.mit.edu	37	9	135462840	135462840	+	Silent	SNP	C	C	T			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:135462840C>T	ENST00000263610.2	+	2	1204	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BARHL1_ENST00000542090.1_Silent_p.F197F	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	197						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGCGCAGCTTCGAGCGGCAGA	0.657000													10	20					0	0	0.335167	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856569	93856569	+	Silent	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:93856569A>C	ENST00000513200.3	-	4	426	c.354T>G	c.(352-354)ctT>ctG	p.L118L	KIAA0825_ENST00000427991.2_Silent_p.L118L|KIAA0825_ENST00000312498.7_Silent_p.L118L|KIAA0825_ENST00000329378.7_Silent_p.L118L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	118										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGGTCCCAAAGTAAATCCA	0.358000													9	28					0	0	0.307466	0	0
ZNF652	22834	broad.mit.edu	37	17	47394438	47394438	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:47394438A>C	ENST00000362063.2	-	2	968	c.650T>G	c.(649-651)gTa>gGa	p.V217G	ZNF652_ENST00000430262.2_Missense_Mutation_p.V217G	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGTGGCTCTACACTCTTCCT	0.522000													19	42					0	0	0.539581	0	0
KCNE3	10008	broad.mit.edu	37	11	74168458	74168458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr11:74168458G>A	ENST00000310128.4	-	3	570	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KCNE3_ENST00000525550.1_Missense_Mutation_p.P51S|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	51						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TCACGGCCAGGTAGGCTGGCC	0.557000													19	116					0	0	0.575678	0	0
TLK1	9874	broad.mit.edu	37	2	171853218	171853224	+	Frame_Shift_Del	DEL	AATATTG	AATATTG	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:171853218_171853224delAATATTG	ENST00000442919.2	-	20	2534_2540	c.1919_1925delCAATATT	c.(1918-1926)aafs	p.TIL640fs	TLK1_ENST00000431350.2_Frame_Shift_Del_p.TIL688fs|TLK1_ENST00000521943.1_Frame_Shift_Del_p.TIL640fs|TLK1_ENST00000434911.2_Frame_Shift_Del_p.TIL592fs|TLK1_ENST00000360843.3_Frame_Shift_Del_p.TIL709fs	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	688	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGGCTTTTAATATTGTATTTTCTTG	0.300													21	66	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179457503	179457503	+	Splice_Site	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr2:179457503delA	ENST00000589042.1	-	300	59567	c.59344_splice	c.e300+1	p.L19781_splice	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.L18140_splice|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.L17213_splice|TTN_ENST00000342175.6_Splice_Site_p.L10908_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.L10716_splice|TTN_ENST00000359218.5_Splice_Site_p.L10841_splice|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18140	Fibronectin type-III 43.						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)			TTTACTCACCAAGCCTGTCTT	0.413													47	78	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130883877	130883878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr5:130883877_130883878insC	ENST00000509018.1	-	6	562_563	c.357_358insG	c.(355-360)gaatgcfs	p.C120fs	RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.C120fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.C170fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	120					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTTTGGCATTCTCTACCTGAA	0.342													13	55	---	---	---	---					
ZNF623	9831	broad.mit.edu	37	8	144732254	144732254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr8:144732254delC	ENST00000501748.2	+	1	301	c.212delC	c.(211-213)tcfs	p.S71fs	ZNF623_ENST00000526926.1_Frame_Shift_Del_p.S31fs|ZNF623_ENST00000458270.2_Frame_Shift_Del_p.S31fs	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGAGTTCCCCCTCTCAG	0.572													31	90	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971196	21971198	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr9:21971196_21971198delCAT	ENST00000579755.1	-	2	495_497	c.203_205delATG	c.(202-207)ggg>g	p.DG68del	CDKN2A_ENST00000498628.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.DG68del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.M54del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.DG109del|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCGCTGCCCATCATCATGACC	0.680		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	5	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													9	96	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							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)	AGTATCTCTGGAAAAAAAAATA	0.332													9	271	---	---	---	---					
ITFG2	55846	broad.mit.edu	37	12	2927360	2927360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr12:2927360delA	ENST00000228799.2	+	4	462	c.323delA	c.(322-324)ggfs	p.E108fs	ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	108										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCACCACGAGACACTAATC	0.537													28	37	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25436372	25436372	+	RNA	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:25436372delC	ENST00000424208.1	+	0	981				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GGACACCTGTCCCCCACCCTT	0.612													9	6	---	---	---	---					
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr15:41857341_41857342insA	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													16	13	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2143887	2143888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr16:2143887_2143888insG	ENST00000262304.4	-	36	10953_10954	c.10745_10746insC	c.(10744-10746)cggfs	p.R3582fs	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Ins_p.R3581fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3582					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTCACGCCCGGGGGGAAGCT	0.698													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577554	7577564	+	Frame_Shift_Del	DEL	TGCAGGAACTG	TGCAGGAACTG	-	rs121912655		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr17:7577554_7577564delTGCAGGAACTG	ENST00000420246.2	-	7	849_859	c.717_727delCAGTTCCTGCA	c.(715-729)aatgfs	p.NSSCM239fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.NSSCM239fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.S241C(26)|p.C242fs*5(16)|p.S240G(14)|p.C242R(12)|p.M243L(10)|p.S241fs*6(9)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.S241A(8)|p.N239K(7)|p.C242W(7)|p.C149F(6)|p.S240I(6)|p.S241del(5)|p.?(5)|p.S148F(4)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.N239fs*25(2)|p.S240fs*7(2)|p.C149Y(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S241fs*22(2)|p.S148T(1)|p.S148C(1)|p.N239*(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.C238fs*21(1)|p.N239S(1)|p.C242fs*98(1)|p.N239N(1)|p.M144_N146delMCN(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.S240fs*23(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGCCGCCCATGCAGGAACTGTTACACATGT	0.583		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	78	---	---	---	---					
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:3684491delG	ENST00000344754.4	-	4	953	c.954delC	c.(952-954)ccfs	p.P318fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.P318fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGGCTGATGGGGGGTGAGA	0.617													9	32	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31021634	31021634	+	Frame_Shift_Del	DEL	C	C	-	rs137920574	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chr20:31021634delC	ENST00000375687.4	+	12	2057	c.1633delC	c.(1633-1635)gtfs	p.R545fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.R540fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTTGAAGATCGTCAGTCCTT	0.517			"""F, N, Mis"""		"""MDS, CMML"""								51	113	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37028110	37028111	+	Frame_Shift_Ins	INS	-	-	TA	rs143115052	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	8bc27f43-8ac4-4406-bf34-c595c8d07563	g.chrX:37028110_37028111insTA	ENST00000358047.3	+	1	1679_1680	c.1627_1628insTA	c.(1627-1629)atcfs	p.I543fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	543										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGAGAGTAGCGTATCTCATCTC	0.619													8	69	---	---	---	---					
TLK1	9874	broad.mit.edu	37	2	171853218	171853224	+	Frame_Shift_Del	DEL	AATATTG	AATATTG	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:171853218_171853224delAATATTG	ENST00000442919.2	-	20	2534_2540	c.1919_1925delCAATATT	c.(1918-1926)aafs	p.TIL640fs	TLK1_ENST00000360843.3_Frame_Shift_Del_p.TIL709fs|TLK1_ENST00000434911.2_Frame_Shift_Del_p.TIL592fs|TLK1_ENST00000431350.2_Frame_Shift_Del_p.TIL688fs|TLK1_ENST00000521943.1_Frame_Shift_Del_p.TIL640fs	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	688	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGGCTTTTAATATTGTATTTTCTTG	0.300													21	66	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179457503	179457503	+	Splice_Site	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr2:179457503delA	ENST00000589042.1	-	300	59567	c.59344_splice	c.e300+1	p.L19781_splice	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.L18140_splice|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.L10841_splice|TTN_ENST00000342992.6_Splice_Site_p.L17213_splice|TTN_ENST00000342175.6_Splice_Site_p.L10908_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.L10716_splice|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18140	Fibronectin type-III 43.						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)			TTTACTCACCAAGCCTGTCTT	0.413													47	78	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130883877	130883878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr5:130883877_130883878insC	ENST00000509018.1	-	6	562_563	c.357_358insG	c.(355-360)gaatgcfs	p.C120fs	RAPGEF6_ENST00000503398.2_5'UTR|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.C170fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.C120fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.C120fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	120					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTTTGGCATTCTCTACCTGAA	0.342													13	55	---	---	---	---					
ZNF623	9831	broad.mit.edu	37	8	144732254	144732254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr8:144732254delC	ENST00000501748.2	+	1	301	c.212delC	c.(211-213)tcfs	p.S71fs	ZNF623_ENST00000526926.1_Frame_Shift_Del_p.S31fs|ZNF623_ENST00000458270.2_Frame_Shift_Del_p.S31fs	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGAGTTCCCCCTCTCAG	0.572													31	90	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971196	21971198	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr9:21971196_21971198delCAT	ENST00000579755.1	-	2	495_497	c.203_205delATG	c.(202-207)ggg>g	p.DG68del	CDKN2A_ENST00000361570.3_In_Frame_Del_p.DG109del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.DG68del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.M54del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.M3del|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCGCTGCCCATCATCATGACC	0.680		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	5	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													9	75	---	---	---	---					
ITFG2	55846	broad.mit.edu	37	12	2927360	2927360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr12:2927360delA	ENST00000228799.2	+	4	462	c.323delA	c.(322-324)ggfs	p.E108fs	ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	108										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGCACCACGAGACACTAATC	0.537													28	37	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25436372	25436372	+	RNA	DEL	C	C	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr15:25436372delC	ENST00000424208.1	+	0	981				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GGACACCTGTCCCCCACCCTT	0.612													9	6	---	---	---	---					
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	A			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr15:41857341_41857342insA	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													16	13	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2143887	2143888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:2143887_2143888insG	ENST00000262304.4	-	36	10953_10954	c.10745_10746insC	c.(10744-10746)cggfs	p.R3582fs	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Ins_p.R3581fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3582					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTCACGCCCGGGGGGAAGCT	0.698													2	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													4	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577554	7577564	+	Frame_Shift_Del	DEL	TGCAGGAACTG	TGCAGGAACTG	-	rs121912655		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:7577554_7577564delTGCAGGAACTG	ENST00000420246.2	-	7	849_859	c.717_727delCAGTTCCTGCA	c.(715-729)aatgfs	p.NSSCM239fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.NSSCM239fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.NSSCM239fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.S241C(26)|p.C242fs*5(16)|p.S240G(14)|p.C242R(12)|p.M243L(10)|p.S241fs*6(9)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.S241A(8)|p.N239K(7)|p.C242W(7)|p.C149F(6)|p.S240I(6)|p.S241del(5)|p.?(5)|p.S148F(4)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.M243V(3)|p.C242*(3)|p.S241S(3)|p.S240C(3)|p.S241P(3)|p.S240S(2)|p.S240T(2)|p.C242C(2)|p.C242G(2)|p.N239fs*25(2)|p.S240fs*7(2)|p.C149Y(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S241fs*22(2)|p.S148T(1)|p.S148C(1)|p.N239*(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M243fs*4(1)|p.C238fs*21(1)|p.N239S(1)|p.C242fs*98(1)|p.N239N(1)|p.M144_N146delMCN(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.S240fs*23(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGCCGCCCATGCAGGAACTGTTACACATGT	0.583		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	78	---	---	---	---					
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Translation_Start_Site	INS	-	-	TC	rs147679570		TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								sugar binding	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584													6	3	---	---	---	---					
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:3684491delG	ENST00000344754.4	-	4	953	c.954delC	c.(952-954)ccfs	p.P318fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.P318fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGGCTGATGGGGGGTGAGA	0.617													9	32	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31021634	31021634	+	Frame_Shift_Del	DEL	C	C	-	rs137920574	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chr20:31021634delC	ENST00000375687.4	+	12	2057	c.1633delC	c.(1633-1635)gtfs	p.R545fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.R540fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTTGAAGATCGTCAGTCCTT	0.517			"""F, N, Mis"""		"""MDS, CMML"""								51	113	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37028110	37028111	+	Frame_Shift_Ins	INS	-	-	TA	rs143115052	byFrequency	TCGA-CV-7432-01A-11D-2129-08	TCGA-CV-7432-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60da7e3f-4d9c-4cb3-856d-6cc02e381028	a0228446-5e7f-437e-b15e-b7a022572d9d	g.chrX:37028110_37028111insTA	ENST00000358047.3	+	1	1679_1680	c.1627_1628insTA	c.(1627-1629)atcfs	p.I543fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	543										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGAGAGTAGCGTATCTCATCTC	0.619													8	69	---	---	---	---