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
TRAF3IP1	26146	broad.mit.edu	37	2	239237417	239237417	+	Silent	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:239237417T>C	ENST00000373327.4	+	4	667	c.445T>C	c.(445-447)Ttg>Ctg	p.L149L	TRAF3IP1_ENST00000391993.3_Silent_p.L149L|TRAF3IP1_ENST00000391994.2_Silent_p.L149L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	149	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ATCTCAGGAATTGGATAATAA	0.458000													3	24					0	0	0.150653	0	0
GOLIM4	27333	broad.mit.edu	37	3	167742370	167742370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:167742370G>C	ENST00000470487.1	-	14	2493	c.1804C>G	c.(1804-1806)Cca>Gca	p.P602A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P574A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	602	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTGGTCTGGATTTCCTGCC	0.463000													6	28					0	0	0.217242	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458000													15	135					0	0	0.119110	0	0
KIF5A	3798	broad.mit.edu	37	12	57968891	57968891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:57968891G>A	ENST00000455537.2	+	16	2015	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E492K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	581					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGGGGCCATCGAGGAGGAGTT	0.527000													4	19					0	0	0.150653	0	0
UNC45B	146862	broad.mit.edu	37	17	33507656	33507656	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:33507656G>A	ENST00000268876.5	+	18	2437	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	UNC45B_ENST00000433649.1_Silent_p.A778A|UNC45B_ENST00000394570.2_Silent_p.A778A|UNC45B_ENST00000378449.1_Silent_p.A699A|UNC45B_ENST00000591048.1_Silent_p.A699A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	780					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCGGCAGGCGGCCACCGAGT	0.587000													9	27					0	0	0.047766	0	0
NTF4	4909	broad.mit.edu	37	19	49564712	49564712	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:49564712G>A	ENST00000301411.3	-	2	683	c.543C>T	c.(541-543)acC>acT	p.T181T	NTF4_ENST00000593537.1_Silent_p.T181T|NTF4_ENST00000451356.2_Intron	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	181					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGCATCAGCGGTCAATGCCC	0.662000													12	26					0	0	0.080935	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211199	3211199	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:3211199G>A	ENST00000380059.3	-	12	1607	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	SLC4A11_ENST00000380056.3_Silent_p.A475A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.A459A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	475	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTTGAAAAAGGCATAAAGCG	0.532000													16	57					0	0	0.160694	0	0
PIBF1	10464	broad.mit.edu	37	13	73505317	73505317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:73505317G>A	ENST00000326291.6	+	14	2083	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	582						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACTTGGCAAGAAGAGTGCTT	0.318000													12	30					0	0	0.119110	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311562	6311562	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:6311562G>A	ENST00000400104.3	-	3	263	c.63C>T	c.(61-63)gaC>gaT	p.D21D	L3MBTL4_ENST00000284898.6_Silent_p.D21D|L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	21					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAAGCGTCCGTCCTGATCCA	0.483000													38	131					0	0	0.117977	0	0
LAMC2	3918	broad.mit.edu	37	1	183192457	183192457	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:183192457C>T	ENST00000264144.4	+	7	1016	c.951C>T	c.(949-951)ttC>ttT	p.F317F	LAMC2_ENST00000493293.1_Silent_p.F317F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	317	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTACACATTCAGGTAAAAAG	0.413000													16	36					0	0	0.146539	0	0
IPP	3652	broad.mit.edu	37	1	46206708	46206708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:46206708C>T	ENST00000396478.3	-	3	691	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	197						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGGTATTCATCCTCAATG	0.413000													23	61					0	0	0.069288	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45204236	45204236	+	Missense_Mutation	SNP	G	G	A	rs148849830		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:45204236G>A	ENST00000361473.5	+	7	852	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V73I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Intron																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TTATACCATCGTCTATTTCCA	0.478000													10	43					0	0	0.069234	0	0
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)			21	45					0	0	0.069288	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	43					0	0	0.150653	0	0
NETO1	81832	broad.mit.edu	37	18	70526309	70526309	+	Splice_Site	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:70526309G>T	ENST00000327305.6	-	4	878	c.220_splice	c.e4-1	p.A74_splice	NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice|NETO1_ENST00000583169.1_Splice_Site_p.A74_splice|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTGGAGCGGCTGTAAAGAA	0.368000													11	49					5.16669e-11	6.04612e-11	0.080935	1	0
SPTA1	6708	broad.mit.edu	37	1	158655086	158655086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158655086C>T	ENST00000368148.3	-	2	256	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E26K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	26					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E26*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGCCTCTCCTGGATCTCT	0.443000													22	74					0	0	0.069288	0	0
PRAME	23532	broad.mit.edu	37	22	22890816	22890816	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22890816G>A	ENST00000543184.1	-	5	2065	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	PRAME_ENST00000398741.1_Silent_p.S401S|PRAME_ENST00000539862.1_Silent_p.S385S|PRAME_ENST00000402697.1_Silent_p.S401S|PRAME_ENST00000405655.3_Silent_p.S401S|PRAME_ENST00000424204.2_Silent_p.S385S|PRAME_ENST00000398743.2_Silent_p.S401S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	401					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGTGGCTCAGGGAAGGCAGGA	0.572000													8	47					0	0	0.038147	0	0
SRPX	8406	broad.mit.edu	37	X	38009017	38009017	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:38009017T>C	ENST00000378533.3	-	10	1448	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G	SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Missense_Mutation_p.R435G|SRPX_ENST00000432886.2_Missense_Mutation_p.R389G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.R428G|SRPX_ENST00000538295.1_3'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	448					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCTTCTTTTCTCAAGGGAAAA	0.478000													4	32					0	0	0.150653	0	0
NXF3	56000	broad.mit.edu	37	X	102337277	102337277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:102337277C>T	ENST00000395065.3	-	9	897	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E177K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	266						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGTCCATCTCCCCTGCAGAC	0.542000													13	112					0	0	0.105934	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963052	88963052	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:88963052C>G	ENST00000333190.4	+	4	1365	c.756C>G	c.(754-756)ccC>ccG	p.P252P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	252						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAAGTCACCCATTTATAAAA	0.343000										HNSCC(36;0.09)			7	36					0	0	0.038147	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14674243	14674243	+	Silent	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14674243G>T	ENST00000380916.3	-	4	562	c.96C>A	c.(94-96)ccC>ccA	p.P32P		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	32					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GGACAATTTTGGGAATTAAAA	0.333000													12	198					0.000151284	0.000160012	0.105934	1	0
CCDC51	79714	broad.mit.edu	37	3	48476325	48476325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48476325G>A	ENST00000395694.2	-	2	299	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Nonsense_Mutation_p.Q72*	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	72						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCGTTGCTGAATGCTGTGC	0.612000													16	59					0	0	0.132662	0	0
POU3F2	5454	broad.mit.edu	37	6	99283616	99283616	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:99283616G>A	ENST00000328345.5	+	1	1037	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	289	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TTACCCAAGCGGACGTGGGGC	0.607000													39	153					0	0	0.117977	0	0
DNAH7	56171	broad.mit.edu	37	2	196726485	196726485	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:196726485G>C	ENST00000312428.6	-	42	7792	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2564					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATTAATTCGAGGTAAGAGG	0.308000													17	24					0	0	0.175082	0	0
CDH13	1012	broad.mit.edu	37	16	83813633	83813633	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:83813633A>G	ENST00000566620.1	+	12	2032	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CDH13_ENST00000428848.3_Missense_Mutation_p.N542S|CDH13_ENST00000268613.10_Missense_Mutation_p.N628S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	581	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGAATGACAATGCCCCGTTC	0.488000													6	18					0	0	0.038147	0	0
PANX3	116337	broad.mit.edu	37	11	124489330	124489330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:124489330C>A	ENST00000284288.2	+	4	745	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	226					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTTACCTATACCTTGGTCATT	0.507000													3	23					6.4e-05	6.85714e-05	0.115264	1	0
UPRT	139596	broad.mit.edu	37	X	74494381	74494381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74494381G>C	ENST00000373379.1	+	1	457	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.E98Q			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	98					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTCCTTCCTAGAGGACTGCGA	0.582000													2	18					0	0	0.115264	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041650	47041650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:47041650C>T	ENST00000450053.3	+	27	4240	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1354							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATTCTGCACGCCCTTTGAC	0.617000													4	104					0	0	0.150653	0	0
DOK1	1796	broad.mit.edu	37	2	74783065	74783065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:74783065C>T	ENST00000233668.5	+	4	1168	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	DOK1_ENST00000340004.6_Intron|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	167	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGAGCGCTGTGGCCT	0.637000													12	31					0	0	0.105934	0	0
PRSS1	5644	broad.mit.edu	37	7	142458445	142458445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:142458445G>A	ENST00000486171.1	+	2	97	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PRSS1_ENST00000311737.7_Missense_Mutation_p.G27D			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCGTTGGGGGCTACAACTGT	0.537000													21	153					0	0	0.099896	0	0
ATP9A	10079	broad.mit.edu	37	20	50225128	50225128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:50225128G>C	ENST00000338821.5	-	25	2938	c.2674C>G	c.(2674-2676)Ctg>Gtg	p.L892V	ATP9A_ENST00000311637.5_Missense_Mutation_p.L756V|ATP9A_ENST00000402822.1_Missense_Mutation_p.L771V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	892					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCAGGACCAGAGAAAACACA	0.483000													10	31					0	0	0.069234	0	0
MYH4	4622	broad.mit.edu	37	17	10363395	10363395	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:10363395C>T	ENST00000255381.2	-	14	1400	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	430	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						TGGCTTTGGCCAGAGCACCCA	0.473000													17	163					0	0	0.160694	0	0
NEDD4	4734	broad.mit.edu	37	15	56134138	56134138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:56134138G>A	ENST00000508342.1	-	15	3388	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1030	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.S611C(1)|p.S958C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACGTAGCAGAATATTCAAA	0.403000													28	28					0	0	0.125774	0	0
ATP7A	538	broad.mit.edu	37	X	77245124	77245124	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:77245124G>A	ENST00000341514.6	+	4	1161	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E336K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	336	HMA 3.			E -> V (in Ref. 1; AAA35580 and 8; AAA96010).	ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAAAGCAATAGAGGCTGTATC	0.418000													78	131					0	0	0.139131	0	0
PCSK5	5125	broad.mit.edu	37	9	78848501	78848501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:78848501C>A	ENST00000545128.1	+	22	3393	c.2855C>A	c.(2854-2856)tCc>tAc	p.S952Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	655					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACTGCACCTCCTGTGGAGCA	0.532000													11	54					3.07112e-06	3.37823e-06	0.080935	1	0
HUWE1	10075	broad.mit.edu	37	X	53613475	53613475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53613475G>C	ENST00000342160.3	-	38	5256	c.4799C>G	c.(4798-4800)tCa>tGa	p.S1600*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1600					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTTTTTGAGGAGATGGC	0.423000													3	14					0	0	0.115264	0	0
CHD2	1106	broad.mit.edu	37	15	93563370	93563370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:93563370C>T	ENST00000394196.4	+	38	6103	c.5035C>T	c.(5035-5037)Cga>Tga	p.R1679*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1679*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1679					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGGGACCGGCGACATATGGA	0.547000													12	17					0	0	0.105934	0	0
LILRA2	11027	broad.mit.edu	37	19	55087311	55087311	+	Silent	SNP	G	G	T	rs146068077	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55087311G>T	ENST00000251377.3	+	7	1123	c.990G>T	c.(988-990)ccG>ccT	p.P330P	LILRA2_ENST00000391737.1_Silent_p.P318P|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.P330P|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.P330P|LILRB1_ENST00000418536.2_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)		CGGTGCAGCCGGTCCCCACAG	0.607000													11	23					0.00010058	0.000107069	0.093190	1	0
LRP1B	53353	broad.mit.edu	37	2	140992441	140992441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:140992441C>T	ENST00000389484.3	-	90	14544	c.13573G>A	c.(13573-13575)Ggg>Agg	p.G4525R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4525					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)		ggtcctccccctatgtacctg	0.383000										TSP Lung(27;0.18)			6	29					0	0	0.217242	0	0
CXorf67	340602	broad.mit.edu	37	X	51150988	51150988	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:51150988A>G	ENST00000342995.2	+	1	1222	c.1120A>G	c.(1120-1122)Act>Gct	p.T374A						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTCCTGTGGGACTGGCTCAGA	0.607000													8	31					0	0	0.038147	0	0
TOP3B	8940	broad.mit.edu	37	22	22316888	22316888	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:22316888C>T	ENST00000398793.2	-	13	1872	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E480K|TOP3B_ENST00000413067.2_Missense_Mutation_p.E209K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	480					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATCTTCACCTCGCCCACAGGG	0.637000													15	32					0	0	0.119110	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449945	158449945	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:158449945C>G	ENST00000355585.4	+	3	447	c.372C>G	c.(370-372)ctC>ctG	p.L124L	SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367122.2_Silent_p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	124	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAAATCCTCAGCTCGGGGG	0.512000													12	29					0	0	0.080935	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	rs144557912		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507000													11	48					0	0	0.069234	0	0
BCORL1	63035	broad.mit.edu	37	X	129149172	129149172	+	Silent	SNP	G	G	A	rs138691600	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:129149172G>A	ENST00000540052.1	+	3	2468	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	BCORL1_ENST00000218147.7_Silent_p.T808T|BCORL1_ENST00000359304.2_Silent_p.T808T|BCORL1_ENST00000303743.5_Silent_p.T808T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	808					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T808T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAAACCCACGGGGCCGGCAA	0.587000													9	71					0	0	0.047766	0	0
TADA3	10474	broad.mit.edu	37	3	9822068	9822068	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:9822068C>G	ENST00000301964.2	-	9	1830	c.1272G>C	c.(1270-1272)gaG>gaC	p.E424D	TADA3_ENST00000440161.1_Missense_Mutation_p.E424D	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	424					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCAGGATGCTCTCACGCTCCT	0.587000													9	30					0	0	0.069234	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994165	139994165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:139994165C>T	ENST00000371589.4	+	6	821	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	250					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAACTATCGCCAGAAGGGCGT	0.582000													50	49					0	0	0.139131	0	0
DPCR1	135656	broad.mit.edu	37	6	30919701	30919701	+	Silent	SNP	T	T	C	rs114468580	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:30919701T>C	ENST00000462446.1	+	2	3488	c.3460T>C	c.(3460-3462)Ttg>Ctg	p.L1154L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	293						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGGACCACATTGGCCCATGA	0.473000													3	18					0	0	0.115264	0	0
WDR88	126248	broad.mit.edu	37	19	33623312	33623312	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:33623312G>A	ENST00000361680.2	+	1	315	c.237G>A	c.(235-237)ccG>ccA	p.P79P	WDR88_ENST00000592765.1_Silent_p.P79P|WDR88_ENST00000355868.3_Silent_p.P79P			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	79										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCAGGTGCCGGAGAAATTGA	0.657000													12	43					0	0	0.080935	0	0
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:9009703G>T	ENST00000397910.4	-	39	39226	c.39023C>A	c.(39022-39024)cCt>cAt	p.P13008H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGAGAGGAACAGCTGC	0.453000													5	59					5.9392e-07	6.66645e-07	0.217242	1	0
AQP6	363	broad.mit.edu	37	12	50369453	50369453	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:50369453G>A	ENST00000315520.5	+	4	1185	c.848G>A	c.(847-849)tGa>tAa	p.*283*	AQP6_ENST00000551733.1_Silent_p.*109*	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	0					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	p.*283S(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GAGAGTGTGTGAAACAGCCTA	0.672000													4	12					0	0	0.150653	0	0
ERBB2	2064	broad.mit.edu	37	17	37883113	37883113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:37883113C>T	ENST00000406381.2	+	27	3436	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1006C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1006	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CACCTTCTACCGCTCACTGCT	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	58					0	0	0.132662	0	0
LRP1B	53353	broad.mit.edu	37	2	141359128	141359128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:141359128T>C	ENST00000389484.3	-	42	7851	c.6880A>G	c.(6880-6882)Acc>Gcc	p.T2294A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2294					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)		GTGTGTCTGGTGATGGATGAG	0.512000										TSP Lung(27;0.18)			9	29					0	0	0.047766	0	0
DUOX2	50506	broad.mit.edu	37	15	45388040	45388040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:45388040C>T	ENST00000389039.6	-	30	4451	c.4066G>A	c.(4066-4068)Gct>Act	p.A1356T	DUOX2_ENST00000603300.1_Missense_Mutation_p.A1356T			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1356	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGTATCCAGCACAGCCATTG	0.622000													12	10					0	0	0.093190	0	0
TRPM3	80036	broad.mit.edu	37	9	73151732	73151732	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:73151732C>A	ENST00000377110.2	-	25	4504	c.4261G>T	c.(4261-4263)Gtg>Ttg	p.V1421L	TRPM3_ENST00000357533.2_Missense_Mutation_p.V1425L|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1448L|TRPM3_ENST00000377105.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000377106.1_Missense_Mutation_p.V1293L|TRPM3_ENST00000408909.2_Missense_Mutation_p.V1280L|TRPM3_ENST00000358082.3_Missense_Mutation_p.V1283L|TRPM3_ENST00000396280.5_Missense_Mutation_p.V1270L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.V1283L|TRPM3_ENST00000396285.1_Missense_Mutation_p.V1280L|TRPM3_ENST00000396292.4_Missense_Mutation_p.V1293L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1446						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGATGTTCACGGAATTGTCC	0.502000													13	55					2.61681e-11	3.0841e-11	0.119110	1	0
SART1	9092	broad.mit.edu	37	11	65732031	65732031	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:65732031C>T	ENST00000312397.5	+	3	509	c.417C>T	c.(415-417)gcC>gcT	p.A139A	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	139					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTTAATGCCATCAAGAAGG	0.517000													5	51					0	0	0.029380	0	0
IGHM	3507	broad.mit.edu	37	14	106322248	106322248	+	RNA	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr14:106322248C>T	ENST00000390559.2	-	0	75																											AGGCAGCCAACGGCCACGCTG	0.577000													7	9					0	0	0.029380	0	0
CES1	1066	broad.mit.edu	37	16	55860122	55860122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:55860122C>T	ENST00000422046.2	-	3	624	c.343G>A	c.(343-345)Gac>Aac	p.D115N	CES1_ENST00000360526.3_Missense_Mutation_p.D116N|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.D115N			P23141	EST1_HUMAN	carboxylesterase 1	115				D -> H (in Ref. 19; AAA83932).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TAAAGACAGTCTTCAGAAAGC	0.512000													27	103					0	0	0.091800	0	0
ZNF613	79898	broad.mit.edu	37	19	52443551	52443551	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542000													26	102					0	0	0.134883	0	0
CELF1	10658	broad.mit.edu	37	11	47504267	47504267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:47504267G>T	ENST00000395290.2	-	6	673	c.664C>A	c.(664-666)Ctt>Att	p.L222I	CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000358597.3_Missense_Mutation_p.L223I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	223					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGGGGTCCAAGAGTATTTAGA	0.502000													10	33					3.07112e-06	3.37823e-06	0.080935	1	0
INTS8	55656	broad.mit.edu	37	8	95866050	95866050	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:95866050C>G	ENST00000523731.1	+	14	1792	c.1659C>G	c.(1657-1659)gtC>gtG	p.V553V	INTS8_ENST00000447247.1_Silent_p.V553V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	553					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTTCTGTCTATAGTGGTG	0.333000													18	64					0	0	0.204396	0	0
ARID1A	8289	broad.mit.edu	37	1	27102150	27102150	+	Silent	SNP	C	C	T	rs149468118	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:27102150C>T	ENST00000324856.7	+	19	5447	c.5076C>T	c.(5074-5076)aaC>aaT	p.N1692N	ARID1A_ENST00000540690.1_Silent_p.N20N|ARID1A_ENST00000374152.2_Silent_p.N1309N|ARID1A_ENST00000457599.2_Silent_p.N1475N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1692					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATACCATCAACATCCTGCTGT	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	24					0	0	0.029380	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382584	41382584	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:41382584A>G	ENST00000377801.3	-	2	230	c.156T>C	c.(154-156)ccT>ccC	p.P52P	PLCXD3_ENST00000328457.3_Silent_p.P52P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	52	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCTGCTCAGGACCTACTG	0.448000													8	52					0	0	0.047766	0	0
TBX19	9095	broad.mit.edu	37	1	168274332	168274332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:168274332G>T	ENST00000367821.3	+	6	865	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	272					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCTGCCTGCTCCCCACAC	0.552000													22	54					7.41877e-09	8.56012e-09	0.234183	1	0
CYP8B1	1582	broad.mit.edu	37	3	42915828	42915828	+	Missense_Mutation	SNP	C	C	T	rs145159025	by1000genomes	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:42915828C>T	ENST00000316161.4	-	1	1805	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	494					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAGGCGGTAGCGGAAGCGCAC	0.582000													7	31					0	0	0.038147	0	0
MSLN	10232	broad.mit.edu	37	16	815614	815614	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr16:815614G>A	ENST00000566549.1	+	9	1209	c.792G>A	c.(790-792)ccG>ccA	p.P264P	MSLN_ENST00000545450.2_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000382862.3_Silent_p.P264P			Q13421	MSLN_HUMAN	mesothelin	264	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCATCCCGCAGGTGAGAC	0.706000													5	15					0	0	0.184627	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025296	176025296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:176025296C>T	ENST00000303991.4	-	2	1717	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	514						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCCGTCGCTGGCTCAGCC	0.627000													12	34					0	0	0.080935	0	0
CHRNA9	55584	broad.mit.edu	37	4	40339349	40339349	+	Silent	SNP	C	C	T	rs148584579	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:40339349C>T	ENST00000310169.2	+	3	472	c.333C>T	c.(331-333)ctC>ctT	p.L111L	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	111					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCAGTGACCTCGTGTGGAGGC	0.468000													8	23					0	0	0.058154	0	0
SPTA1	6708	broad.mit.edu	37	1	158631136	158631136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158631136G>A	ENST00000368148.3	-	18	2708	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A843V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	843					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCTGGCAATGTTCTC	0.423000													4	81					0	0	0.150653	0	0
CACNA1S	779	broad.mit.edu	37	1	201022706	201022706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:201022706C>T	ENST00000362061.3	-	30	3902	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1226					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGCACTCTCATCTGGGTCC	0.642000													3	35					0	0	0.115264	0	0
HLA-C	3107	broad.mit.edu	37	6	31239382	31239382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:31239382C>A	ENST00000383329.3	-	2	351	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E113*			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	113	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TCACCGTCCTCGCTCTGGTTG	0.692000													5	20					1.23904e-05	1.33622e-05	0.184627	1	0
MCM8	84515	broad.mit.edu	37	20	5948561	5948561	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:5948561G>A	ENST00000378896.3	+	10	1490	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	MCM8_ENST00000265187.4_Silent_p.K355K|MCM8_ENST00000378886.2_Silent_p.K371K|MCM8_ENST00000378883.1_Silent_p.K371K	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	371					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGAAAACAAAGAGTTCTGAGG	0.343000													19	36					0	0	0.189662	0	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390227	52390227	+	RNA	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr10:52390227C>A	ENST00000443374.1	+	0	920																											TGTTGTCTAGCAGATAAGATT	0.383000													3	8					0.004672	0.0048483	0.115264	1	0
SLC3A2	6520	broad.mit.edu	37	11	62656109	62656109	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:62656109C>T	ENST00000377892.1	+	13	2154	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	SLC3A2_ENST00000535296.1_Missense_Mutation_p.R582C|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R614C|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R158C|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R551C|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R613C|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R512C			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	613					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGAGCTGGAACGCCTGAAACT	0.657000													12	36					0	0	0.080935	0	0
MYCN	4613	broad.mit.edu	37	2	16086016	16086016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:16086016C>T	ENST00000281043.3	+	3	1489	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	398	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CAACGACCTTCGGTCCAGCTT	0.567000			A		neuroblastoma								13	69					0	0	0.093190	0	0
LILRB1	10859	broad.mit.edu	37	19	55146110	55146110	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55146110G>T	ENST00000396331.1	+	11	1736	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572000										HNSCC(37;0.09)			4	17					0.00024832	0.000259322	0.150653	1	0
FIGN	55137	broad.mit.edu	37	2	164467308	164467308	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:164467308T>A	ENST00000333129.3	-	3	1348	c.1034A>T	c.(1033-1035)cAg>cTg	p.Q345L	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	345						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CATAGGACTCTGTGTAGATCT	0.438000													21	54					0	0	0.076483	0	0
FAM47B	170062	broad.mit.edu	37	X	34962243	34962243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:34962243C>A	ENST00000329357.5	+	1	1331	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	432										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGACCGGAGCGTCCCATCTA	0.527000													21	58					6.44725e-10	7.49153e-10	0.069288	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142479948	142479948	+	RNA	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:142479948G>A	ENST00000603901.1	+	0	80					NR_001296.3																						ATCGTTGGGGGCTACACCTGT	0.552000													14	88					0	0	0.160694	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74742782	74742782	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:74742782G>A	ENST00000541184.1	-	1	555	c.78C>T	c.(76-78)ctC>ctT	p.L26L	ZDHHC15_ENST00000373361.3_Silent_p.L26L|ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373367.3_Silent_p.L26L	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	26						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGACAATAACGAGCACTGGCA	0.587000													4	31					0	0	0.150653	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659308	144659308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:144659308C>T	ENST00000449291.2	-	5	902	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R203Q|NAPRT1_ENST00000276844.7_Missense_Mutation_p.R203Q			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	203					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGCACACCTCGCAGCTGGCC	0.677000													6	20					0	0	0.029380	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:92715442C>T	ENST00000257068.2	+	2	1059	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567000													9	53					0	0	0.047766	0	0
NLRP7	199713	broad.mit.edu	37	19	55449436	55449436	+	Missense_Mutation	SNP	C	C	T	rs139797510	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:55449436C>T	ENST00000446217.1	-	7	2591	c.2189G>A	c.(2188-2190)aGc>aAc	p.S730N	NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N|NLRP7_ENST00000590030.1_Missense_Mutation_p.S702N|NLRP7_ENST00000588756.1_Missense_Mutation_p.S702N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding	p.S674I(1)		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)		ATGACAGGTGCTACGGGTTAC	0.433000													52	171					0	0	0.139131	0	0
IQCH	64799	broad.mit.edu	37	15	67571827	67571827	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr15:67571827C>T	ENST00000335894.4	+	4	430	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	IQCH_ENST00000512104.1_Silent_p.L122L|IQCH_ENST00000560790.1_3'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	122										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGTTCATCTCTGCCTGTCTT	0.428000													28	27					0	0	0.134883	0	0
GBA3	57733	broad.mit.edu	37	4	22820400	22820400	+	RNA	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:22820400A>T	ENST00000508264.1	+	0	222				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA			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	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423000													3	19					0	0	0.115264	0	0
UNC13B	10497	broad.mit.edu	37	9	35310565	35310565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:35310565G>A	ENST00000378495.3	+	9	1085	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.R288Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R300Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	288					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACGACCATCGGGAGACGGAC	0.517000													40	218					0	0	0.225048	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981929	51981929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:51981929G>T	ENST00000396477.4	+	1	54	c.33G>T	c.(31-33)tgG>tgT	p.W11C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	72						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGCCTGTGGAGGAGGGTCT	0.632000													6	16					5.18039e-06	5.62345e-06	0.038147	1	0
THBS4	7060	broad.mit.edu	37	5	79336023	79336023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:79336023C>T	ENST00000350881.2	+	2	402	c.212C>T	c.(211-213)tCa>tTa	p.S71L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	71	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTAAAAGTTCAGCCACCATC	0.443000													11	31					0	0	0.069234	0	0
UBR5	51366	broad.mit.edu	37	8	103317373	103317373	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:103317373A>G	ENST00000520539.1	-	21	3373	c.2767T>C	c.(2767-2769)Ttg>Ctg	p.L923L	UBR5_ENST00000220959.4_Silent_p.L923L|UBR5_ENST00000521922.1_Silent_p.L917L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	923					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAAGCATGCAAAATATTTCGA	0.373000													25	104					0	0	0.083992	0	0
CLK2	1196	broad.mit.edu	37	1	155234031	155234031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:155234031G>A	ENST00000368361.4	-	11	1522	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	CLK2_ENST00000355560.4_Missense_Mutation_p.R401W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W			P49760	CLK2_HUMAN	CDC-like kinase 2	403	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R403R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGATCATCCGGGAAGGGATA	0.443000								Other conserved DNA damage response genes					16	48					0	0	0.175082	0	0
ALDOC	230	broad.mit.edu	37	17	26902241	26902241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:26902241C>G	ENST00000226253.4	-	3	699	c.224G>C	c.(223-225)gGa>gCa	p.G75A	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	75					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AATGACGCCTCCAATGCACTT	0.527000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0.047766	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	39					0	0	0.217242	0	0
HIBCH	26275	broad.mit.edu	37	2	191116990	191116990	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:191116990G>A	ENST00000392332.3	-	8	700	c.561C>T	c.(559-561)ctC>ctT	p.L187L	HIBCH_ENST00000359678.5_Silent_p.L187L			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	187				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114).	branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTTTCCTTGGAGTCGTGGCA	0.363000													21	33					0	0	0.204396	0	0
LIN28B	389421	broad.mit.edu	37	6	105474273	105474273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:105474273C>G	ENST00000345080.4	+	3	502	c.299C>G	c.(298-300)aCa>aGa	p.T100R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	100	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATACGGGTAACAGGACCTGGT	0.403000													21	87					0	0	0.083992	0	0
HMCN1	83872	broad.mit.edu	37	1	186158913	186158913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:186158913G>T	ENST00000271588.4	+	107	17040	c.16811G>T	c.(16810-16812)cGc>cTc	p.R5604L	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5487L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5604					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5604H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCTACCGCATGAGGGTC	0.468000													11	35					1.58986e-06	1.77248e-06	0.069234	1	0
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr10:106937929G>T	ENST00000369701.3	+	14	2234	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493000													4	34					0.00024832	0.000259322	0.150653	1	0
PDE3A	5139	broad.mit.edu	37	12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	rs150253039	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.V349I(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACATCGCCGTCATGGGCGA	0.517000													8	44					0	0	0.038147	0	0
CSAD	51380	broad.mit.edu	37	12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:53554091G>A	ENST00000267085.4	-	14	1293	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	CSAD_ENST00000444623.1_Missense_Mutation_p.R327C|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C|RP11-1136G11.8_ENST00000550908.1_lincRNA	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCATGGCAGCGCTTGAGCAGG	0.602000													3	37					0	0	0.115264	0	0
RPF1	80135	broad.mit.edu	37	1	84961625	84961625	+	Missense_Mutation	SNP	C	C	T	rs139410871		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:84961625C>T	ENST00000370654.5	+	7	775	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	254	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTTTACAACACGGCTGGGTCA	0.383000													12	37					0	0	0.080935	0	0
ATP4A	495	broad.mit.edu	37	19	36048663	36048663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:36048663G>T	ENST00000262623.3	-	11	1615	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	529					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGATGGAGCTGCAGCGCTCCA	0.701000													4	11					1.024e-07	1.16524e-07	0.184627	1	0
TMEM198	130612	broad.mit.edu	37	2	220413898	220413898	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:220413898G>A	ENST00000344458.2	+	5	1352	c.767G>A	c.(766-768)cGc>cAc	p.R256H	TMEM198_ENST00000373883.3_Missense_Mutation_p.R256H			Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCGCCGACGCGTGCAACTG	0.627000													16	99					0	0	0.175082	0	0
HTR3B	9177	broad.mit.edu	37	11	113803665	113803665	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:113803665C>T	ENST00000260191.2	+	6	803	c.546C>T	c.(544-546)gaC>gaT	p.D182D	HTR3B_ENST00000537778.1_Silent_p.D171D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGGAAGACGTAGACCTGG	0.463000													3	51					0	0	0.115264	0	0
NCOA2	10499	broad.mit.edu	37	8	71071826	71071826	+	Silent	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:71071826A>G	ENST00000452400.2	-	10	1219	c.1038T>C	c.(1036-1038)ctT>ctC	p.L346L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	346					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGCAGCAACAAGAGTGCCAT	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								21	47					0	0	0.234183	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904556	144904556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:144904556A>T	ENST00000370490.1	+	1	4868	c.613A>T	c.(613-615)Att>Ttt	p.I205F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	205						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGAACATATTGGAGGGAT	0.473000													19	128					0	0	0.189662	0	0
DGKB	1607	broad.mit.edu	37	7	14758228	14758228	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:14758228C>T	ENST00000403951.2	-	6	824	c.405G>A	c.(403-405)ctG>ctA	p.L135L	DGKB_ENST00000399322.3_Silent_p.L135L|DGKB_ENST00000258767.5_Silent_p.L135L|DGKB_ENST00000402815.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L135L|DGKB_ENST00000444700.2_Silent_p.L128L|DGKB_ENST00000407950.1_Silent_p.L128L|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	135					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAATGTCCTTCAGATGGATTA	0.428000													11	25					0	0	0.069234	0	0
UROC1	131669	broad.mit.edu	37	3	126220703	126220703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:126220703G>T	ENST00000383579.3	-	10	1024	c.991C>A	c.(991-993)Ctt>Att	p.L331I	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGGGTGCAAGGTTGACAAAG	0.622000													9	39					0.0692343	0.0709544	0.069234	1	0
TENM3	55714	broad.mit.edu	37	4	183676102	183676102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:183676102G>T	ENST00000511685.1	+	22	4705	c.4582G>T	c.(4582-4584)Ggt>Tgt	p.G1528C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C					teneurin transmembrane protein 3																		TGACATCAATGGTACTCACCA	0.383000													6	27					0.217242	0.219908	0.217242	1	0
CD1E	913	broad.mit.edu	37	1	158325354	158325354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:158325354G>A	ENST00000444681.2	+	2	616	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R205Q|CD1E_ENST00000368167.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R207Q|CD1E_ENST00000368155.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	207					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAACTGAAACGGAAAGGTGAG	0.453000													5	15					0	0	0.217242	0	0
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:52619658A>T	ENST00000600228.1	-	4	1020	c.759T>A	c.(757-759)aaT>aaA	p.N253K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398000													8	72					0	0	0.058154	0	0
NPHS2	7827	broad.mit.edu	37	1	179544754	179544754	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:179544754C>T	ENST00000367615.4	-	1	314	c.246G>A	c.(244-246)gcG>gcA	p.A82A	NPHS2_ENST00000367616.4_Silent_p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	82					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCAACAGCGCCACCACCT	0.672000													7	15					0	0	0.029380	0	0
TRHDE	29953	broad.mit.edu	37	12	72969274	72969274	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:72969274C>A	ENST00000261180.4	+	12	2234	c.2138C>A	c.(2137-2139)tCt>tAt	p.S713Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	713					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGGTTCTTTCTGTCAGTAAC	0.403000													14	30					3.27435e-08	3.75186e-08	0.119110	1	0
NR2C2AP	126382	broad.mit.edu	37	19	19313662	19313662	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:19313662G>C	ENST00000331552.6	-	2	430	c.67C>G	c.(67-69)Cgg>Ggg	p.R23G	NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R23G|NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R23G|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.R23G	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	23					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCAAACTGCCGAGTGTTGCGA	0.577000													12	41					0	0	0.105934	0	0
SNTG2	54221	broad.mit.edu	37	2	1079296	1079296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:1079296G>C	ENST00000308624.5	+	2	294	c.165G>C	c.(163-165)caG>caC	p.Q55H	SNTG2_ENST00000407292.1_Missense_Mutation_p.Q55H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	55					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGACAATTCAGAAACAAGATG	0.498000													22	36					0	0	0.076483	0	0
ZNF536	9745	broad.mit.edu	37	19	30935483	30935483	+	Silent	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:30935483C>A	ENST00000355537.3	+	2	1161	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGCGGTGGCGAGCAGTCGG	0.652000													8	77					5.18039e-06	5.62345e-06	0.038147	1	0
KIF4B	285643	broad.mit.edu	37	5	154395571	154395571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:154395571C>T	ENST00000435029.4	+	1	2312	c.2152C>T	c.(2152-2154)Ctc>Ttc	p.L718F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	718	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAGGATGCTCTCCAGAAACA	0.473000													13	33					0	0	0.093190	0	0
CASP4	837	broad.mit.edu	37	11	104820329	104820329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:104820329C>T	ENST00000444739.2	-	5	1632	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CASP4_ENST00000393150.3_Missense_Mutation_p.R185H	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GAGGCAGTTGCGGTTGTTGAA	0.473000													14	77					0	0	0.119110	0	0
FAT4	79633	broad.mit.edu	37	4	126241794	126241794	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:126241794G>A	ENST00000394329.3	+	1	4241	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1410	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1410M(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTATTCACGTGAGGGACTT	0.383000													25	100					0	0	0.099896	0	0
NEGR1	257194	broad.mit.edu	37	1	72400876	72400876	+	Silent	SNP	T	T	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:72400876T>G	ENST00000357731.4	-	2	534	c.295A>C	c.(295-297)Agg>Cgg	p.R99R	NEGR1_ENST00000434200.1_Silent_p.R97R|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	99	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGTAGTCCCTTTTATTCAAT	0.453000													16	60					0	0	0.132662	0	0
PCDH17	27253	broad.mit.edu	37	13	58207860	58207860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr13:58207860G>A	ENST00000377918.3	+	1	1206	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	394	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGTCCTAGGCGGAGGAGGGAc	0.692000													4	6					0	0	0.150653	0	0
HUWE1	10075	broad.mit.edu	37	X	53620464	53620464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:53620464C>T	ENST00000342160.3	-	31	4058	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A1201T|HUWE1_ENST00000218328.8_Missense_Mutation_p.A1201T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1201					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAAGCCAGGCATCTAGGAAT	0.507000													3	27					0	0	0.115264	0	0
POTEC	388468	broad.mit.edu	37	18	14534921	14534921	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:14534921T>A	ENST00000358970.5	-	4	895	c.896A>T	c.(895-897)aAt>aTt	p.N299I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	299										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATCAAGTGCATTTAAATTAGC	0.308000													6	54					0	0	0.058154	0	0
DPP10	57628	broad.mit.edu	37	2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000409163.1_Missense_Mutation_p.L402M|DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452					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						AGGAAGGCAGCTGTACAGGTA	0.403000													17	41					1.00905e-13	1.19779e-13	0.204396	1	0
C3orf30	152405	broad.mit.edu	37	3	118865966	118865966	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:118865966G>C	ENST00000295622.1	+	1	970	c.930G>C	c.(928-930)gtG>gtC	p.V310V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	310										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCACCAAGTGTACGGCCAAG	0.493000													7	33					0	0	0.038147	0	0
SNRNP200	23020	broad.mit.edu	37	2	96942823	96942823	+	Missense_Mutation	SNP	G	G	A	rs150442718		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:96942823G>A	ENST00000323853.5	-	42	6165	c.6088C>T	c.(6088-6090)Cgc>Tgc	p.R2030C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2030	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTCACCTGCGGATGCTGTCC	0.552000													9	71					0	0	0.058154	0	0
GGT3P	2679	broad.mit.edu	37	22	18778602	18778602	+	RNA	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr22:18778602G>A	ENST00000412448.1	-	0	803																											CTTGGCATCCGCGGCCACGGC	0.627000													4	16					0	0	0.150653	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855040	51855040	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:51855040A>T	ENST00000453097.2	+	9	1283	c.1066A>T	c.(1066-1068)Att>Ttt	p.I356F	SLC4A8_ENST00000535225.2_Missense_Mutation_p.I303F|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I303F|SLC4A8_ENST00000394856.1_Missense_Mutation_p.I303F|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I383F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	356					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTACCATGAGATTGGCAGATC	0.378000													7	23					0	0	0.058154	0	0
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897_splice	c.e8+1	p.F299_splice	ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637000													7	29					0	0	0.038147	0	0
EBAG9	9166	broad.mit.edu	37	8	110575682	110575682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr8:110575682C>T	ENST00000531677.1	+	6	578	c.578C>T	c.(577-579)aCc>aTc	p.T193I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACTCCTACCTCCACTCCC	0.428000													47	138					0	0	0.139131	0	0
LAMP5	24141	broad.mit.edu	37	20	9510385	9510385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr20:9510385C>T	ENST00000246070.2	+	6	1253	c.761C>T	c.(760-762)gCg>gTg	p.A254V	LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	254						integral to membrane		p.A254V(1)									GTAACACTCGCGATTTACCAC	0.547000													7	39					0	0	0.038147	0	0
OSBPL8	114882	broad.mit.edu	37	12	76763056	76763056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr12:76763056C>T	ENST00000261183.3	-	21	2745	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	756					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTATCATATCATTAAGTGGG	0.303000													8	42					0	0	0.069234	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47491269	47491269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr19:47491269C>T	ENST00000404338.3	+	3	3850	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1284	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGGCATCTACCGGGTCAGCGG	0.572000													4	15					0	0	0.217242	0	0
DOK6	220164	broad.mit.edu	37	18	67266711	67266711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr18:67266711C>T	ENST00000382713.5	+	3	456	c.266C>T	c.(265-267)tCg>tTg	p.S89L	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	89	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448000													8	29					0	0	0.047766	0	0
USP51	158880	broad.mit.edu	37	X	55513554	55513554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:55513554G>A	ENST00000500968.3	-	2	1901	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	607					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAATCTTTCGCCTCTGTTTG	0.443000													3	45					0	0	0.115264	0	0
BAI2	576	broad.mit.edu	37	1	32193839	32193839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:32193839C>T	ENST00000373658.3	-	31	4800	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1487					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTTGAGCTCGTGGTAGAGT	0.637000													6	26					0	0	0.029380	0	0
ATAD5	79915	broad.mit.edu	37	17	29220528	29220528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr17:29220528G>C	ENST00000321990.4	+	21	5035	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1553					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAACACTCTGAAAGAGAACA	0.368000													19	28					0	0	0.204396	0	0
TTN	7273	broad.mit.edu	37	2	179467097	179467097	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:179467097C>T	ENST00000589042.1	-	283	55256	c.55032G>A	c.(55030-55032)aaG>aaA	p.K18344K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.K9279K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K16703K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.K9471K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.K15776K|TTN_ENST00000359218.5_Silent_p.K9404K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16703	Fibronectin type-III 33.						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)			TGAATCTGTACTTCCTGAGCT	0.418000													4	41					0	0	0.150653	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181874	140181874	+	Silent	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140181874A>T	ENST00000522353.2	+	1	1092	c.1092A>T	c.(1090-1092)ccA>ccT	p.P364P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P364P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACTCTCCACTTAGCACAG	0.488000													24	58					0	0	0.091800	0	0
COL7A1	1294	broad.mit.edu	37	3	48617463	48617463	+	Splice_Site	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:48617463C>A	ENST00000328333.8	-	56	5232		c.e56+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCCCTTACCAGCCGTCCC	0.592000													10	29					0.00829132	0.00855042	0.069234	1	0
SYNE1	23345	broad.mit.edu	37	6	152674420	152674420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr6:152674420C>T	ENST00000367255.5	-	69	11832	c.11231G>A	c.(11230-11232)gGg>gAg	p.G3744E	SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3744					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)		CAATTTCTTCCCCATCATTAC	0.423000										HNSCC(10;0.0054)			38	149					0	0	0.235728	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035518	242035518	+	Missense_Mutation	SNP	A	A	C	rs71862226		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:242035518A>C	ENST00000391980.2	-	4	1099	c.1041T>G	c.(1039-1041)gaT>gaG	p.D347E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	347			D -> E (in dbSNP:rs10203977).							endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tgtcctcctcatcatcgtcat	0.517000													22	28					0	0	0.234183	0	0
MLH1	4292	broad.mit.edu	37	3	37056031	37056031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr3:37056031C>G	ENST00000231790.2	+	9	1002	c.786C>G	c.(784-786)atC>atG	p.I262M	MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M|MLH1_ENST00000455445.2_Missense_Mutation_p.I21M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	262			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TACTCTTCATCAACCGTAAGT	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	25					0	0	0.058154	0	0
ABCC8	6833	broad.mit.edu	37	11	17428629	17428629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:17428629G>A	ENST00000302539.4	-	25	3096	c.2971C>T	c.(2971-2973)Cac>Tac	p.H991Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H990Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	990					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCACGCTGGTGCAGCATGGAC	0.607000													8	23					0	0	0.047766	0	0
CCDC88A	55704	broad.mit.edu	37	2	55570925	55570925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr2:55570925G>A	ENST00000436346.1	-	12	2033	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R398*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R398*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	398					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCATATCTCGTTCCTTTTTT	0.308000													8	14					0	0	0.038147	0	0
FREM1	158326	broad.mit.edu	37	9	14740170	14740170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:14740170C>G	ENST00000380881.4	-	37	7135	c.6320G>C	c.(6319-6321)gGt>gCt	p.G2107A	FREM1_ENST00000380894.1_Missense_Mutation_p.G642A|FREM1_ENST00000380880.3_Missense_Mutation_p.G2106A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2106	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCTCCCACCAATGTCCCA	0.502000													11	162					0	0	0.105934	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263705	140263705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr5:140263705G>A	ENST00000289272.2	+	1	1852	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T	PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_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)			GGCGGTCGGCGCGCGCATCCC	0.687000													25	48					0	0	0.083992	0	0
DOCK4	9732	broad.mit.edu	37	7	111368497	111368497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr7:111368497G>A	ENST00000428084.1	-	53	6033	c.5761C>T	c.(5761-5763)Cgc>Tgc	p.R1921C	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1912C|DOCK4_ENST00000494651.2_Missense_Mutation_p.R795C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1912	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGACGGGGCGCCGCAGAGTC	0.716000													13	34					0	0	0.105934	0	0
DGKK	139189	broad.mit.edu	37	X	50213157	50213157	+	RNA	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:50213157C>T	ENST00000376025.2	-	0	580							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGACTTGGACGGAACTCTGG	0.612000													3	21					0	0	0.115264	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45204236	45204236	+	Missense_Mutation	SNP	G	G	A	rs148849830		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr22:45204236G>A	ENST00000361473.5	+	7	852	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V73I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V73I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TTATACCATCGTCTATTTCCA	0.478000													10	43					0	0	0.069234	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:140558774C>T	ENST00000239444.2	+	1	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458000													15	135					0	0	0.119110	0	0
IPP	3652	broad.mit.edu	37	1	46206708	46206708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:46206708C>T	ENST00000396478.3	-	3	691	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	197						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGGTATTCATCCTCAATG	0.413000													23	61					0	0	0.069288	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	43					0	0	0.150653	0	0
NETO1	81832	broad.mit.edu	37	18	70526309	70526309	+	Splice_Site	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr18:70526309G>T	ENST00000327305.6	-	4	878	c.220_splice	c.e4-1	p.A74_splice	NETO1_ENST00000583169.1_Splice_Site_p.A74_splice|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTGGAGCGGCTGTAAAGAA	0.368000													11	49					5.16669e-11	6.06225e-11	0.080935	1	0
SPTA1	6708	broad.mit.edu	37	1	158655086	158655086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:158655086C>T	ENST00000368148.3	-	2	256	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E26K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	26					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E26*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGCCTCTCCTGGATCTCT	0.443000													22	74					0	0	0.069288	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29092219	29092219	+	RNA	SNP	C	C	T	rs141516940	by1000genomes	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr15:29092219C>T	ENST00000569815.1	-	0	296					NR_047567.1																						CATCCTCAGGCGAGTGGCAGC	0.552000													3	8					0	0	0.029380	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14674243	14674243	+	Silent	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr9:14674243G>T	ENST00000380916.3	-	4	562	c.96C>A	c.(94-96)ccC>ccA	p.P32P		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	32					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GGACAATTTTGGGAATTAAAA	0.333000													12	198					0.000151284	0.000162354	0.105934	1	0
CDH13	1012	broad.mit.edu	37	16	83813633	83813633	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:83813633A>G	ENST00000566620.1	+	12	2032	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CDH13_ENST00000428848.3_Missense_Mutation_p.N542S|CDH13_ENST00000268613.10_Missense_Mutation_p.N628S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	581	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGAATGACAATGCCCCGTTC	0.488000													6	18					0	0	0.038147	0	0
NLRP7	199713	broad.mit.edu	37	19	55449436	55449436	+	Missense_Mutation	SNP	C	C	T	rs139797510	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:55449436C>T	ENST00000588756.1	-	7	2591	c.2105G>A	c.(2104-2106)aGc>aAc	p.S702N	NLRP7_ENST00000592784.1_Missense_Mutation_p.S702N|NLRP7_ENST00000590030.1_Missense_Mutation_p.S702N|NLRP7_ENST00000340844.2_Missense_Mutation_p.S702N|NLRP7_ENST00000446217.1_Missense_Mutation_p.S730N|NLRP7_ENST00000328092.5_Missense_Mutation_p.S674N|NLRP7_ENST00000448121.2_Missense_Mutation_p.S674N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	702							ATP binding	p.S674I(1)		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)		ATGACAGGTGCTACGGGTTAC	0.433000													52	171					0	0	0.139131	0	0
UPRT	139596	broad.mit.edu	37	X	74494381	74494381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:74494381G>C	ENST00000373379.1	+	1	457	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	UPRT_ENST00000373383.4_Missense_Mutation_p.E98Q|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	98					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTCCTTCCTAGAGGACTGCGA	0.582000													2	18					0	0	0.115264	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981929	51981929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:51981929G>T	ENST00000396477.4	+	1	54	c.33G>T	c.(31-33)tgG>tgT	p.W11C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W72C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	72						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAGCCTGTGGAGGAGGGTCT	0.632000													6	16					5.18039e-06	5.62808e-06	0.038147	1	0
DOK1	1796	broad.mit.edu	37	2	74783065	74783065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:74783065C>T	ENST00000233668.5	+	4	1168	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	DOK1_ENST00000340004.6_Intron|DOK1_ENST00000409429.1_Missense_Mutation_p.R28C|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	167	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGAGCGCTGTGGCCT	0.637000													12	31					0	0	0.105934	0	0
PRSS1	5644	broad.mit.edu	37	7	142458445	142458445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr7:142458445G>A	ENST00000486171.1	+	2	97	c.80G>A	c.(79-81)gGc>gAc	p.G27D	PRSS1_ENST00000311737.7_Missense_Mutation_p.G27D			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	27	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCGTTGGGGGCTACAACTGT	0.537000													21	153					0	0	0.099896	0	0
MYH4	4622	broad.mit.edu	37	17	10363395	10363395	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:10363395C>T	ENST00000255381.2	-	14	1400	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	430	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						TGGCTTTGGCCAGAGCACCCA	0.473000													17	163					0	0	0.160694	0	0
NEDD4	4734	broad.mit.edu	37	15	56134138	56134138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr15:56134138G>A	ENST00000508342.1	-	15	3388	c.3089C>T	c.(3088-3090)tCt>tTt	p.S1030F	NEDD4_ENST00000506154.1_Missense_Mutation_p.S1014F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S958F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S611F			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1030	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.S611C(1)|p.S958C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACGTAGCAGAATATTCAAA	0.403000													28	28					0	0	0.125774	0	0
HUWE1	10075	broad.mit.edu	37	X	53613475	53613475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:53613475G>C	ENST00000342160.3	-	38	5256	c.4799C>G	c.(4798-4800)tCa>tGa	p.S1600*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1600*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1600*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1600					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTTTTTGAGGAGATGGC	0.423000													3	14					0	0	0.115264	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041650	47041650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:47041650C>T	ENST00000450053.3	+	27	4240	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1354							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATTCTGCACGCCCTTTGAC	0.617000													4	104					0	0	0.150653	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449945	158449945	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:158449945C>G	ENST00000355585.4	+	3	447	c.372C>G	c.(370-372)ctC>ctG	p.L124L	SYNJ2_ENST00000367121.3_Silent_p.L124L|SYNJ2_ENST00000449859.2_Silent_p.L73L|SYNJ2_ENST00000367122.2_Silent_p.L124L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	124	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAAATCCTCAGCTCGGGGG	0.512000													12	29					0	0	0.080935	0	0
DPCR1	135656	broad.mit.edu	37	6	30919701	30919701	+	Silent	SNP	T	T	C	rs114468580	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:30919701T>C	ENST00000462446.1	+	2	3488	c.3460T>C	c.(3460-3462)Ttg>Ctg	p.L1154L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	293						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGGACCACATTGGCCCATGA	0.473000													3	18					0	0	0.115264	0	0
WDR88	126248	broad.mit.edu	37	19	33623312	33623312	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:33623312G>A	ENST00000361680.2	+	1	315	c.237G>A	c.(235-237)ccG>ccA	p.P79P	WDR88_ENST00000355868.3_Silent_p.P79P|WDR88_ENST00000592765.1_Silent_p.P79P			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	79										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCAGGTGCCGGAGAAATTGA	0.657000													12	43					0	0	0.080935	0	0
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:9009703G>T	ENST00000397910.4	-	39	39226	c.39023C>A	c.(39022-39024)cCt>cAt	p.P13008H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13010					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGAGAGGAACAGCTGC	0.453000													5	59					5.9392e-07	6.70064e-07	0.217242	1	0
ERBB2	2064	broad.mit.edu	37	17	37883113	37883113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:37883113C>T	ENST00000406381.2	+	27	3436	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ERBB2_ENST00000269571.5_Missense_Mutation_p.R1006C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R1006C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R976C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R730C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R991C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R976C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1006	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CACCTTCTACCGCTCACTGCT	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	58					0	0	0.132662	0	0
LRP1B	53353	broad.mit.edu	37	2	141359128	141359128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:141359128T>C	ENST00000389484.3	-	42	7851	c.6880A>G	c.(6880-6882)Acc>Gcc	p.T2294A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2294					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)		GTGTGTCTGGTGATGGATGAG	0.512000										TSP Lung(27;0.18)			9	29					0	0	0.047766	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211199	3211199	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:3211199G>A	ENST00000380059.3	-	12	1607	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A475A|SLC4A11_ENST00000539553.1_Silent_p.A459A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	475	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTTGAAAAAGGCATAAAGCG	0.532000													16	57					0	0	0.160694	0	0
IGHM	3507	broad.mit.edu	37	14	106322248	106322248	+	RNA	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr14:106322248C>T	ENST00000390559.2	-	0	75																											AGGCAGCCAACGGCCACGCTG	0.577000													7	9					0	0	0.029380	0	0
EBAG9	9166	broad.mit.edu	37	8	110575682	110575682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr8:110575682C>T	ENST00000531677.1	+	6	578	c.578C>T	c.(577-579)aCc>aTc	p.T193I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACTCCTACCTCCACTCCC	0.428000													47	138					0	0	0.139131	0	0
ZNF613	79898	broad.mit.edu	37	19	52443551	52443551	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:52443551C>T	ENST00000293471.6	+	4	784	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGTACCGAGACGTGATGTTGG	0.542000													26	102					0	0	0.134883	0	0
CELF1	10658	broad.mit.edu	37	11	47504267	47504267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:47504267G>T	ENST00000395290.2	-	6	673	c.664C>A	c.(664-666)Ctt>Att	p.L222I	CELF1_ENST00000395292.2_Missense_Mutation_p.L223I|CELF1_ENST00000310513.5_Missense_Mutation_p.L223I|CELF1_ENST00000361904.3_Missense_Mutation_p.L223I|CELF1_ENST00000532048.1_Missense_Mutation_p.L249I|CELF1_ENST00000531165.1_Missense_Mutation_p.L250I|CELF1_ENST00000358597.3_Missense_Mutation_p.L223I	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	223					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGGGGTCCAAGAGTATTTAGA	0.502000													10	33					3.07112e-06	3.42099e-06	0.080935	1	0
INTS8	55656	broad.mit.edu	37	8	95866050	95866050	+	Silent	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr8:95866050C>G	ENST00000523731.1	+	14	1792	c.1659C>G	c.(1657-1659)gtC>gtG	p.V553V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Silent_p.V553V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	553					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTTCTGTCTATAGTGGTG	0.333000													18	64					0	0	0.204396	0	0
TBX19	9095	broad.mit.edu	37	1	168274332	168274332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:168274332G>T	ENST00000367821.3	+	6	865	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	272					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCTGCCTGCTCCCCACAC	0.552000													22	54					7.41877e-09	8.59016e-09	0.234183	1	0
CYP8B1	1582	broad.mit.edu	37	3	42915828	42915828	+	Missense_Mutation	SNP	C	C	T	rs145159025	by1000genomes	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:42915828C>T	ENST00000316161.4	-	1	1805	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	494					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAGGCGGTAGCGGAAGCGCAC	0.582000													7	31					0	0	0.038147	0	0
MSLN	10232	broad.mit.edu	37	16	815614	815614	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:815614G>A	ENST00000566549.1	+	9	1209	c.792G>A	c.(790-792)ccG>ccA	p.P264P	MSLN_ENST00000382862.3_Silent_p.P264P|MSLN_ENST00000563941.1_Silent_p.P264P|MSLN_ENST00000545450.2_Silent_p.P264P			Q13421	MSLN_HUMAN	mesothelin	264	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGCATCCCGCAGGTGAGAC	0.706000													5	15					0	0	0.184627	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025296	176025296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:176025296C>T	ENST00000303991.4	-	2	1717	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	514						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCCGTCGCTGGCTCAGCC	0.627000													12	34					0	0	0.080935	0	0
SPTA1	6708	broad.mit.edu	37	1	158631136	158631136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:158631136G>A	ENST00000368148.3	-	18	2708	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A843V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	843					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCTGGCAATGTTCTC	0.423000													4	81					0	0	0.150653	0	0
CACNA1S	779	broad.mit.edu	37	1	201022706	201022706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:201022706C>T	ENST00000362061.3	-	30	3902	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1207K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1226					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGCACTCTCATCTGGGTCC	0.642000													3	35					0	0	0.115264	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035518	242035518	+	Missense_Mutation	SNP	A	A	C	rs71862226		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:242035518A>C	ENST00000391980.2	-	4	1099	c.1041T>G	c.(1039-1041)gaT>gaG	p.D347E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D159E	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	347			D -> E (in dbSNP:rs10203977).							endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tgtcctcctcatcatcgtcat	0.517000													22	28					0	0	0.234183	0	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390227	52390227	+	RNA	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:52390227C>A	ENST00000443374.1	+	0	920																											TGTTGTCTAGCAGATAAGATT	0.383000													3	8					0.004672	0.00483689	0.115264	1	0
LILRB1	10859	broad.mit.edu	37	19	55146110	55146110	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:55146110G>T	ENST00000396331.1	+	11	1736	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	LILRB1_ENST00000448689.1_Missense_Mutation_p.G460V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461V|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572000										HNSCC(37;0.09)			4	17					0.00024832	0.000260145	0.150653	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142479948	142479948	+	RNA	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr7:142479948G>A	ENST00000603901.1	+	0	80					NR_001296.3																						ATCGTTGGGGGCTACACCTGT	0.552000													14	88					0	0	0.160694	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:92715442C>T	ENST00000257068.2	+	2	1059	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567000													9	53					0	0	0.047766	0	0
GBA3	57733	broad.mit.edu	37	4	22820400	22820400	+	RNA	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:22820400A>T	ENST00000508166.1	+	0	1366				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	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	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423000													3	19					0	0	0.115264	0	0
THBS4	7060	broad.mit.edu	37	5	79336023	79336023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:79336023C>T	ENST00000350881.2	+	2	402	c.212C>T	c.(211-213)tCa>tTa	p.S71L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	71	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTAAAAGTTCAGCCACCATC	0.443000													11	31					0	0	0.069234	0	0
CLK2	1196	broad.mit.edu	37	1	155234031	155234031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:155234031G>A	ENST00000368361.4	-	11	1522	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R403W|CLK2_ENST00000361168.5_Missense_Mutation_p.R402W|CLK2_ENST00000355560.4_Missense_Mutation_p.R401W			P49760	CLK2_HUMAN	CDC-like kinase 2	403	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R403R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGATCATCCGGGAAGGGATA	0.443000								Other conserved DNA damage response genes					16	48					0	0	0.175082	0	0
ALDOC	230	broad.mit.edu	37	17	26902241	26902241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:26902241C>G	ENST00000226253.4	-	3	699	c.224G>C	c.(223-225)gGa>gCa	p.G75A	ALDOC_ENST00000395321.2_Missense_Mutation_p.G75A|ALDOC_ENST00000395319.3_Missense_Mutation_p.G75A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	75					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AATGACGCCTCCAATGCACTT	0.527000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0.047766	0	0
HIBCH	26275	broad.mit.edu	37	2	191116990	191116990	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:191116990G>A	ENST00000392332.3	-	8	700	c.561C>T	c.(559-561)ctC>ctT	p.L187L	HIBCH_ENST00000359678.5_Silent_p.L187L			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	187				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114).	branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTTTCCTTGGAGTCGTGGCA	0.363000													21	33					0	0	0.204396	0	0
LIN28B	389421	broad.mit.edu	37	6	105474273	105474273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:105474273C>G	ENST00000345080.4	+	3	502	c.299C>G	c.(298-300)aCa>aGa	p.T100R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	100	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATACGGGTAACAGGACCTGGT	0.403000													21	87					0	0	0.083992	0	0
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:106937929G>T	ENST00000369701.3	+	14	2234	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493000													4	34					0.00024832	0.000260145	0.150653	1	0
CSAD	51380	broad.mit.edu	37	12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr12:53554091G>A	ENST00000267085.4	-	14	1293	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Missense_Mutation_p.R180C|CSAD_ENST00000453446.2_Missense_Mutation_p.R327C|CSAD_ENST00000444623.1_Missense_Mutation_p.R327C|CSAD_ENST00000379846.1_Missense_Mutation_p.R180C	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCATGGCAGCGCTTGAGCAGG	0.602000													3	37					0	0	0.115264	0	0
ATP4A	495	broad.mit.edu	37	19	36048663	36048663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:36048663G>T	ENST00000262623.3	-	11	1615	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	529					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGATGGAGCTGCAGCGCTCCA	0.701000													4	11					1.024e-07	1.17029e-07	0.184627	1	0
HTR3B	9177	broad.mit.edu	37	11	113803665	113803665	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:113803665C>T	ENST00000260191.2	+	6	803	c.546C>T	c.(544-546)gaC>gaT	p.D182D	HTR3B_ENST00000537778.1_Silent_p.D171D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	182					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGGAAGACGTAGACCTGG	0.463000													3	51					0	0	0.115264	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904556	144904556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chrX:144904556A>T	ENST00000370490.1	+	1	4868	c.613A>T	c.(613-615)Att>Ttt	p.I205F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I205F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.I205F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	205						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGAACATATTGGAGGGAT	0.473000													19	128					0	0	0.189662	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661474	22661474	+	RNA	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr22:22661474C>T	ENST00000426066.1	+	0	364					NR_027293.1																						CCCTCAGATGCGTCTGAAGAA	0.493000													4	42					0	0	0.217242	0	0
TENM3	55714	broad.mit.edu	37	4	183676102	183676102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:183676102G>T	ENST00000511685.1	+	22	4705	c.4582G>T	c.(4582-4584)Ggt>Tgt	p.G1528C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1528C					teneurin transmembrane protein 3																		TGACATCAATGGTACTCACCA	0.383000													6	27					0.217242	0.219739	0.217242	1	0
ZNF616	90317	broad.mit.edu	37	19	52619658	52619658	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:52619658A>T	ENST00000600228.1	-	4	1020	c.759T>A	c.(757-759)aaT>aaA	p.N253K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAAAATATGAATTTTTTCTGA	0.398000													8	72					0	0	0.058154	0	0
NPHS2	7827	broad.mit.edu	37	1	179544754	179544754	+	Silent	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:179544754C>T	ENST00000367615.4	-	1	314	c.246G>A	c.(244-246)gcG>gcA	p.A82A	NPHS2_ENST00000367616.4_Silent_p.A82A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	82					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCAACAGCGCCACCACCT	0.672000													7	15					0	0	0.029380	0	0
ZNF536	9745	broad.mit.edu	37	19	30935483	30935483	+	Silent	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr19:30935483C>A	ENST00000355537.3	+	2	1161	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGCGGTGGCGAGCAGTCGG	0.652000													8	77					5.18039e-06	5.62808e-06	0.038147	1	0
CASP4	837	broad.mit.edu	37	11	104820329	104820329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:104820329C>T	ENST00000444739.2	-	5	1632	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CASP4_ENST00000393150.3_Missense_Mutation_p.R185H	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	241					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GAGGCAGTTGCGGTTGTTGAA	0.473000													14	77					0	0	0.119110	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	39					0	0	0.115264	0	0
POU3F2	5454	broad.mit.edu	37	6	99283616	99283616	+	Silent	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:99283616G>A	ENST00000328345.5	+	1	1037	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	289	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TTACCCAAGCGGACGTGGGGC	0.607000													39	153					0	0	0.117977	0	0
PCDH17	27253	broad.mit.edu	37	13	58207860	58207860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr13:58207860G>A	ENST00000377918.3	+	1	1206	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	394	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGTCCTAGGCGGAGGAGGGAc	0.692000													4	6					0	0	0.150653	0	0
DPP10	57628	broad.mit.edu	37	2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000310323.8_Missense_Mutation_p.L445M|DPP10_ENST00000409163.1_Missense_Mutation_p.L402M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452					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						AGGAAGGCAGCTGTACAGGTA	0.403000													17	41					1.00905e-13	1.19995e-13	0.204396	1	0
C3orf30	152405	broad.mit.edu	37	3	118865966	118865966	+	Silent	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:118865966G>C	ENST00000295622.1	+	1	970	c.930G>C	c.(928-930)gtG>gtC	p.V310V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	310										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCACCAAGTGTACGGCCAAG	0.493000													7	33					0	0	0.038147	0	0
SNRNP200	23020	broad.mit.edu	37	2	96942823	96942823	+	Missense_Mutation	SNP	G	G	A	rs150442718		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr2:96942823G>A	ENST00000323853.5	-	42	6165	c.6088C>T	c.(6088-6090)Cgc>Tgc	p.R2030C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2030	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTCACCTGCGGATGCTGTCC	0.552000													9	71					0	0	0.058154	0	0
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897_splice	c.e8+1	p.F299_splice	ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637000													7	29					0	0	0.038147	0	0
CES1	1066	broad.mit.edu	37	16	55860122	55860122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr16:55860122C>T	ENST00000422046.2	-	3	624	c.343G>A	c.(343-345)Gac>Aac	p.D115N	CES1_ENST00000361503.4_Missense_Mutation_p.D115N|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.D116N			P23141	EST1_HUMAN	carboxylesterase 1	115				D -> H (in Ref. 19; AAA83932).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TAAAGACAGTCTTCAGAAAGC	0.512000													27	103					0	0	0.091800	0	0
LAMP5	24141	broad.mit.edu	37	20	9510385	9510385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr20:9510385C>T	ENST00000246070.2	+	6	1253	c.761C>T	c.(760-762)gCg>gTg	p.A254V	LAMP5_ENST00000427562.2_Missense_Mutation_p.A210V	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	254						integral to membrane		p.A254V(1)									GTAACACTCGCGATTTACCAC	0.547000													7	39					0	0	0.038147	0	0
OSBPL8	114882	broad.mit.edu	37	12	76763056	76763056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr12:76763056C>T	ENST00000261183.3	-	21	2745	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D714N|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D714N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	756					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTATCATATCATTAAGTGGG	0.303000													8	42					0	0	0.069234	0	0
DOK6	220164	broad.mit.edu	37	18	67266711	67266711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr18:67266711C>T	ENST00000382713.5	+	3	456	c.266C>T	c.(265-267)tCg>tTg	p.S89L	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	89	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448000													8	29					0	0	0.047766	0	0
BAI2	576	broad.mit.edu	37	1	32193839	32193839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:32193839C>T	ENST00000373658.3	-	31	4800	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	BAI2_ENST00000257070.4_Missense_Mutation_p.E1453K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1453K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1387K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1486K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1420K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1475K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1402K|BAI2_ENST00000440175.2_Missense_Mutation_p.E1096K|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1487					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTTGAGCTCGTGGTAGAGT	0.637000													6	26					0	0	0.029380	0	0
ATAD5	79915	broad.mit.edu	37	17	29220528	29220528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr17:29220528G>C	ENST00000321990.4	+	21	5035	c.4657G>C	c.(4657-4659)Gaa>Caa	p.E1553Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1553					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAACACTCTGAAAGAGAACA	0.368000													19	28					0	0	0.204396	0	0
SYNE1	23345	broad.mit.edu	37	6	152674420	152674420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr6:152674420C>T	ENST00000367255.5	-	69	11832	c.11231G>A	c.(11230-11232)gGg>gAg	p.G3744E	SYNE1_ENST00000423061.1_Missense_Mutation_p.G3729E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3744E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3715E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3729E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3744					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)		CAATTTCTTCCCCATCATTAC	0.423000										HNSCC(10;0.0054)			38	149					0	0	0.235728	0	0
MLH1	4292	broad.mit.edu	37	3	37056031	37056031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr3:37056031C>G	ENST00000231790.2	+	9	1002	c.786C>G	c.(784-786)atC>atG	p.I262M	MLH1_ENST00000435176.1_Missense_Mutation_p.I164M|MLH1_ENST00000539477.1_Missense_Mutation_p.I21M|MLH1_ENST00000455445.2_Missense_Mutation_p.I21M|MLH1_ENST00000536378.1_Missense_Mutation_p.I21M|MLH1_ENST00000458205.2_Missense_Mutation_p.I21M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	262			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TACTCTTCATCAACCGTAAGT	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	25					0	0	0.058154	0	0
ABCC8	6833	broad.mit.edu	37	11	17428629	17428629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:17428629G>A	ENST00000302539.4	-	25	3096	c.2971C>T	c.(2971-2973)Cac>Tac	p.H991Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H990Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	990					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCACGCTGGTGCAGCATGGAC	0.607000													8	23					0	0	0.047766	0	0
FREM1	158326	broad.mit.edu	37	9	14740170	14740170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr9:14740170C>G	ENST00000380881.4	-	37	7135	c.6320G>C	c.(6319-6321)gGt>gCt	p.G2107A	FREM1_ENST00000380880.3_Missense_Mutation_p.G2106A|FREM1_ENST00000380894.1_Missense_Mutation_p.G642A|FREM1_ENST00000422223.2_Missense_Mutation_p.G2106A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2106	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCTCCCACCAATGTCCCA	0.502000													11	162					0	0	0.105934	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263705	140263705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr5:140263705G>A	ENST00000289272.2	+	1	1852	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A618T|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTCGGCGCGCGCATCCC	0.687000													25	48					0	0	0.083992	0	0
EPHA2	1969	broad.mit.edu	37	1	16464477	16464478	+	Frame_Shift_Ins	INS	-	-	G	rs139909813		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr1:16464477_16464478insG	ENST00000358432.5	-	5	1336_1337	c.1182_1183insC	c.(1180-1185)cgccagfs	p.Q395fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	395	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTCACACTGGTGCGGGTCAGTC	0.644													9	9	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153247377	153247379	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr4:153247377_153247379delAAC	ENST00000281708.4	-	10	2652_2654	c.1423_1425delGTT	c.(1423-1425)del	p.V475del	FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del|FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	475					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGAACCGCTAACAACTCTGCAG	0.389			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	60	---	---	---	---					
DAB2IP	153090	broad.mit.edu	37	9	124522529	124522529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:124522529delG	ENST00000408936.3	+	6	1163	c.981delG	c.(979-981)atfs	p.M327fs	DAB2IP_ENST00000309989.1_Frame_Shift_Del_p.M203fs|DAB2IP_ENST00000259371.2_Frame_Shift_Del_p.M299fs			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	327					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGACCCATGATCCGCATCA	0.622													16	12	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													2	4	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274164	119274164	+	RNA	DEL	A	A	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chr11:119274164delA	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NR_034160.1																						ttttttttttATCTCATGCAG	0.348													2	4	---	---	---	---					
GABRE	2564	broad.mit.edu	37	X	151138747	151138752	+	In_Frame_Del	DEL	CAGTCT	CAGTCT	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	dabfb4d4-709e-497b-904c-d91d22ec5b55	g.chrX:151138747_151138752delCAGTCT	ENST00000370325.1	-	2	232_237	c.179_184delAGACTG	c.(178-186)ggg>g	p.ETG60del	GABRE_ENST00000370328.3_In_Frame_Del_p.ETG60del|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTGCTCCCAGTCTCAGTCTCAGT	0.519													38	138	---	---	---	---					
EPHA2	1969	broad.mit.edu	37	1	16464477	16464478	+	Frame_Shift_Ins	INS	-	-	G	rs139909813		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr1:16464477_16464478insG	ENST00000358432.5	-	5	1336_1337	c.1182_1183insC	c.(1180-1185)cgccagfs	p.Q395fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	395	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTCACACTGGTGCGGGTCAGTC	0.644													9	9	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153247377	153247379	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr4:153247377_153247379delAAC	ENST00000281708.4	-	10	2652_2654	c.1423_1425delGTT	c.(1423-1425)del	p.V475del	FBXW7_ENST00000296555.5_In_Frame_Del_p.V357del|FBXW7_ENST00000263981.5_In_Frame_Del_p.V395del|FBXW7_ENST00000603841.1_In_Frame_Del_p.V475del|FBXW7_ENST00000603548.1_In_Frame_Del_p.V475del|FBXW7_ENST00000393956.3_In_Frame_Del_p.V299del	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	475					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAGAACCGCTAACAACTCTGCAG	0.389			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	60	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51814320	51814320	+	RNA	DEL	A	A	-	rs11306955		TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr10:51814320delA	ENST00000456967.1	-	0	1657					NR_038275.1																						AACTCTATTGAGAAAAACCTG	0.358													8	8	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274164	119274164	+	RNA	DEL	A	A	-			TCGA-CV-7425-01A-11D-2078-08	TCGA-CV-7425-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8cc6696-91d0-4eba-a765-ef7d044238ce	cf149007-ed33-4a5d-a925-193a5d670349	g.chr11:119274164delA	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NR_034160.1																						ttttttttttATCTCATGCAG	0.348													2	4	---	---	---	---					
