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
IGHV4-39	28394	broad.mit.edu	37	14	106878027	106878027	+	RNA	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106878027A>G	ENST00000390619.2	-	0	99																											AGCCGCCACCAGCAGGAGGAA	0.488000													6	8					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186037070	186037070	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:186037070C>T	ENST00000271588.4	+	50	8039	c.7810C>T	c.(7810-7812)Cca>Tca	p.P2604S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2604S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2604	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						TTCATATCCTCCAGCTACCAT	0.428000													27	124					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667097	72667097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:72667097G>A	ENST00000373514.2	+	1	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACGATGTACGGAAGCTGTCTT	0.577000													23	25					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918356	15918356	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15918356G>A	ENST00000334920.2	-	1	580	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGCGAGGTGGAAAATGGCCG	0.612000													21	66					0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403833	28403833	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28403833C>T	ENST00000289788.4	-	2	356	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	71	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TGGCAGAGCTCCTGGAGTCTT	0.552000													16	56					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53073541	53073541	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:53073541C>T	ENST00000252244.3	-	1	650		c.e1+1			NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1						complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAGAAACTCACCTTGTCAATG	0.468000													33	71					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57134298	57134298	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:57134298G>A	ENST00000376149.3	-	13	1580	c.771C>T	c.(769-771)ttC>ttT	p.F257F	TRIM37_ENST00000393066.3_Silent_p.F379F|TRIM37_ENST00000262294.7_Silent_p.F379F|TRIM37_ENST00000393065.2_Silent_p.F345F			O94972	TRI37_HUMAN	tripartite motif containing 37	379						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTCCAAACGGAAAAATCTAT	0.353000									Mulibrey Nanism				10	54					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111958967	111958967	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:111958967C>T	ENST00000369732.3	-	10	1189	c.1134G>A	c.(1132-1134)ttG>ttA	p.L378L	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	378					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGATATCATTCAATACGTAGA	0.542000													23	43					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301650	18301650	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:18301650G>A	ENST00000441493.2	-	26	4129	c.3777C>T	c.(3775-3777)ccC>ccT	p.P1259P		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1259	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGAGCAGATGGGGAGTGGGC	0.692000													11	23					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47788754	47788754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:47788754G>A	ENST00000273857.4	-	3	396	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.H133Y|CORIN_ENST00000505909.1_Missense_Mutation_p.H133Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	133					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTATTCCTGTGACTTTGGTCC	0.443000													17	47					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438589	37438589	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:37438589G>A	ENST00000374660.1	+	10	1485	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ANKRD30A_ENST00000361713.1_Silent_p.K462K|ANKRD30A_ENST00000602533.1_Silent_p.K462K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	518						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCCTCCTAAGAAGCCATCTG	0.294000													14	91					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258350	18258350	+	Silent	SNP	C	C	T	rs142907544		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:18258350C>T	ENST00000286479.3	+	2	944	c.837C>T	c.(835-837)ctC>ctT	p.L279L	NAT2_ENST00000520116.1_Silent_p.L149L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	279					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GGAGAAATCTCGTGCCCAAAC	0.373000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				17	49					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22642702	22642702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:22642702G>A	ENST00000361524.3	-	8	4058	c.3910C>T	c.(3910-3912)Cat>Tat	p.H1304Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.H1084Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1304Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1304					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCATTGTATGATTCTGTAAA	0.318000			T	PAX5	ALL								6	25					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783764	10783764	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:10783764C>T	ENST00000075503.3	-	5	851	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	111						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GAGAGTTGCTCCCGCGGCACC	0.537000										HNSCC(73;0.22)			25	44					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20404440G>A	ENST00000285600.4	+	1	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGCCTGATATCATTGA	0.438000													31	104					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	171119	171119	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:171119G>A	ENST00000323434.8	-	4	762	c.165C>T	c.(163-165)atC>atT	p.I55I	RPH3AL_ENST00000331302.7_Silent_p.I55I|RPH3AL_ENST00000536489.2_Silent_p.I55I	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	55	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGACCTGCAGGATGGCCTCCA	0.677000													21	53					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19051715	19051715	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:19051715C>T	ENST00000421369.3	+	9	1512	c.954C>T	c.(952-954)atC>atT	p.I318I	TMC7_ENST00000569532.1_Silent_p.I428I|TMC7_ENST00000304381.5_Silent_p.I428I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	428						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGCCAAGATCATCCGCTATG	0.443000													27	55					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232663	71232663	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71232663C>T	ENST00000226460.4	+	3	453	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	119	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCATTTTTCCCTGTAAATT	0.512000													42	69					0	0	1	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718825	1718825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:1718825C>T	ENST00000382160.1	+	1	401	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	117						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTCCCAGGCCAGCTGCTGT	0.587000													51	74					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160811739	160811739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:160811739C>T	ENST00000283243.7	-	23	3478	c.3272G>A	c.(3271-3273)gGc>gAc	p.G1091D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G1091D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1091	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAACCCATAGCCTTCCTTTCC	0.353000													14	54					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000													171	262					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8565084	8565084	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:8565084G>A	ENST00000262648.3	-	4	681	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	178					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CCTTTGTACAGAGTCTTGGGT	0.502000													7	18					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030689	154030689	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:154030689C>T	ENST00000368559.3	-	22	3054	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E995K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	995						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTCTATTTCAACCTAGTAG	0.373000													29	103					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10395837C>T	ENST00000226207.5	-	40	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1906						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000													66	122					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60470992	60470992	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:60470992C>T	ENST00000450662.2	+	7	581	c.510C>T	c.(508-510)ttC>ttT	p.F170F	EFCAB3_ENST00000305286.3_Silent_p.F118F	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	118							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGAATCTCTTCCTCAAGGCAG	0.448000													17	42					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932869	32932869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:32932869C>T	ENST00000383763.4	+	4	2236	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	725					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACCGGATCCAGCTGTTTGG	0.542000													9	31					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142676	35142676	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:35142676G>A	ENST00000436258.1	-	0	1811																											TTATCAAAACGAACTCTGCGA	0.338000													14	32					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276671	114276671	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:114276671C>T	ENST00000357077.4	+	38	6950	c.6897C>T	c.(6895-6897)gaC>gaT	p.D2299D	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.D2266D|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2266					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACTGAGGACTCAGAGACCT	0.488000													16	44					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500436	102500436	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:102500436T>C	ENST00000360184.4	+	55	10701	c.10537T>C	c.(10537-10539)Ttc>Ctc	p.F3513L	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3513					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCAGCTGCGTTCATTGCCTA	0.488000													50	136					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2124231	2124231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:2124231C>T	ENST00000219476.3	+	22	3016	c.2386C>T	c.(2386-2388)Ctc>Ttc	p.L796F	TSC2_ENST00000439673.2_Missense_Mutation_p.L759F|TSC2_ENST00000353929.4_Missense_Mutation_p.L796F|TSC2_ENST00000382538.6_Missense_Mutation_p.L747F|TSC2_ENST00000568454.1_Missense_Mutation_p.L807F|TSC2_ENST00000401874.2_Missense_Mutation_p.L796F|TSC2_ENST00000350773.4_Missense_Mutation_p.L796F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	796					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.E793fs*9(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGCAGGGCCTCATCCACCG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				8	26					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700863	136700863	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:136700863C>T	ENST00000445907.2	+	3	1779	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.I417I|CHRM2_ENST00000453373.1_Silent_p.I417I|CHRM2_ENST00000401861.1_Silent_p.I417I|CHRM2_ENST00000402486.3_Silent_p.I417I|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.I417I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	417					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CACCTTGCATCCCCAACACTG	0.463000													46	110					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917576	144917576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:144917576G>A	ENST00000529945.1	-	8	2456	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAAGACGAAGCTGGCGC	0.443000			T	PDGFRB	MPD								59	387					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550790	167550790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:167550790C>T	ENST00000341935.5	+	3	1624	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	CCR6_ENST00000349984.4_Missense_Mutation_p.R358W|CCR6_ENST00000400926.2_Missense_Mutation_p.R358W	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	358					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AAACATTTCTCGGCAGACCAG	0.468000													4	51					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047574	73047574	+	RNA	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73047574A>C	ENST00000604411.1	+	0	35535				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTGACCCAAAAAGGAGACATG	0.388000													2	7					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501510	73501510	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:73501510C>T	ENST00000224721.6	+	37	4697	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1559	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCGGGATCAACAGTGTTC	0.602000													5	8					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008399	71008399	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:71008399G>A	ENST00000354624.5	+	10	1618	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Silent_p.L495L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	495					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCTGAGCTGGAGTATGGGC	0.662000													6	19					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062972	55062972	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:55062972C>T	ENST00000526016.1	-	0	665					NR_038174.2																						GGCACATTTTCTTCAGATCCT	0.438000													15	23					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163124007	163124007	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:163124007G>A	ENST00000263642.2	-	15	3275	c.2880C>T	c.(2878-2880)atC>atT	p.I960I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	960					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTTGCAGATGATTTCACCAT	0.368000													26	81					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124511	71124511	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:71124511G>A	ENST00000299213.8	-	3	1426	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	452					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGAGCAGGGGACTCGTAC	0.627000													32	88					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021859	96021859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:96021859C>T	ENST00000297954.4	+	11	3029	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L	WNK2_ENST00000349097.3_Missense_Mutation_p.P622L|WNK2_ENST00000395477.2_Missense_Mutation_p.P1010L|WNK2_ENST00000427277.2_Missense_Mutation_p.P622L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1010					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCACCTTCCTGAACAAGCT	0.677000													2	5					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325350	47325350	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:47325350G>A	ENST00000505841.1	-	0	1179					NR_002788.2																						CGTCCATCTGGAAAGGTAATG	0.433000													7	145					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599181	57599181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57599181G>A	ENST00000243077.3	+	74	11849	c.11383G>A	c.(11383-11385)Gag>Aag	p.E3795K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3795	EGF-like 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACGAGGCACGCTG	0.682000													4	23					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36083473	36083473	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:36083473A>G	ENST00000377966.3	+	8	1117	c.551A>G	c.(550-552)gAa>gGa	p.E184G	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	184	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAAGCAGTGGAAAATTATTGC	0.393000													23	44					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25270077	25270077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:25270077G>A	ENST00000264864.6	+	8	1280	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.W268*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	364	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CCATTTCACTGGGCTTGGCTT	0.348000													13	25					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29476278	29476278	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:29476278C>T	ENST00000434693.2	+	2	817	c.117C>T	c.(115-117)ccC>ccT	p.P39P	RBMS3_ENST00000445033.1_Silent_p.P40P|RBMS3_ENST00000273139.9_Silent_p.P40P|RBMS3_ENST00000452462.1_Silent_p.P40P|RBMS3_ENST00000383767.2_Silent_p.P40P|RBMS3_ENST00000456853.1_Silent_p.P40P|RBMS3_ENST00000383766.2_Silent_p.P39P|RBMS3_ENST00000396583.3_Silent_p.P40P	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	40						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTCCCAGCCCCAGCACAaaca	0.542000													31	62					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000													82	218					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412091	65412091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:65412091C>T	ENST00000519389.1	+	7	1524	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	HEPH_ENST00000441993.2_Missense_Mutation_p.P398S|HEPH_ENST00000374727.3_Missense_Mutation_p.P398S|HEPH_ENST00000336279.5_Missense_Mutation_p.P128S|HEPH_ENST00000343002.2_Missense_Mutation_p.P395S|HEPH_ENST00000419594.1_Missense_Mutation_p.P398S			Q9BQS7	HEPH_HUMAN	hephaestin	395	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACTATGGCCCGATGGGGCA	0.517000													16	23					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030861	10030861	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:10030861G>A	ENST00000378380.3	+	6	1972		c.e6+1		ANKEF1_ENST00000488991.1_Splice_Site|ANKEF1_ENST00000378392.1_Splice_Site|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TTGAAAAAGGGTACGCGTCTC	0.398000													12	38					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47768181	47768181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:47768181G>A	ENST00000371828.3	-	5	692	c.205C>T	c.(205-207)Cac>Tac	p.H69Y	STAU1_ENST00000371802.1_Missense_Mutation_p.H69Y|STAU1_ENST00000340954.7_Missense_Mutation_p.H69Y|STAU1_ENST00000371856.2_Missense_Mutation_p.H150Y|STAU1_ENST00000360426.4_Missense_Mutation_p.H69Y|STAU1_ENST00000347458.5_Missense_Mutation_p.H69Y|STAU1_ENST00000371792.1_Missense_Mutation_p.H69Y	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	150						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCAGCATCGTGTTTCGCAGCC	0.517000													21	62					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46681159	46681159	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:46681159A>C	ENST00000381031.3	+	9	893	c.817A>C	c.(817-819)Acc>Ccc	p.T273P	TTC38_ENST00000445282.2_Missense_Mutation_p.T215P	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	273							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GGCCGCGCTGACCATCTACGA	0.468000													14	53					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16033225	16033225	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16033225C>T	ENST00000326742.7	-	7	935	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	CYP4F11_ENST00000402119.3_Missense_Mutation_p.E312K|CYP4F11_ENST00000248041.7_Missense_Mutation_p.E312K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	312					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCAGACAATTCCTTCCCATCT	0.502000													45	147					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222743949	222743949	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:222743949C>T	ENST00000350027.4	-	6	816	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_Silent_p.K107K|TAF1A_ENST00000352967.4_Silent_p.K221K|TAF1A_ENST00000543857.1_Silent_p.K221K|TAF1A_ENST00000366890.1_Silent_p.K107K	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	221					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTGCAGATGTCTTCCAGCTGT	0.343000													58	57					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102316	168102316	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:168102316G>A	ENST00000409195.1	+	9	4503	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1472K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1250K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAGAATATGAAAATATCAA	0.378000													20	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073396	9073396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9073396C>T	ENST00000397910.4	-	3	14253	c.14050G>A	c.(14050-14052)Ggg>Agg	p.G4684R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4686	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAAGACCCTGTCTGGGTG	0.483000													38	112					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													20	49					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43585097	43585097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43585097G>A	ENST00000372813.3	-	2	309	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	53					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTGGAGTAGAGAACACTTTCT	0.468000													50	166					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153924272	153924272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:153924272G>A	ENST00000369575.3	-	8	1478	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.P484S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	483										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTCTTTCTGGAGAGAGAAAG	0.383000													16	21					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:9264799G>A	ENST00000318602.7	-	4	746	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000													14	33					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64525970	64525970	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:64525970C>T	ENST00000164139.3	-	3	761	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	121					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCTCCAGCTCCTCCATGTCCA	0.662000													32	56					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385680	100385680	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100385680G>A	ENST00000542585.1	+	0	7294				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCGCCCAGGAGCTCCATCT	0.572000													25	39					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924775	10924775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:10924775G>A	ENST00000283141.6	+	15	1415	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SYCP2L_ENST00000543878.1_Missense_Mutation_p.M214I|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	373						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAAGCCCATGATTATCAGCT	0.313000													7	26					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96224935	96224935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:96224935C>T	ENST00000437043.3	+	5	1607	c.896C>T	c.(895-897)gCt>gTt	p.A299V	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.A299V|ERAP2_ENST00000379904.4_Missense_Mutation_p.A254V	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	299					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ACACATTATGCTTTGCAGGCA	0.398000													26	46					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746144	140746144	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140746144C>T	ENST00000518069.1	+	1	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.617000													40	126					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59813483	59813483	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59813483C>T	ENST00000288228.5	+	9	1200	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	338										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AGCATAGGATCCCTCAGGCAA	0.443000													11	28					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26851265	26851265	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26851265A>G	ENST00000376236.4	+	14	1835	c.1380A>G	c.(1378-1380)acA>acG	p.T460T	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	460					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GACCTAAAACAGGCACCACCC	0.453000													96	222					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970406	123970406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:123970406G>A	ENST00000369005.1	+	9	6806	c.6466G>A	c.(6466-6468)Gag>Aag	p.E2156K	TACC2_ENST00000260733.3_Missense_Mutation_p.E234K|TACC2_ENST00000358010.1_Missense_Mutation_p.E302K|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.E302K|TACC2_ENST00000360561.3_Missense_Mutation_p.E234K|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.E2160K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2160K|TACC2_ENST00000368999.1_Missense_Mutation_p.E234K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2111K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2156K|TACC2_ENST00000369004.3_Missense_Mutation_p.E234K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2156						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACGCAACAGGAGCCAGATGA	0.517000													55	171					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129544	83129544	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:83129544C>T	ENST00000329312.4	+	4	1865	c.1828C>T	c.(1828-1830)Cct>Tct	p.P610S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	610	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCACCACTCCCTGCTTGTGA	0.448000													14	29					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7179793	7179793	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:7179793C>T	ENST00000320892.6	+	9	1223	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	261						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGCTGCTGCTCTTGGTGGC	0.517000													45	119					0	0	1	0	0
MIR487A	619555	broad.mit.edu	37	14	101518782	101518782	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:101518782C>T	ENST00000384827.1	+	0	0					NR_030162.1																						CGTCAGCCTTCGGTACTTGAA	0.498000													9	19					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48018166	48018166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:48018166C>T	ENST00000234420.4	+	2	513	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	121	PWWP.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACATTCATCCGCGAGAAAGG	0.473000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				42	81					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185577	127185577	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:127185577G>A	ENST00000371124.3	-	1	805	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	203						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTATGCAAGGGAAGTTAAACC	0.537000													40	68					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	G	rs121913396		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:41266098A>G	ENST00000349496.5	+	3	375	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTTACCTGGACTCTGGAATC	0.483000	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	39					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74711961	74711961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:74711961G>A	ENST00000261980.2	+	3	639	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	183					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TGCTGGCCATGAAAACGGAGC	0.577000													16	30					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370397	86370397	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:86370397C>T	ENST00000400286.2	-	2	845	c.247G>A	c.(247-249)Gac>Aac	p.D83N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	83						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCAGAAAAGTCATTTGTGTGA	0.388000													64	90					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118089	120118089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:120118089G>A	ENST00000332843.2	+	6	534	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	165	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATCGTGCAGGAAGAGAAGAA	0.458000													11	31					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526324	150526324	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:150526324C>T	ENST00000271643.4	+	6	1093	c.857C>T	c.(856-858)tCc>tTc	p.S286F	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S286F|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S286F|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S286F|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	286					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGCCAAGTTCCCAGGGTTGG	0.667000													13	23					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799290	209799290	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:209799290G>A	ENST00000391911.1	-	13	2068	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	LAMB3_ENST00000367030.3_Missense_Mutation_p.T560I|LAMB3_ENST00000356082.4_Missense_Mutation_p.T560I	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	560	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCGGGGCCCGGTCAAGCCAGG	0.642000													21	16					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787321	167787321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:167787321C>T	ENST00000367848.1	-	31	4692	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	ADCY10_ENST00000545172.1_Missense_Mutation_p.E1338K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.E1491K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1491					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGAGTAGCTCCTCCCCACTG	0.403000													32	27					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934761	30934761	+	Missense_Mutation	SNP	G	G	A	rs139989586		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:30934761G>A	ENST00000355537.3	+	2	439	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G98W(1)		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)					CAGCCTCAACGGGAGGGTGGA	0.652000													10	20					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138849	126138849	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:126138849G>A	ENST00000299308.3	+	9	2838	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D456N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	944						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTCCCACGACTGGGTCTG	0.517000													22	77					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51934282	51934282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:51934282C>T	ENST00000371117.3	-	11	1026	c.751G>A	c.(751-753)Gat>Aat	p.D251N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D251N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	251					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAAGATCCTGTTTAGCA	0.438000													40	114					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12845062	12845062	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:12845062G>A	ENST00000456430.2	+	2	185	c.144G>A	c.(142-144)aaG>aaA	p.K48K	CAND2_ENST00000295989.5_Silent_p.K48K	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	48					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGAGCGCAAGGTGGTGAAGA	0.607000													6	24					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712369	121712369	+	Silent	SNP	A	A	G	rs148486121		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121712369A>G	ENST00000273691.3	-	6	1200	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ILDR1_ENST00000344209.5_Silent_p.N409N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.N377N|ILDR1_ENST00000393631.1_Silent_p.N320N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	409						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGGTGACCCATTCAGCCTAG	0.612000													10	30					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436535	16436535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:16436535G>A	ENST00000380672.4	-	6	1714	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	BNC2_ENST00000380667.2_Missense_Mutation_p.P486S|BNC2_ENST00000380666.2_Missense_Mutation_p.P553S|BNC2_ENST00000545497.1_Missense_Mutation_p.P458S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	553	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTAGGGAGAGGATTTTGCAAG	0.488000													28	78					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877907	4877907	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:4877907C>T	ENST00000298375.7	+	4	436	c.365C>T	c.(364-366)tCc>tTc	p.S122F	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.S122F|AKR1E2_ENST00000532248.1_Missense_Mutation_p.S122F|AKR1E2_ENST00000334019.4_Missense_Mutation_p.S122F	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	122						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGTGAACTTTCCTTCTGCCTC	0.483000													13	36					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450752	41450752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:41450752G>A	ENST00000400454.1	-	26	5050	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1525	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGTCCTCTGAGCTGTGGTC	0.582000													9	20					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806181	160806181	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:160806181C>T	ENST00000283243.7	-	25	3853	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G1216E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1216	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGCCAGCGTCCGTTGCTGTC	0.453000													13	46					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521165	39521165	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39521165C>T	ENST00000251646.3	-	6	1012	c.963G>A	c.(961-963)gtG>gtA	p.V321V		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	321	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCTGGGACTCCACGTTGGTGA	0.617000													23	43					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080485	30080485	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:30080485T>G	ENST00000376734.3	-	2	223	c.98A>C	c.(97-99)cAc>cCc	p.H33P	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.H33P	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	33						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GCAGAAATTGTGCCCACAGTC	0.483000													28	73					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665120	157665120	+	Splice_Site	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:157665120T>G	ENST00000368184.3	-	8	1701	c.1411_splice	c.e8+1	p.T470_splice	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Splice_Site_p.T470_splice	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	470	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTTGCTTACCTGTGACCCTGA	0.478000													48	196					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76419325	76419325	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:76419325C>T	ENST00000370014.3	+	20	3418	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.F926F|SENP6_ENST00000447266.2_Silent_p.F933F	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	933	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCGTCGACTTCTCAGAAGATC	0.358000													11	31					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:51900950G>A	ENST00000268919.4	+	1	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000													37	66					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14758216	14758216	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:14758216G>A	ENST00000403951.2	-	6	836	c.417C>T	c.(415-417)gtC>gtT	p.V139V	DGKB_ENST00000399322.3_Silent_p.V139V|DGKB_ENST00000406247.3_Silent_p.V139V|DGKB_ENST00000407950.1_Silent_p.V132V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.V139V|DGKB_ENST00000402815.1_Silent_p.V139V|DGKB_ENST00000444700.2_Silent_p.V132V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	139					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)	ACAGGTAACAGACAATGTCCT	0.453000													16	28					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431454	140431454	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140431454C>T	ENST00000306549.3	+	1	476	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		133	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGTTTTCCTAAACAAGG	0.537000													15	31					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379576	38379576	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:38379576G>A	ENST00000396884.2	-	2	498	c.216C>T	c.(214-216)atC>atT	p.I72I	SOX10_ENST00000360880.2_Silent_p.I72I|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	72						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGGCCTCGCGGATGCACACGG	0.687000													4	11					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012157	129012157	+	Splice_Site	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:129012157T>C	ENST00000326639.6	+	6	571	c.358_splice	c.e6-1	p.S120_splice	LARP1B_ENST00000512292.1_Splice_Site_p.S120_splice|LARP1B_ENST00000441387.1_Splice_Site_p.S120_splice|LARP1B_ENST00000264584.5_Splice_Site_p.G73_splice|LARP1B_ENST00000432347.2_Splice_Site_p.S120_splice|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Splice_Site_p.S120_splice|LARP1B_ENST00000394288.3_Splice_Site_p.S120_splice	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	120	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ttttaaaaGGTTGGAAGCGAG	0.353000													15	40					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237200	22237200	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22237200G>A	ENST00000390428.3	+	0	284																											ACGTGAAAATGAGAAAGAAAA	0.443000													33	72					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420145	203420145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:203420145C>A	ENST00000374580.4	+	12	2296	c.1757C>A	c.(1756-1758)tCa>tAa	p.S586*	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	586					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AACCGAAATTCAATTAACTAT	0.448000													22	66					2.21704e-12	2.24941e-12	1	1	0
SWSAP1	126074	broad.mit.edu	37	19	11486227	11486227	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:11486227T>C	ENST00000312423.2	+	2	284	c.225T>C	c.(223-225)ctT>ctC	p.L75L		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	75																	CCCGAGAGCTTTTCCGGCTCC	0.597000													62	187					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563932	176563932	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176563932C>T	ENST00000367662.3	+	3	2356	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P398S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	398					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGAACAGCCCCTTCATGGC	0.587000													24	94					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235997	34235997	+	RNA	SNP	T	T	C	rs11657908	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:34235997T>C	ENST00000587132.1	-	0	2030																											GGATGTGTCATTTCAGGATGC	0.473000													5	68					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8051978	8051978	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:8051978G>A	ENST00000317276.4	-	8	1269	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PER1_ENST00000581082.1_Silent_p.I324I|PER1_ENST00000354903.5_Silent_p.I328I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	344					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AACCCGAATGGATGCGCTCTG	0.607000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					31	82					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132658	37132658	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:37132658C>T	ENST00000361487.6	+	2	786	c.561C>T	c.(559-561)gcC>gcT	p.A187A	PAX9_ENST00000402703.2_Silent_p.A187A|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	187	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTTCGGTGGCCATGCCGCGCA	0.687000													19	32					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151813	3151813	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3151813C>T	ENST00000262958.3	+	4	852	c.594C>T	c.(592-594)tcC>tcT	p.S198S	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	198					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACTGCTTCTCCGTGCAGAAAA	0.652000													14	54					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16790836	16790836	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16790836C>T	ENST00000187762.2	+	2	257	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	56						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGCGTCCTGGCTGTGCGCCAT	0.607000													7	26					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825002	4825002	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:4825002G>A	ENST00000380382.1	-	1	845	c.846C>T	c.(844-846)ctC>ctT	p.L282L	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.L203L|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCACAAAGAGCCCATTCC	0.498000													15	27					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661762	6661762	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6661762G>A	ENST00000299441.3	-	2	1494	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	361	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAGTCATGGAGGGCTGAT	0.582000													22	32					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681845	91681845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681845C>T	ENST00000518868.1	+	16	2351	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	C14orf159_ENST00000428926.2_Missense_Mutation_p.P549L|C14orf159_ENST00000256324.10_Missense_Mutation_p.P554L|C14orf159_ENST00000525393.2_Missense_Mutation_p.P425L|C14orf159_ENST00000412671.2_Missense_Mutation_p.P554L|C14orf159_ENST00000523816.1_Missense_Mutation_p.P549L|C14orf159_ENST00000523771.1_Missense_Mutation_p.P549L|C14orf159_ENST00000522322.1_Missense_Mutation_p.P549L|C14orf159_ENST00000521077.2_Missense_Mutation_p.P514L|C14orf159_ENST00000520328.1_Missense_Mutation_p.P497L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	549						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCAGTCGGACCCTCCAGGGCA	0.587000													14	64					0	0	1	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55324687	55324687	+	Missense_Mutation	SNP	A	A	G	rs1135578		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55324687A>G	ENST00000396284.2	+	6	808	c.808A>G	c.(808-810)Agc>Ggc	p.S270G	KIR2DL4_ENST00000359085.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AAAAAAAGTAAGCCTCACGAA	0.537000													10	41					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944941	117944941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:117944941C>T	ENST00000356554.3	+	2	1171	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	146					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TAAGGTAGTCCAAGAAATGAA	0.403000													15	40					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157430	231157430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:231157430G>A	ENST00000392045.3	+	20	2009	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	SP140_ENST00000417495.3_Missense_Mutation_p.G518E|SP140_ENST00000350136.5_Missense_Mutation_p.G501E|SP140_ENST00000486687.2_Missense_Mutation_p.G556E|SP140_ENST00000420434.3_Missense_Mutation_p.G605E|SP140_ENST00000343805.6_Missense_Mutation_p.G572E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	632	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAATCAAAGGAGGCCATGCA	0.522000													34	59					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92940548	92940548	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:92940548T>C	ENST00000544910.1	+	21	1949	c.1729T>C	c.(1729-1731)Tta>Cta	p.L577L	CCDC132_ENST00000535481.1_Silent_p.L327L|CCDC132_ENST00000317751.6_Silent_p.L338L|CCDC132_ENST00000541136.1_Silent_p.L418L|CCDC132_ENST00000305866.5_Silent_p.L607L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	607										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCACCTATCTTAACAAATAC	0.308000													46	92					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167644	27167644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:27167644C>T	ENST00000288699.6	+	12	1719	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R521W	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	521					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGTCACCCGGCATGGGGG	0.637000													32	66					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604581	90604581	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90604581G>A	ENST00000369352.1	+	1	394	c.394G>A	c.(394-396)Gat>Aat	p.D132N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	132					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAAAGAATAGATAGGGAACT	0.473000													22	41					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21175805	21175805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21175805C>T	ENST00000381541.3	+	5	568	c.503C>T	c.(502-504)tCa>tTa	p.S168L	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S168L|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.S121L|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron																							GAATCTGGGTCACACATGTGG	0.353000													19	94					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5041226	5041226	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:5041226C>T	ENST00000159111.4	+	5	614	c.396C>T	c.(394-396)atC>atT	p.I132I	KDM4B_ENST00000381759.4_Silent_p.I132I|KDM4B_ENST00000536461.1_Silent_p.I132I	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	132					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTCCCCGATCTACGGGGCTG	0.557000													29	98					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	206972262	206972262	+	Missense_Mutation	SNP	C	C	T	rs143483780	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:206972262C>T	ENST00000340758.2	+	1	48	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAGCGTTTCCGCACAGATCT	0.483000													20	29					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1032271	1032271	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:1032271T>C	ENST00000296849.5	+	4	375	c.146T>C	c.(145-147)cTg>cCg	p.L49P	NKD2_ENST00000537972.1_Missense_Mutation_p.L49P|NKD2_ENST00000274150.4_Missense_Mutation_p.L49P	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	49	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCAGGAGCTGCCCAATGGG	0.662000													36	63					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41930299	41930299	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:41930299C>T	ENST00000317310.4	+	3	440	c.399C>T	c.(397-399)tcC>tcT	p.S133S	CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000539718.1_Silent_p.S133S|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000293396.8_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	133						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCTCCCTCCCCTTCTCCCA	0.582000													38	104					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20181737	20181737	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:20181737C>T	ENST00000263754.4	+	13	2340	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	629	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AATTAAAATACCTAAAACCAA	0.368000													9	45					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111120	11111120	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:11111120G>A	ENST00000304623.8	-	14	2502	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	CTNND2_ENST00000503622.1_Silent_p.L434L|CTNND2_ENST00000458100.2_Silent_p.L338L|CTNND2_ENST00000359640.2_Silent_p.L771L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.L680L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	771					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCGGTACGAGAGGTTCCTTA	0.532000													41	75					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925048	70925048	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:70925048G>A	ENST00000603540.1	+	2	1090	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ADAM21_ENST00000267499.3_Missense_Mutation_p.D278N|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	278	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCCTGAACGATTTCTCTCA	0.353000													31	90					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706495	96706495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:96706495G>A	ENST00000389672.5	+	3	810	c.772G>A	c.(772-774)Gat>Aat	p.D258N	EPHA6_ENST00000470610.2_Missense_Mutation_p.D258N|EPHA6_ENST00000542517.1_Missense_Mutation_p.D164N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	163						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGATTTGGGTGATCGCATCCT	0.443000													74	202					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41047823	41047823	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41047823C>T	ENST00000399564.4	-	17	2178	c.1728_splice	c.e17+1	p.Q576_splice	MROH2B_ENST00000506092.2_Splice_Site_p.Q131_splice	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCAGCCTTACCTGAAGCAGCA	0.353000													6	9					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704206	113704206	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113704206G>A	ENST00000374431.3	-	4	671	c.288C>T	c.(286-288)ttC>ttT	p.F96F	LPAR1_ENST00000374430.2_Silent_p.F96F|LPAR1_ENST00000538760.1_Silent_p.F97F|LPAR1_ENST00000358883.4_Silent_p.F96F|LPAR1_ENST00000541779.1_Silent_p.F97F	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	96					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ACCCAGCAAAGAAGTCTGCAG	0.478000													29	101					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417721	116417721	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:116417721G>A	ENST00000277895.5	-	1	336	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	80					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTACCAAAAGGATCAACGCT	0.443000													31	87					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55972740	55972740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:55972740C>T	ENST00000389286.4	-	5	810	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	255	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCATGCATTCCAAAACTACA	0.393000													58	150					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129120680	129120680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:129120680C>T	ENST00000326639.6	+	16	2301	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L	LARP1B_ENST00000441387.1_Missense_Mutation_p.P697L|LARP1B_ENST00000264584.5_Missense_Mutation_p.P638L|LARP1B_ENST00000354456.3_Missense_Mutation_p.P116L|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	697							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTCCAGCATCCTTCTCATGAA	0.428000													25	45					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350622	21350622	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:21350622T>G	ENST00000380210.1	-	1	755	c.265A>C	c.(265-267)Aac>Cac	p.N89H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	89					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTGAAGAGGTTGAAGGTCTGC	0.488000													44	140					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936581	40936581	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:40936581G>A	ENST00000313164.9	+	5	781	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	141	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAACTTACTGGAAATGGGTAA	0.403000													6	15					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56421954	56421954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56421954G>A	ENST00000588751.1	-	6	2281	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P753S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	753							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTGCATCTTGGATTTTTCAGT	0.458000													30	76					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208702	23208702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:23208702G>A	ENST00000300061.2	+	6	1174	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	344					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAAGATGTGGGAACAGAGATT	0.443000													16	50					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6337259	6337259	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:6337259C>T	ENST00000381129.3	-	2	336	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AIPL1_ENST00000250087.5_Missense_Mutation_p.E86K|AIPL1_ENST00000570466.1_Missense_Mutation_p.E64K|AIPL1_ENST00000575265.1_Missense_Mutation_p.E86K|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.E86K|AIPL1_ENST00000571740.1_Missense_Mutation_p.E86K|AIPL1_ENST00000574506.1_Missense_Mutation_p.E74K	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	86	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACCAGAACTCGGCCACCTCG	0.602000													3	18					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575422	45575422	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:45575422G>A	ENST00000303809.2	-	3	1079	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	289					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCCATGAGGGGGCTCTGGGGC	0.697000													11	41					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58544043	58544043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:58544043C>T	ENST00000348616.4	+	2	391	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.Q31*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	31					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGACAGTGTTCAACAGGAAAC	0.323000													15	56					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:5811248G>A	ENST00000381095.3	-	6	2688	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	NLGN4X_ENST00000381093.2_Silent_p.F707F|NLGN4X_ENST00000381092.1_Silent_p.F687F|NLGN4X_ENST00000275857.6_Silent_p.F687F|NLGN4X_ENST00000538097.1_Silent_p.F687F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000													36	66					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274616	29274616	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29274616C>T	ENST00000377160.2	+	1	214	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTACCGTGGACCGTCGTCTCC	0.468000													41	121					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43886973	43886973	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:43886973C>T	ENST00000562955.1	+	11	1625	c.1626_splice	c.e11+1	p.P542_splice		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	542						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCACCACCCCGGTGAGTAGC	0.542000													16	32					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88396303	88396303	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:88396303G>A	ENST00000419482.2	+	6	973	c.888_splice	c.e6+1	p.K296_splice	SMYD1_ENST00000444564.2_Splice_Site_p.K283_splice|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACAACCCCAAGGTACACACAG	0.527000													8	22					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085740	95085740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:95085740G>A	ENST00000553947.1	+	6	1815	c.927G>A	c.(925-927)atG>atA	p.M309I	SERPINA3_ENST00000393080.4_Missense_Mutation_p.M284I|SERPINA3_ENST00000482740.1_Missense_Mutation_p.M66I|SERPINA3_ENST00000393078.3_Missense_Mutation_p.M284I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.M284I|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	284					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGACAAGATGGAGGAAGTGG	0.567000													4	35					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59784572	59784572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59784572C>T	ENST00000288228.5	+	4	584	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	133										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GGGAGATCTTCGAGGAAGAGT	0.458000													6	14					0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201588	38201588	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:38201588C>T	ENST00000340857.2	+	1	475	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	13					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					TGCGGCCAAGCCCAAGCGGGC	0.637000													16	55					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148929728	148929728	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:148929728A>G	ENST00000261798.5	-	2	572	c.140T>C	c.(139-141)cTa>cCa	p.L47P	CSNK1A1_ENST00000504676.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.L47P|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.L47P|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.L47P	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	47	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CTGAGATTCTAGCTTCACTGC	0.502000													28	80					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812864	14812864	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:14812864C>T	ENST00000380881.4	-	17	3657	c.2842G>A	c.(2842-2844)Gat>Aat	p.D948N	FREM1_ENST00000380880.3_Missense_Mutation_p.D947N|FREM1_ENST00000422223.2_Missense_Mutation_p.D947N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	947					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)		GAGAACTGATCCACTGTGACT	0.488000													55	150					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900635	51900635	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:51900635C>G	ENST00000268919.4	+	1	397	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	81					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGCTGAATCCAGCTCTGGA	0.567000													50	127					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592810	156592810	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156592810G>A	ENST00000302938.4	-	1	465	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	124						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATTTCAAGGGAAGCAGTCTC	0.522000													14	63					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793126	143793126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143793126C>T	ENST00000408949.2	+	1	986	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAACAGAGATCAATGTGAAGA	0.423000													56	140					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737423	28737423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:28737423C>T	ENST00000257197.3	-	3	523	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DSC1_ENST00000257198.5_Missense_Mutation_p.E88K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	88					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTTTTCCTTTCAGAAGACAAA	0.423000													18	46					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062950	76062950	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:76062950C>T	ENST00000416245.1	+	3	1264	c.171C>T	c.(169-171)atC>atT	p.I57I	ZP3_ENST00000336517.4_Silent_p.I182I|ZP3_ENST00000394857.3_Silent_p.I233I			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	233	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATCACACCATCGTGGACTTCC	0.552000													21	62					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410648	23410648	+	Splice_Site	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:23410648G>T	ENST00000379361.4	+	3	1873	c.1012_splice	c.e3-1	p.G338_splice		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	338	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCCTCTTAGGTCATGGATTA	0.408000													18	26					3.41278e-10	3.45385e-10	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184299166	184299166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184299166C>T	ENST00000330394.2	+	15	3310	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	953	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGTTTGCATCTTTTGACCTG	0.582000													19	34					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91730267	91730267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:91730267C>T	ENST00000359028.2	+	45	11231	c.11006C>T	c.(11005-11007)tCt>tTt	p.S3669F	AKAP9_ENST00000358100.2_Missense_Mutation_p.S3615F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S3665F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3669					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCCAGAAATCTTTGAAAAGG	0.393000			T	BRAF	papillary thyroid								25	61					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102129	66102129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:66102129G>A	ENST00000349533.6	+	20	3114	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	LEPR_ENST00000406510.3_Missense_Mutation_p.E44K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	977					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATGAGGACGAAAGCCAGAG	0.423000													21	74					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249665	177249665	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:177249665C>T	ENST00000361539.4	+	8	1665	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		451						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCAATCTTCCTGCCAGGGCC	0.612000													30	41					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798510	137798510	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:137798510A>T	ENST00000242375.3	+	8	972	c.930A>T	c.(928-930)gaA>gaT	p.E310D	AKR1D1_ENST00000411726.2_Missense_Mutation_p.E269D|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	310					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCTTTGTAGAATTGCTCATGT	0.383000													12	23					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65270385	65270385	+	Missense_Mutation	SNP	A	A	C	rs139699062	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:65270385A>C	ENST00000389722.3	-	3	467	c.414T>G	c.(412-414)atT>atG	p.I138M	SPTB_ENST00000542895.1_Missense_Mutation_p.I138M|SPTB_ENST00000556626.1_Missense_Mutation_p.I138M|SPTB_ENST00000389721.5_Missense_Mutation_p.I138M|SPTB_ENST00000389720.3_Missense_Mutation_p.I138M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	138	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCATCTACAATGTCGTGGG	0.597000													18	37					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039860	32039860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32039860G>A	ENST00000375244.3	-	13	5098	c.4897C>T	c.(4897-4899)Cct>Tct	p.P1633S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1633S			P22105	TENX_HUMAN	tenascin XB	1715	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCAGGTCAGGGATAGTGACC	0.592000													7	19					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42769569	42769569	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:42769569T>C	ENST00000330714.3	+	8	1284	c.1100T>C	c.(1099-1101)gTt>gCt	p.V367A	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	367					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGCCACGGTTCCCCGACTG	0.502000													15	36					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239680	134239680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:134239680C>T	ENST00000517423.1	+	3	437	c.376C>T	c.(376-378)Cca>Tca	p.P126S	WISP1_ENST00000377863.2_Silent_p.Y105Y|WISP1_ENST00000519433.1_Silent_p.Y32Y|WISP1_ENST00000220856.6_Silent_p.Y190Y|WISP1_ENST00000250160.6_Silent_p.Y277Y	NM_001204869.1	NP_001191798.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	0	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGCTGTGTACCAGCCAGAGG	0.537000													15	58					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207243705	207243705	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:207243705C>T	ENST00000367080.3	+	12	1297	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000545806.1_Silent_p.H358H|PFKFB2_ENST00000367079.2_Silent_p.H391H|PFKFB2_ENST00000541914.1_Silent_p.H205H|PFKFB2_ENST00000411990.2_Silent_p.H293H	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	391	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCATCTCCCACCAGGCTGTCA	0.612000													13	29					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387043	10387043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10387043G>A	ENST00000328655.3	+	2	221	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PRSS55_ENST00000522210.1_Missense_Mutation_p.G61R|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	61					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TATTTTCGAGGGAAGAACTCG	0.517000													60	137					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747357	158747357	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158747357G>A	ENST00000339258.1	-	1	68	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCCAGCCCCTGACATAGCCCA	0.483000													40	55					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146384	5146384	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:5146384A>T	ENST00000274181.7	+	3	455	c.317A>T	c.(316-318)cAc>cTc	p.H106L	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H106L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	106					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCCAGGCACGACTTCCAC	0.537000													34	72					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851480	43851480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43851480G>A	ENST00000372769.3	+	2	1297	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	403	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.383000													32	74					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840684	142840684	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:142840684C>T	ENST00000309575.3	+	2	2410	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	342					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTCACGGATCCGCTCGCGCC	0.692000													6	4					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29383308	29383308	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:29383308C>T	ENST00000320081.5	+	12	1764	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	CLIP4_ENST00000401605.1_Silent_p.F503F|CLIP4_ENST00000401617.2_Silent_p.F396F|CLIP4_ENST00000404424.1_Silent_p.F503F	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	503										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CCATTAGGTTCTTTGGGACAA	0.418000													34	82					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575911	43575911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43575911G>A	ENST00000406487.1	-	4	1003	c.905C>T	c.(904-906)tCt>tTt	p.S302F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	302	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTTACGAACAGAGCAAACATA	0.458000													103	267					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212435	113212435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113212435C>T	ENST00000401783.2	-	24	4343	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1313E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1336E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1336	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCCAAAAATCCAGGTGGGCA	0.458000													126	127					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18542003	18542003	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18542003C>T	ENST00000345096.4	-	6	909	c.210G>A	c.(208-210)aaG>aaA	p.K70K	TBC1D28_ENST00000405044.1_Silent_p.K70K			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	70						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GTTTACTTTCCTTGCGTCTTT	0.537000													20	54					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666372	34666372	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34666372G>A	ENST00000488417.1	+	3	1129		c.e3-1		C1orf94_ENST00000373374.3_Splice_Site	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94								protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCCTGCTACAGAATGGAGCCC	0.542000													28	60					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679901	3679901	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3679901C>T	ENST00000344754.4	-	7	1733	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	SIGLEC1_ENST00000202578.4_Silent_p.R578R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	578	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGTGGCCGTCCCGGGCCCGGC	0.687000													4	5					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138313099	138313099	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:138313099G>A	ENST00000421622.1	-	7	721	c.513C>T	c.(511-513)atC>atT	p.I171I	SVOPL_ENST00000419765.3_Silent_p.I291I|SVOPL_ENST00000288513.5_Silent_p.I139I|SVOPL_ENST00000436657.1_Silent_p.I139I			Q8N434	SVOPL_HUMAN	SVOP-like	291						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGGCAAAAGAGATTCCAAGCC	0.542000													11	25					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001257	58001257	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:58001257G>A	ENST00000548198.1	+	3	2115	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DTX3_ENST00000551632.1_Missense_Mutation_p.R207H|DTX3_ENST00000337737.3_Missense_Mutation_p.R204H|DTX3_ENST00000548804.1_Missense_Mutation_p.R204H			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	204					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ATGTGCGGCCGCTTCTATGGG	0.602000													14	35					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649482	20649482	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:20649482G>A	ENST00000428453.1	-	0	2716																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCACCCACCAGAGTCGTCCTC	0.562000													33	59					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52371081	52371081	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:52371081T>A	ENST00000296585.5	+	23	2915	c.2772T>A	c.(2770-2772)aaT>aaA	p.N924K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	924					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGGCTGATAATTTGGTCAACC	0.368000													18	38					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178532	214178532	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:214178532C>A	ENST00000366958.4	+	3	2358	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PROX1_ENST00000498508.2_Missense_Mutation_p.H584N|PROX1_ENST00000261454.4_Missense_Mutation_p.H584N|PROX1_ENST00000435016.1_Missense_Mutation_p.H584N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	584			H -> R (in dbSNP:rs12121210).		aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTCACCCAATCACTTGAAAAA	0.443000													12	80					7.93312e-07	8.00829e-07	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902850	247902850	+	Missense_Mutation	SNP	A	A	T	rs75700347		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247902850A>T	ENST00000283225.2	+	1	934	c.934A>T	c.(934-936)Atg>Ttg	p.M312L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						cagtggggtaatgaaaagatg	0.383000													12	23					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642116	196642116	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196642116G>A	ENST00000367429.4	+	2	307	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	CFH_ENST00000359637.2_Missense_Mutation_p.E23K|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.E23K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	23	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGATTGCAATGAACTTCCTCC	0.353000													15	43					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374794	48374794	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:48374794G>A	ENST00000222002.3	-	6	915	c.776C>T	c.(775-777)aCa>aTa	p.T259I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	259					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTGGGCCACTGTGAAGTGATT	0.483000													25	66					0	0	1	0	0
AMT	275	broad.mit.edu	37	3	49459563	49459563	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:49459563G>A	ENST00000273588.3	-	2	534	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	AMT_ENST00000395338.2_Missense_Mutation_p.L78F|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Intron|AMT_ENST00000538581.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.L78F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	78					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACGTCAAAGAGCGAGCAGTGC	0.592000													31	66					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	377135	377135	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:377135C>T	ENST00000432829.2	+	20	2476	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L	DOCK8_ENST00000453981.1_Silent_p.L788L|DOCK8_ENST00000469391.1_Silent_p.L720L|DOCK8_ENST00000382331.1_Silent_p.L90L|DOCK8_ENST00000382329.1_Silent_p.L255L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	788					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGGAGCCGCTCGTGCTCTTCC	0.612000													6	15					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462592	105462592	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:105462592G>A	ENST00000258494.9	-	4	639	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P167S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	167	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AGAAGGATGGGTCCTGTATCC	0.393000													21	50					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10227434	10227434	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10227434G>A	ENST00000418404.3	-	22	3002	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	MYH13_ENST00000570743.1_Silent_p.L947L|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L947L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	947					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTATCTTCCAGATTCCTCTTC	0.453000													14	39					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384678	58384678	+	Silent	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:58384678C>A	ENST00000316059.6	+	11	1383	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	ZFP91-CNTF_ENST00000389919.4_Silent_p.I404I	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	404					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATGTGAGATCTGTGGATTTA	0.388000													17	19					0.00074312	0.00074639	1	1	0
TTN	7273	broad.mit.edu	37	2	179604270	179604270	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179604270C>T	ENST00000589042.1	-	48	13914	c.13690G>A	c.(13690-13692)Gaa>Aaa	p.E4564K	TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4247	Ig-like 25.						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)			TCTTGTTTTTCGTCAGAGACA	0.428000													19	51					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412914	11412914	+	Silent	SNP	G	G	A	rs111642844		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:11412914G>A	ENST00000259089.4	+	8	1285	c.693G>A	c.(691-693)caG>caA	p.Q231Q	BLK_ENST00000529894.1_Silent_p.Q160Q	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	231					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q231H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTGGGCCCAGGATGAATGGG	0.612000													17	58					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411898	105411898	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:105411898G>T	ENST00000333244.5	-	7	10009	c.9890C>A	c.(9889-9891)gCc>gAc	p.A3297D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3297						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCGGCCAGGGACAG	0.622000													61	166					2.01871e-26	2.05996e-26	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109055861	109055861	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109055861T>G	ENST00000261401.3	-	4	564	c.392A>C	c.(391-393)aAg>aCg	p.K131T	CORO1C_ENST00000421578.2_Missense_Mutation_p.K26T|CORO1C_ENST00000549772.1_Missense_Mutation_p.K137T|CORO1C_ENST00000420959.2_Missense_Mutation_p.K184T|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.K131T	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	131					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCCGACTCTCTTTGAGTGGCC	0.537000													5	24					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178765	38178765	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:38178765C>T	ENST00000407257.1	+	2	554	c.407C>T	c.(406-408)tCc>tTc	p.S136F	RMDN2_ENST00000402091.3_Missense_Mutation_p.S136F|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.S136F|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		AGTATAGTTTCCTATTACAAG	0.358000													25	71					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20507995	20507995	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:20507995G>A	ENST00000377252.3	+	12	2117	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D377N|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	426	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTTCCAGATGATACCAAGAT	0.299000													13	16					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	21					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480109	10480109	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10480109C>T	ENST00000382483.3	-	2	826	c.603G>A	c.(601-603)ggG>ggA	p.G201G	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	201					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTACCTTTTTCCCGCTGGTCG	0.478000													47	155					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433863	49433863	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49433863T>G	ENST00000301067.7	-	31	7689	c.7690A>C	c.(7690-7692)Agc>Cgc	p.S2564R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAAAATGGCTGTTGATCCCA	0.632000													12	20					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232392916	232392916	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:232392916C>T	ENST00000305141.4	-	2	949	c.816G>A	c.(814-816)agG>agA	p.R272R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGCAGAGCCCCTGCCCTTGG	0.632000													8	26					0	0	1	0	0
KCMF1	56888	broad.mit.edu	37	2	85276756	85276756	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:85276756A>G	ENST00000409785.3	+	6	1228	c.869A>G	c.(868-870)cAg>cGg	p.Q290R		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	290						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CAGAATTCCCAGTTTCTTTTA	0.368000													6	19					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57481055	57481055	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:57481055G>A	ENST00000371236.2	-	12	1208	c.945C>T	c.(943-945)ccC>ccT	p.P315P	DAB1_ENST00000439789.2_Silent_p.P229P|DAB1_ENST00000420954.2_Silent_p.P313P|DAB1_ENST00000371231.1_Silent_p.P348P|DAB1_ENST00000371234.4_Silent_p.P315P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.P297P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	348					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTTGGACGAGGGGCTGCTGAC	0.617000													15	40					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109047785	109047785	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:109047785G>A	ENST00000335658.6	-	6	884	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	277						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGCGGGGGTGGAAAATTGGA	0.473000													11	26					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231109	21231109	+	Silent	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21231109T>A	ENST00000233242.1	-	26	8758	c.8631A>T	c.(8629-8631)atA>atT	p.I2877I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2877					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGATTGTTTATCTTGACAA	0.398000													71	170					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343025	79343025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:79343025G>A	ENST00000264895.6	+	34	4989	c.4549G>A	c.(4549-4551)Gag>Aag	p.E1517K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E1517K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1516					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGTATCATCGAGCACCGGGA	0.532000													59	150					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176407	142176407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142176407G>A	ENST00000519811.1	+	12	1742	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	DENND3_ENST00000424248.1_Missense_Mutation_p.D426N|DENND3_ENST00000262585.2_Missense_Mutation_p.D478N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	478										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACCTGCAGGACATTGCCAT	0.642000													32	92					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100503174	100503174	+	Silent	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100503174C>G	ENST00000457717.1	+	3	430	c.174C>G	c.(172-174)cgC>cgG	p.R58R	MTTP_ENST00000511045.1_Silent_p.R85R|MTTP_ENST00000422897.2_Silent_p.R58R|MTTP_ENST00000265517.5_Silent_p.R58R	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	58	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGGGCTACCGCATTTCCTCCA	0.468000													40	87					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70189094	70189094	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70189094G>A	ENST00000550536.1	+	6	1363	c.906G>A	c.(904-906)gtG>gtA	p.V302V	RAB3IP_ENST00000362025.5_Silent_p.V302V|RAB3IP_ENST00000325555.9_Silent_p.V80V|RAB3IP_ENST00000551641.1_Silent_p.V80V|RAB3IP_ENST00000553099.1_Silent_p.V80V|RAB3IP_ENST00000247833.7_Silent_p.V286V|RAB3IP_ENST00000378815.6_Silent_p.V286V|RAB3IP_ENST00000483530.2_Silent_p.V286V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	302					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTCAGTGTGATACAGCCAA	0.443000													10	29					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322600	5322600	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5322600G>A	ENST00000380224.1	-	1	626	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATATATGTGATTAAACGTG	0.393000													21	30					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523684	55523684	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:55523684G>A	ENST00000219070.4	+	7	1637	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	MMP2_ENST00000570308.1_Silent_p.A300A|MMP2_ENST00000437642.2_Silent_p.A326A|MMP2_ENST00000543485.1_Silent_p.A300A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	376	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A376A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTGGTGTGCGACCACAGCCA	0.587000													13	59					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067953	5067953	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5067953C>T	ENST00000380370.1	+	1	198	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCCTGGCCATTCTTTCCA	0.488000													18	28					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46603350	46603350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:46603350C>T	ENST00000539173.1	+	7	1756	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	ADARB1_ENST00000389863.4_Nonsense_Mutation_p.Q441*|ADARB1_ENST00000348831.4_Nonsense_Mutation_p.Q441*|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Nonsense_Mutation_p.Q441*	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	441	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGAGAATGTCCAGTTTCATCT	0.428000													16	33					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184633212	184633212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184633212C>T	ENST00000437079.3	+	28	2503	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	VPS8_ENST00000446204.2_Missense_Mutation_p.R686W|VPS8_ENST00000436792.2_Missense_Mutation_p.R776W|VPS8_ENST00000287546.4_Missense_Mutation_p.R778W	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	778							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCTTACATTCGGACTTTGCT	0.348000													17	27					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2856249	2856249	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:2856249G>A	ENST00000545496.1	-	10	1542	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	ARSE_ENST00000381134.3_Silent_p.I392I|ARSE_ENST00000540563.1_Silent_p.I347I			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	392					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCAGCGGAAGATCCCGGGCA	0.627000													25	26					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705685	101705685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:101705685C>T	ENST00000305352.6	+	2	1520	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	382					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AACTCTTCTTCCTAGAACTGG	0.532000													15	22					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140530763G>A	ENST00000231136.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E173K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTTGAGGAAATTCAGTC	0.463000													24	50					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115727	170115727	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170115727C>T	ENST00000263816.3	-	17	2606	c.2320_splice	c.e17-1	p.G774_splice	LRP2_ENST00000443831.1_Splice_Site_p.G637_splice	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	774					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTTCTCTTCCTATAAGTTA	0.333000													19	47					0	0	1	0	0
TRAV35	28647	broad.mit.edu	37	14	22690278	22690278	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22690278G>A	ENST00000390462.1	+	0	237																											ATGGAAGACTGACTGCTCAGT	0.463000													38	73					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558854	129558854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:129558854C>T	ENST00000422113.2	-	9	3192	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E494K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	956						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCATCCCTTCCTGCTCCTCG	0.458000													47	98					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18041552	18041552	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18041552T>G	ENST00000205890.5	+	17	5337	c.4999T>G	c.(4999-5001)Ttt>Gtt	p.F1667V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1667	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ccagtgttgctttccccaggt	0.552000													12	31					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3410459	3410459	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:3410459A>C	ENST00000356575.4	-	34	4489	c.4263T>G	c.(4261-4263)tgT>tgG	p.C1421W	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1421						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AACCTGGCTCACACCCTGGTG	0.682000													2	1					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131444	45131444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:45131444C>T	ENST00000457685.2	-	6	1743	c.420G>A	c.(418-420)atG>atA	p.M140I	ZNF334_ENST00000347606.4_Missense_Mutation_p.M178I|ZNF334_ENST00000593880.1_Missense_Mutation_p.M201I			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATTTTTTCATTCCCAAAT	0.343000													27	45					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52842644	52842644	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52842644G>A	ENST00000252252.3	-	6	1232	c.1185C>T	c.(1183-1185)atC>atT	p.I395I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	395	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGACGTGGTCGATCTCAGATC	0.488000													23	60					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824278	94824278	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:94824278C>T	ENST00000285949.5	+	4	846	c.846C>T	c.(844-846)tcC>tcT	p.S282S		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	282					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				ATGAGCCCTCCATGCAGGAGC	0.587000													20	45					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741424	196741424	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:196741424C>T	ENST00000312428.6	-	37	6062		c.e37-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						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						AAAGAAAATTCTATATAACAA	0.289000													7	15					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113323281	113323281	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:113323281C>T	ENST00000297405.5	-	50	8055	c.7811G>A	c.(7810-7812)gGa>gAa	p.G2604E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2534E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2564E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2500E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2604	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGCTTTTTCCAACAAGTCG	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	52					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660867	90660867	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90660867G>A	ENST00000257749.4	-	7	1665	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	BACH2_ENST00000343122.3_Missense_Mutation_p.P320S|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.P320S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	320						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGCCGTGGGGGTAGGGGCA	0.632000													10	24					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69112244	69112244	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:69112244G>A	ENST00000361055.4	-	9	636	c.582C>T	c.(580-582)tcC>tcT	p.S194S	UBA3_ENST00000349511.4_Silent_p.S180S|UBA3_ENST00000415609.2_Silent_p.S153S|UBA3_ENST00000540295.1_Silent_p.S17S	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	194	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGGGACAATGGAGCTTGGAT	0.413000													25	74					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954455	119954455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:119954455G>A	ENST00000327554.2	+	8	1376	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	304								p.R304Q(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGATGGTTCGGGAAGATGCC	0.493000													7	39					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380506	78380506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:78380506C>T	ENST00000278550.7	-	32	7346	c.6884G>A	c.(6883-6885)gGc>gAc	p.G2295D		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCGCCCCAGGCCATCGTAGCG	0.607000													21	32					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723760	142723760	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142723760A>C	ENST00000350513.2	-	1	522	c.460T>G	c.(460-462)Tgg>Ggg	p.W154G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TAGATGGGCCAGATTTCAGAA	0.418000													36	92					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873396	151873396	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:151873396G>A	ENST00000355193.2	-	38	9360	c.9142C>T	c.(9142-9144)Cta>Tta	p.L3048L	KMT2C_ENST00000262189.6_Silent_p.L3048L					lysine (K)-specific methyltransferase 2C																		TGTTCTTCTAGAAGAAGGGGC	0.468000													47	95					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985064	33985064	+	Splice_Site	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:33985064C>A	ENST00000373381.4	-	70	11126		c.e70+1			NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCCTGCTCACCGGCTGCTGG	0.657000													7	22					6.5536e-12	6.64508e-12	1	1	0
PKN1	5585	broad.mit.edu	37	19	14562718	14562718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:14562718G>A	ENST00000242783.6	+	7	1213	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	PKN1_ENST00000342216.4_Missense_Mutation_p.G356R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	350	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTCAATGGGGGGACCTGGGAC	0.677000													4	23					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513255	1513255	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:1513255G>A	ENST00000389470.4	-	43	6515	c.6516C>T	c.(6514-6516)acC>acT	p.T2172T	INTS1_ENST00000404767.3_Silent_p.T1968T			Q8N201	INT1_HUMAN	integrator complex subunit 1	1968					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGCATTGTAGGTAATGTACT	0.582000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430903	37430903	+	Missense_Mutation	SNP	G	G	A	rs77379875		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:37430903G>A	ENST00000374660.1	+	7	1009	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E304K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E304K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACACCTAGGGAAATTACGAG	0.443000													22	66					0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191523919	191523919	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:191523919C>T	ENST00000337386.5	+	4	478	c.17C>T	c.(16-18)cCc>cTc	p.P6L	NAB1_ENST00000409641.1_Missense_Mutation_p.P6L|NAB1_ENST00000409581.1_Missense_Mutation_p.P6L|NAB1_ENST00000357215.5_Missense_Mutation_p.P6L	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	6	NCD1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCGGCCTTACCCAGGACCCTG	0.398000													14	43					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169354194	169354194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:169354194C>T	ENST00000511577.1	-	11	1614	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	DDX60L_ENST00000260184.7_Missense_Mutation_p.G456E|DDX60L_ENST00000505890.1_Missense_Mutation_p.G456E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	456							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCATATCTCCAACAAACTC	0.348000													5	9					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48387023	48387023	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:48387023C>T	ENST00000222002.3	-	2	295	c.156G>A	c.(154-156)gaG>gaA	p.E52E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	52					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.E52D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GGCAGAGAATCTCAGCCAACC	0.488000													18	36					0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272736	81272736	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:81272736G>A	ENST00000520547.2	+	1	380	c.331G>A	c.(331-333)Gac>Aac	p.D111N		NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	111					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGTACCAGAGGACCTTCGTCT	0.527000													17	46					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26080014	26080014	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26080014C>T	ENST00000374332.4	+	5	1204	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Silent_p.L63L|MAN1C1_ENST00000263979.3_Silent_p.L112L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	292					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGAGAAGCTCCTGCCGGCGTT	0.587000													10	32					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522284	144522284	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:144522284G>A	ENST00000262577.5	-	11	2773	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	914					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGACTGCAGGGAGATGAAGG	0.687000													4	7					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3920780	3920780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3920780G>A	ENST00000450849.2	+	12	1557	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ATCAY_ENST00000398448.3_Missense_Mutation_p.E370K|ATCAY_ENST00000301260.6_Missense_Mutation_p.E364K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E364K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	364					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGGTCTCAGAAGATCAGGA	0.448000													4	17					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224711	158224711	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:158224711C>T	ENST00000296526.7	+	3	562	c.237C>T	c.(235-237)tcC>tcT	p.S79S	GRIA2_ENST00000393815.2_Silent_p.S32S|GRIA2_ENST00000507898.1_Silent_p.S32S|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Silent_p.S32S|GRIA2_ENST00000264426.9_Silent_p.S79S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	79					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGTCTGCTCCCAGTTTTCGA	0.343000													21	62					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170053486	170053486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170053486G>A	ENST00000263816.3	-	46	8918	c.8633C>T	c.(8632-8634)cCt>cTt	p.P2878L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2878	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATGTTGAGGAATACAGCG	0.453000													22	56					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540487	55540487	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55540487G>A	ENST00000220676.1	+	4	4193	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1349					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACTCCAAAGAAAACACATA	0.363000													30	80					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46872027	46872027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:46872027C>T	ENST00000243167.8	+	7	1022	c.938C>T	c.(937-939)cCc>cTc	p.P313L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	313					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCTCCCTTGCCCTTCAGAGAA	0.662000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669690	122669690	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:122669690C>T	ENST00000284273.5	+	10	1773	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	466	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCGATCATGTCTATTGCTCCC	0.433000													16	25					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645933	62645933	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:62645933G>A	ENST00000337910.5	-	7	1849	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	RHOBTB1_ENST00000357917.4_Silent_p.I504I	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	504	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CACAGCTACAGATCAGCAGCG	0.502000													31	82					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450137	9450137	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:9450137C>T	ENST00000379719.3	+	13	1528	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	462					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATCATGTATTCCCTCTCTTCA	0.323000													10	21					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97078808	97078808	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:97078808G>A	ENST00000524981.3	+	9	1159	c.1157_splice	c.e9-1	p.A387_splice				Q6ZTY8	CL063_HUMAN		361			G -> S (in dbSNP:rs11108639).							breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGTTTTAGGGCTGCTTTTAA	0.418000													5	18					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41004894	41004894	+	Silent	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41004894T>G	ENST00000399564.4	-	36	4443	c.3993A>C	c.(3991-3993)gcA>gcC	p.A1331A	MROH2B_ENST00000506092.2_Silent_p.A886A	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GAGCCCCGGATGCTGTGTTGC	0.478000													15	43					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788299	68788299	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:68788299C>T	ENST00000295569.7	-	5	830	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	113						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACAATCCTCTCCTTCCAAACA	0.408000													48	143					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203622061	203622061	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:203622061C>T	ENST00000303116.6	+	6	1240	c.498C>T	c.(496-498)tcC>tcT	p.S166S	FAM117B_ENST00000392238.2_Silent_p.S410S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	410										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCAGCCGTTCCCAGTCCGTGT	0.567000													27	48					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11071014	11071014	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11071014G>A	ENST00000287766.4	+	12	1720	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	SLC6A1_ENST00000536032.1_Silent_p.L255L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	433					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCTCCTACCTGATCGGTCTCT	0.597000													10	22					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455232	90455232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90455232C>T	ENST00000369393.3	-	28	4133	c.4018G>A	c.(4018-4020)Gaa>Aaa	p.E1340K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1340K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1340					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAACATTTTCTTTGGAGAAA	0.358000													27	81					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010929	108010929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:108010929G>A	ENST00000280758.5	+	8	2593	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E226K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E689K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E689K|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	689						integral to membrane	DNA binding	p.E689K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAACTACTCGGAAACACCCCT	0.612000													21	85					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94352981	94352981	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:94352981G>A	ENST00000299001.6	+	18	2435	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	PIWIL4_ENST00000537419.1_Missense_Mutation_p.E93K|RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	742	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.E742K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTCTTTACCGAAATGAACCG	0.433000													14	28					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973313	29973313	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:29973313C>T	ENST00000378993.1	+	11	2140	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	IL1RAPL1_ENST00000302196.4_Silent_p.I489I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	489	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTGGAGCATCTTTGAGCTGG	0.408000													35	86					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823298	54823298	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54823298C>T	ENST00000301219.3	-	4	364	c.245G>A	c.(244-246)gGa>gAa	p.G82E	LILRA5_ENST00000346508.3_Missense_Mutation_p.G70E|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.G70E|LILRA5_ENST00000432233.3_Missense_Mutation_p.G82E	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	82	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGGGCTTCCCTCTTTAAC	0.597000													61	159					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538314	31538314	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:31538314C>T	ENST00000286808.3	-	1	657	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	208					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTTCGCTTATCTGTGTGTGGC	0.453000													15	63					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62594545	62594545	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:62594545A>G	ENST00000371158.2	+	41	5313	c.5199A>G	c.(5197-5199)caA>caG	p.Q1733Q		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1733	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTAACGGGCAACCTTTGGATG	0.443000													23	97					0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33686945	33686945	+	Missense_Mutation	SNP	G	G	A	rs150110918		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:33686945G>A	ENST00000399786.3	+	5	477	c.290G>A	c.(289-291)aGa>aAa	p.R97K	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Missense_Mutation_p.R97K	NM_206898.1	NP_996781.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	0					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CAAGCCCCTAGAGAGGAAGGG	0.527000													13	41					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310103	124310103	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:124310103C>T	ENST00000328064.2	-	1	951	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CGTCCTTATTCCTCAGGCTAT	0.408000													28	29					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758933	121758933	+	Silent	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:121758933T>G	ENST00000261367.7	+	6	2070	c.642T>G	c.(640-642)tcT>tcG	p.S214S	SNCAIP_ENST00000261368.8_Silent_p.S167S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.S214S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Silent_p.S214S|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Silent_p.S167S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	167					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCTTGCCTCTTTTACCAAGG	0.473000													16	118					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306219	239306219	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:239306219C>T	ENST00000373327.4	+	16	2031	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	TRAF3IP1_ENST00000391994.2_Silent_p.I603I|TRAF3IP1_ENST00000391993.3_Silent_p.I537I	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	603	DISC1-interaction domain.					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)		TGGGGAAGATCATGGACTACA	0.577000													24	48					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829200	101829200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:101829200G>A	ENST00000375001.3	+	40	4111	c.3688G>A	c.(3688-3690)Gac>Aac	p.D1230N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1230	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATTTTCTGGGGACATTCGAGC	0.483000													27	77					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963061	73963061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73963061G>A	ENST00000373468.1	-	3	1982	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S444F			Q5QGS0	K2022_HUMAN	KIAA2022	444					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCAATGAAGGAACTATCATC	0.468000													36	63					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921392	247921392	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247921392G>A	ENST00000408896.2	-	1	590	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATTCACAAAAGAAACGAAGAA	0.473000													39	32					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4741624	4741624	+	Splice_Site	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:4741624A>C	ENST00000302640.8	+	34	4840	c.4491_splice	c.e34+1	p.Q1497_splice	ITPR1_ENST00000423119.2_Splice_Site_p.Q1503_splice|ITPR1_ENST00000456211.2_Splice_Site_p.Q1488_splice|ITPR1_ENST00000354582.6_Splice_Site_p.Q1512_splice|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Splice_Site_p.Q1503_splice|ITPR1_ENST00000443694.2_Splice_Site_p.Q1497_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1512					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACGACTTTGCAGGTAAGAAAT	0.423000													16	52					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839350G>A	ENST00000536311.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000													3	22					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166960300	166960300	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:166960300C>T	ENST00000392766.2	-	20	2609	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	ZBBX_ENST00000392764.1_Missense_Mutation_p.E728K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E796K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E796K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E757K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	757						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TACCTCAATTCCTCAACTCCA	0.353000													12	65					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187235	12187235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:12187235C>T	ENST00000439326.3	+	4	1475	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCTTCCACTTCCTTTCGATAT	0.428000													31	78					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852061	176852061	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176852061A>C	ENST00000367654.2	-	20	3333	c.3320T>G	c.(3319-3321)gTg>gGg	p.V1107G	ASTN1_ENST00000424564.2_Missense_Mutation_p.V1099G|ASTN1_ENST00000367657.3_Missense_Mutation_p.V1099G|ASTN1_ENST00000361833.2_Missense_Mutation_p.V1099G			O14525	ASTN1_HUMAN	astrotactin 1	1107	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGTCCGGCACCTGAGATGG	0.488000													18	90					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	C	T	rs1058692		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43376039C>T	ENST00000244296.2	-	3	726	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG1_ENST00000436291.2_Missense_Mutation_p.E197K|PSG1_ENST00000312439.6_Missense_Mutation_p.E197K|PSG1_ENST00000595356.1_Missense_Mutation_p.E197K|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTTC	0.527000													129	330					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968531	87968531	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:87968531C>T	ENST00000307808.6	+	3	1243	c.823C>T	c.(823-825)Cca>Tca	p.P275S	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P282S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	275						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCAGACATTTCCACCTCCCTC	0.562000													51	125					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508081	149508081	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:149508081C>T	ENST00000378016.2	+	0	9475							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGTGGTTCGTCCATGTGA	0.602000													8	22					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114674	113114674	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:113114674C>T	ENST00000393845.2	-	15	1879	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.E605K	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	605										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TAATCCCTTTCCACTTCAAAG	0.343000													16	50					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652567	101652567	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:101652567A>T	ENST00000409318.1	-	9	1646	c.1516T>A	c.(1516-1518)Tgt>Agt	p.C506S	TBC1D8_ENST00000376840.4_Missense_Mutation_p.C491S	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	491	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGAAACATACACACGGTTCTG	0.458000													37	104					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122231	73122231	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:73122231C>T	ENST00000373189.5	+	6	1346	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	432					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCAGCACCCTGGCCCTCCT	0.622000													12	68					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12229589	12229589	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:12229589C>T	ENST00000256194.4	+	5	780	c.492C>T	c.(490-492)ctC>ctT	p.L164L	MICAL2_ENST00000342902.5_Silent_p.L164L|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Silent_p.L164L|MICAL2_ENST00000537344.1_Silent_p.L164L|MICAL2_ENST00000527546.1_Silent_p.L164L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	164						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AACTACAGCTCATCCTATTCA	0.463000													42	72					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21846536	21846536	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:21846536G>A	ENST00000434536.1	+	16	1939	c.1837G>A	c.(1837-1839)Ggc>Agc	p.G613S	XPO7_ENST00000433566.4_Missense_Mutation_p.G605S|XPO7_ENST00000252512.9_Missense_Mutation_p.G604S			Q9UIA9	XPO7_HUMAN	exportin 7	604					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAAGTACTGGGGCCGTTGTGA	0.443000													5	27					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433742	43433742	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43433742G>A	ENST00000446844.3	-	0	650				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGTCATAGGGAGGCTCTGAC	0.498000													111	345					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165709	172165709	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:172165709G>A	ENST00000241256.2	-	1	537	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GHSR_ENST00000427970.1_Silent_p.F165F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	165					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCCAGATGACGAAGATGACCA	0.647000													12	27					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352143	15352143	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:15352143C>T	ENST00000344693.5	-	0	615					NR_027270.1																						GTACCGGATTCGGTACCCGGA	0.622000													5	19					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628001	33628001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:33628001G>A	ENST00000380099.3	+	2	925	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_5'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	306	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATCAATCCTCGAAGAATGACC	0.468000													56	75					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673478	75673478	+	Silent	SNP	C	C	T	rs1050120		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:75673478C>T	ENST00000446342.1	+	6	1073	c.591C>T	c.(589-591)atC>atT	p.I197I	PLAU_ENST00000372764.3_Silent_p.I214I|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.I178I	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	214	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCAGCCTCATCAGCCCTTGCT	0.607000													37	73					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94770710	94770710	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:94770710G>A	ENST00000453321.3	+	3	370		c.e3-1		TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67						cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTAATTTAGAAAGGTGTTA	0.333000													23	49					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362132	25362132	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:25362132G>A	ENST00000255324.5	+	7	670	c.618G>A	c.(616-618)aaG>aaA	p.K206K	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.K207K|RNF17_ENST00000381921.1_Silent_p.K206K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	206					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.K206N(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAGGAAAAAGAACCTGTGTG	0.269000													14	37					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390795	52390795	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:52390795C>T	ENST00000443374.1	+	0	1488																											GGTAAAAATTCCTTTATCTGC	0.488000													4	23					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691530	26691530	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26691530G>A	ENST00000436292.1	-	4	627	c.507C>T	c.(505-507)ccC>ccT	p.P169P	ZNF683_ENST00000403843.1_Silent_p.P169P|ZNF683_ENST00000374204.1_Silent_p.P169P|ZNF683_ENST00000349618.3_Silent_p.P169P			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAAAGCCAAGGGGCTGGGGC	0.607000													3	12					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458380	45458380	+	RNA	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:45458380T>C	ENST00000548424.1	+	0	448																											TGTTCCAAGGTTGTAAAGTAC	0.537000													9	22					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089854	12089854	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12089854T>C	ENST00000235332.4	+	7	917	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.F250L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	250	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGGCGCCTGTTCCCGGTGCC	0.692000													3	9					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167680	140167680	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140167680G>A	ENST00000504120.2	+	1	1805	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G602D|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGACTCGGGCTACAACGCG	0.667000													21	75					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15640648	15640648	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15640648C>T	ENST00000269703.2	+	4	550	c.351C>T	c.(349-351)ccC>ccT	p.P117P	CYP4F22_ENST00000601005.2_Silent_p.P117P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	117						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ACATCAAACCCCTTTTGGGAG	0.527000													16	67					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29272068	29272068	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29272068G>A	ENST00000330889.3	+	6	989	c.654G>A	c.(652-654)ggG>ggA	p.G218G	ADAP2_ENST00000580525.1_Silent_p.G224G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	218	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAAAGTGGGAAGGTGAGAT	0.592000													15	22					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170346514	170346514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:170346514C>T	ENST00000523189.1	+	11	1335	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	391					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCATCTGTTCCTTTTGTGAA	0.388000			T	TRD@	ALL								20	100					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651265	121651265	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:121651265A>G	ENST00000393386.2	+	12	2576	c.2165A>G	c.(2164-2166)gAg>gGg	p.E722G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E722G|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	722					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCCCAACTGAGGTAACACCT	0.488000													32	105					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112647993	112647993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:112647993G>A	ENST00000550722.1	-	50	7650	c.7255C>T	c.(7255-7257)Cgc>Tgc	p.R2419C	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2143C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2393C	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGCATTGCGGTGGGCCTGC	0.542000													38	99					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886266	29886266	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:29886266A>G	ENST00000310624.6	+	4	2670	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	885	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGAAGGAACCTGCTGTCG	0.517000													4	12					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253704	134253704	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:134253704G>C	ENST00000524765.1	-	3	5035	c.491C>G	c.(490-492)cCg>cGg	p.P164R	B3GAT1_ENST00000537389.1_Missense_Mutation_p.P177R|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P164R|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P164R			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	164					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGTGCCCCGCGGGATGCGTGG	0.711000													3	6					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178326706	178326706	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:178326706C>T	ENST00000264167.4	+	9	1102	c.956C>T	c.(955-957)tCa>tTa	p.S319L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	319	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACTCGCGCATCAGGCATGAAG	0.328000													13	61					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170346515	170346515	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:170346515C>T	ENST00000523189.1	+	11	1336	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	391					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCATCTGTTCCTTTTGTGAAA	0.393000			T	TRD@	ALL								21	103					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162441	48162441	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:48162441C>A	ENST00000311303.3	-	9	1789	c.1444G>T	c.(1444-1446)Gcc>Tcc	p.A482S	ABCC12_ENST00000448542.1_Missense_Mutation_p.A482S|ABCC12_ENST00000416054.1_Missense_Mutation_p.A482S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	482	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGCCAGTGGCTCCCTTGGCT	0.512000													30	67					1.80694e-10	1.82985e-10	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33329624	33329624	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:33329624A>T	ENST00000374796.2	-	12	7006	c.4436T>A	c.(4435-4437)tTg>tAg	p.L1479*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.L1479*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1479					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGAGACACCAAATTTTTGTT	0.458000													30	83					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31695997	31695997	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:31695997G>A	ENST00000375792.3	-	5	1174	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	DDAH2_ENST00000375787.2_Missense_Mutation_p.R182C|DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375789.2_Missense_Mutation_p.R182C			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	182					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ACAACAGTGCGAGGTCCCCCC	0.682000													6	21					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167937622	167937622	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:167937622C>T	ENST00000231572.3	+	12	1437	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R	RARS_ENST00000538719.1_Silent_p.R255R	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	461					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AAACAGTGCGCCTCATGGATC	0.363000													8	20					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114773045	114773045	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:114773045G>T	ENST00000334062.7	-	18	1827	c.1706C>A	c.(1705-1707)cCc>cAc	p.P569H	RASA3_ENST00000389544.4_Missense_Mutation_p.P537H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	569					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AACACTCTTGGGGTCTCTTCT	0.557000													4	21					1	1	1	1	0
CCDC144A	9720	broad.mit.edu	37	17	16612232	16612232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16612232G>A	ENST00000443444.2	+	5	1001	c.861G>A	c.(859-861)tgG>tgA	p.W287*	CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.W287*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.W287*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.W287*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.W286*|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	287								p.W287*(1)									AATTAGAGTGGAAAAACCAAT	0.373000													19	35					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24228681	24228681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:24228681C>T	ENST00000379177.1	+	11	2033	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	ZFX_ENST00000379188.3_Missense_Mutation_p.R536C|ZFX_ENST00000304543.5_Missense_Mutation_p.R536C|ZFX_ENST00000540034.1_Missense_Mutation_p.R575C|ZFX_ENST00000539115.1_Missense_Mutation_p.R307C|ZFX_ENST00000338565.3_Missense_Mutation_p.R486C	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GTTATTGAATCGCCACCTCTT	0.423000													62	75					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187686	130187686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:130187686C>T	ENST00000265379.6	+	38	7332	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S	COL6A5_ENST00000432398.2_Missense_Mutation_p.P2280S			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2280	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACTTATGAACCTGGAGATGT	0.368000													5	16					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363809	22363809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22363809G>A	ENST00000397121.2	-	3	1027	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGATTGAGGATCGATTAAA	0.353000													26	115					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131283178	131283178	+	Silent	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:131283178A>C	ENST00000261653.6	-	9	844	c.678T>G	c.(676-678)ggT>ggG	p.G226G	STX2_ENST00000392373.2_Silent_p.G226G	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	226	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TGATCATTTCACCCTTAAAAC	0.303000													20	63					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468147	61468147	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61468147T>A	ENST00000398019.2	+	7	970	c.645T>A	c.(643-645)aaT>aaA	p.N215K	SERPINB7_ENST00000540675.1_Missense_Mutation_p.N198K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N215K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N215K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	215					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGTTCAATTTGTCTGTTA	0.413000													46	105					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47361202	47361202	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:47361202C>T	ENST00000232766.5	+	2	209	c.189C>T	c.(187-189)ttC>ttT	p.F63F	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	63										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCCGTATTTCCATGCTATGT	0.448000													51	119					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192387	52192387	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:52192387G>A	ENST00000371471.2	-	4	3341	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	ZNF217_ENST00000302342.3_Silent_p.F972F			O75362	ZN217_HUMAN	zinc finger protein 217	972					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGAGCTCAGGAACCTTGGTT	0.552000													20	65					0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205389621	205389621	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:205389621T>A	ENST00000367153.4	-	2	146	c.44A>T	c.(43-45)cAa>cTa	p.Q15L	LEMD1_ENST00000367151.2_Missense_Mutation_p.Q15L|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.Q15L|LEMD1_ENST00000367152.1_Missense_Mutation_p.Q15L|LEMD1_ENST00000367149.3_Missense_Mutation_p.Q15L|LEMD1_ENST00000367154.1_Missense_Mutation_p.Q15L	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	15	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTTCTCAAGTTGGTTCTGCAA	0.363000													22	72					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57640197C>T	ENST00000254181.4	+	4	608	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q52*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338000													11	40					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637976	7637976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7637976C>T	ENST00000359156.4	-	11	2697	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	CD163_ENST00000541972.1_Missense_Mutation_p.R820K|CD163_ENST00000396620.3_Missense_Mutation_p.R865K|CD163_ENST00000432237.2_Missense_Mutation_p.R832K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	832	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGCCTCTCTGCTGGCTTC	0.483000													24	63					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791150	8791150	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:8791150C>T	ENST00000405863.1	+	3	1478	c.567C>T	c.(565-567)tcC>tcT	p.S189S	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Silent_p.S72S	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	189	V (Cys-rich).					extracellular region		p.S189S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAAAGATTCCAAGTCTTTTA	0.413000													6	29					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56926876	56926876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:56926876G>A	ENST00000438926.2	+	21	2487	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A810T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A811T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A819T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	811					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGACCCCAAGGCCCTGGTGAA	0.647000													9	19					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719308	50719308	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:50719308G>A	ENST00000449103.1	-	24	3998	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	PLXNB2_ENST00000359337.4_Silent_p.F1286F			O15031	PLXB2_HUMAN	plexin B2	1286					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGGGCAGGAAGAAGACGC	0.637000													10	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435608	179435608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179435608C>T	ENST00000589042.1	-	326	75475	c.75251G>A	c.(75250-75252)cGa>cAa	p.R25084Q	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16144Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23443Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16019Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22516Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16211Q|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23443	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R16211Q(1)|p.R16144Q(1)|p.R22514Q(1)|p.R16019Q(1)		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)			TGCGGCATTTCGGGCTATAAC	0.428000													31	102					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017845	200017845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200017845G>A	ENST00000367362.3	+	5	1255	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	NR5A2_ENST00000544748.1_Missense_Mutation_p.E265K|NR5A2_ENST00000236914.3_Missense_Mutation_p.E291K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	337					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAGCAAGCACGAAAAGCTGAG	0.463000													40	144					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456386	230456386	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:230456386G>A	ENST00000341772.4	-	2	629	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	165					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCGAGGCAGGATTTTGTCAG	0.557000													18	52					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261893	158261893	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158261893G>A	ENST00000368170.3	+	3	627	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	116					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAGTACAGGTGAAAGCGGGCT	0.428000													22	105					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85109504	85109504	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:85109504C>T	ENST00000566428.1	+	5	1189	c.558C>T	c.(556-558)ttC>ttT	p.F186F	KIAA0513_ENST00000258180.3_Silent_p.F186F|KIAA0513_ENST00000538274.1_Silent_p.F186F|KIAA0513_ENST00000567328.1_Silent_p.F186F			O60268	K0513_HUMAN	KIAA0513	186						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCATGTGCTTCACCTACTACC	0.502000													12	35					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173878855	173878855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:173878855C>T	ENST00000367698.3	-	5	1106	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	330					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGGGTGAGTTCCTTCTCTACC	0.552000													16	127					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588852	93588852	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:93588852G>A	ENST00000329082.7	-	4	1000	c.729C>T	c.(727-729)ttC>ttT	p.F243F	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Silent_p.F134F|RGMA_ENST00000556658.1_Silent_p.F134F|RGMA_ENST00000557301.1_Silent_p.F251F|RGMA_ENST00000425933.2_Silent_p.F227F|RGMA_ENST00000542321.2_Silent_p.F227F|RGMA_ENST00000543599.1_Silent_p.F227F	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	243					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGCCATCCACGAAGGCGGCCG	0.592000													17	33					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944566	50944566	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50944566C>T	ENST00000374103.4	-	21	2676	c.2590_splice	c.e21-1	p.G864_splice	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Splice_Site_p.G807_splice|OGDHL_ENST00000432695.1_Splice_Site_p.G655_splice	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	864					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAAGCTGGTCCCTGAGGGACC	0.632000													13	34					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087261	39087261	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:39087261G>A	ENST00000400482.3	-	3	788	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	KCNJ6_ENST00000288309.6_Missense_Mutation_p.H67Y	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	67					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACGTTGCCGTGATGAACATTG	0.478000													46	98					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048837	107048837	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:107048837C>T	ENST00000390627.2	-	0	403																											CCAGCCCCTTCCCTGGAGCCT	0.572000													51	239					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981157	75981157	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:75981157T>A	ENST00000308508.5	-	3	2341	c.2249A>T	c.(2248-2250)cAc>cTc	p.H750L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	750	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTAAGCGTGGTGCTGTGGGTC	0.642000													11	28					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10424676	10424676	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10424676G>A	ENST00000245503.5	-	40	6131	c.5747C>T	c.(5746-5748)gCt>gTt	p.A1916V	MYH2_ENST00000397183.2_Missense_Mutation_p.A1916V|MYH2_ENST00000532183.1_Missense_Mutation_p.A683V|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1916					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCAATGTCAGCCCGTTCCTC	0.488000													61	124					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707801	70707801	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70707801G>A	ENST00000226444.3	-	8	908	c.796C>T	c.(796-798)Cac>Tac	p.H266Y		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	266					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACTGTAAAGTGATTTTTCCAG	0.323000													12	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216173835	216173835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216173835G>A	ENST00000366943.2	-	33	6781	c.6395C>T	c.(6394-6396)tCc>tTc	p.S2132F	USH2A_ENST00000307340.3_Missense_Mutation_p.S2132F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2132	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGGACCCAGGAACTGTTTGT	0.453000										HNSCC(13;0.011)			36	46					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523306	24523306	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24523306T>C	ENST00000342740.5	+	3	299	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	49										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCCCTGACCTCCTGGCGCCT	0.617000													16	58					0	0	1	0	0
SCG5	6447	broad.mit.edu	37	15	32988793	32988793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:32988793G>A	ENST00000300175.4	+	6	732	c.622G>A	c.(622-624)Gat>Aat	p.D208N	SCG5_ENST00000497208.1_Missense_Mutation_p.D190N|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000494364.1_Missense_Mutation_p.D189N|SCG5_ENST00000413748.2_Missense_Mutation_p.D207N	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	208					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TTCAGATGAGGATAAGGATCC	0.413000													4	12					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179230	107179230	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:107179230C>T	ENST00000390634.2	-	0	108																											ACGGGACAGTCAGTAGCAGGA	0.517000													8	48					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858027	42858027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:42858027C>T	ENST00000334370.4	+	21	4296	c.3661C>T	c.(3661-3663)Cca>Tca	p.P1221S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1288S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1288	Laminin EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCTGCCTCCAGGTGGCGG	0.697000													3	9					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770075	15770075	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15770075C>T	ENST00000221307.7	+	13	1491	c.1443C>T	c.(1441-1443)gtC>gtT	p.V481V	CYP4F3_ENST00000586182.1_Silent_p.V481V|CYP4F3_ENST00000585846.1_Silent_p.V481V|CYP4F3_ENST00000591058.1_Silent_p.V481V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	481					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAAGGTGGTCCTGGGGCTCA	0.682000													6	30					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38954573C>T	ENST00000306658.7	-	3	669	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000													34	78					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67909919	67909919	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67909919C>T	ENST00000358933.5	+	2	393	c.154C>T	c.(154-156)Ccg>Tcg	p.P52S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	52					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGTCCCAGACCCGCTCTGCTC	0.552000													27	148					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196054	131196054	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:131196054G>A	ENST00000541194.1	-	2	502	c.245C>T	c.(244-246)gCg>gTg	p.A82V	PODXL_ENST00000537928.1_Missense_Mutation_p.A80V|PODXL_ENST00000378555.3_Missense_Mutation_p.A80V|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Missense_Mutation_p.A80V	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	80	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					AAGGGTGGTCGCCTTGACCGA	0.587000													32	46					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172857	51172857	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:51172857G>A	ENST00000440970.1	-	2	3416	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.F1092F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1092					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAACATGCACGAAGCCGTTGA	0.567000													15	48					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415121	121415121	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121415121A>G	ENST00000393667.3	-	13	4359	c.4249T>C	c.(4249-4251)Tct>Cct	p.S1417P	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1412P	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1412					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTGTCCAGAAAGGTAGCTA	0.368000													53	141					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422112	81422112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:81422112G>A	ENST00000541158.2	+	2	410	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Missense_Mutation_p.E30K|TSHR_ENST00000554435.1_Missense_Mutation_p.E30K|TSHR_ENST00000298171.2_Missense_Mutation_p.E30K|TSHR_ENST00000554263.1_Missense_Mutation_p.E30K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	30					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCACCCTGCGAGTGCCATCA	0.612000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						22	75					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592943	156592943	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156592943G>A	ENST00000302938.4	-	1	332	c.237C>T	c.(235-237)ccC>ccT	p.P79P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	79						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGGAGGATGGGGCTGGTGC	0.517000													25	79					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926885	43926885	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43926885G>A	ENST00000537548.1	-	8	1595	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	MATN4_ENST00000372751.4_Missense_Mutation_p.R302C|MATN4_ENST00000342716.4_Missense_Mutation_p.R451C|MATN4_ENST00000372754.1_Missense_Mutation_p.R492C|MATN4_ENST00000353917.5_Missense_Mutation_p.R369C|MATN4_ENST00000372753.1_Missense_Mutation_p.R302C|MATN4_ENST00000360607.5_Missense_Mutation_p.R410C|MATN4_ENST00000372756.1_Missense_Mutation_p.R451C			O95460	MATN4_HUMAN	matrilin 4	492	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCCAACACGAGGCACGTTA	0.662000													21	52					0	0	1	0	0
DDX11L1	100287102	broad.mit.edu	37	1	13372	13372	+	RNA	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:13372G>T	ENST00000456328.2	+	0	620					NR_046018.2|NR_051986.1																						CTGCTGTGTGGAAGTTCACTC	0.557000													5	11					0.000157383	0.000158175	1	1	0
PSG6	5675	broad.mit.edu	37	19	43411855	43411855	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43411855C>T	ENST00000187910.2	-	4	923	c.858G>A	c.(856-858)aaG>aaA	p.K286K	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.K286K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CAATGGGTCGCTTTACCCTCG	0.488000													112	315					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189898	58189898	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:58189898G>A	ENST00000302581.2	-	1	888	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCATGGGGATGATCATAGCAT	0.453000													30	44					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249009	20249009	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20249009T>C	ENST00000315957.4	+	1	609	c.528T>C	c.(526-528)agT>agC	p.S176S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTTAGACAGTTACTTCTGTG	0.493000													64	263					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605180	7605180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:7605180C>T	ENST00000256861.6	-	14	2773	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	ITIH5_ENST00000298441.6_Missense_Mutation_p.E685K|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.E681K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	899					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATCTGCTCTTCCCCGTTGTAA	0.537000													30	84					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129160347	129160347	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:129160347C>T	ENST00000280333.6	+	33	3349	c.3240C>T	c.(3238-3240)ttC>ttT	p.F1080F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1080					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGATAAAGTTCATTCCAGAAA	0.373000													8	21					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836268	43836268	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43836268A>T	ENST00000372781.3	+	2	387	c.330A>T	c.(328-330)aaA>aaT	p.K110N	SEMG1_ENST00000244069.6_Missense_Mutation_p.K110N	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCATAATAAACAAGAAGGCA	0.408000													33	79					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334151	108334151	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:108334151G>A	ENST00000520734.1	-	3	466	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	ANGPT1_ENST00000520052.1_Missense_Mutation_p.L61F|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	261					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGATTGACAAGGTTGTGGACT	0.378000													22	54					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41919926	41919926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:41919926C>T	ENST00000396512.3	+	12	1555	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ACO2_ENST00000216254.4_Missense_Mutation_p.A488V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	488					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GAGACCCATGCCTTTGTCACG	0.612000													27	43					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882760	152882760	+	Silent	SNP	C	C	T	rs142358562	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152882760C>T	ENST00000368764.3	+	2	551	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	IVL_ENST00000392667.2_Silent_p.L17L			P07476	INVO_HUMAN	involucrin	163	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggaggggcacctgaagcacct	0.597000													19	14					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27543155	27543155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:27543155C>T	ENST00000544915.1	+	8	1019	c.800C>T	c.(799-801)cCc>cTc	p.P267L	ARNTL2_ENST00000542388.1_Missense_Mutation_p.P216L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P287L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P301L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P253L|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P264L|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P264L|RP11-165P7.1_ENST00000500498.2_RNA	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	301					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGATGCTTACCCAACTCAAAG	0.353000													21	59					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76936816	76936816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:76936816C>T	ENST00000426216.2	+	8	799	c.782C>T	c.(781-783)tCg>tTg	p.S261L	ATP9B_ENST00000307671.7_Missense_Mutation_p.S261L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	261					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.S261L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTCCAAGGTTCGTGTTTTATT	0.463000													21	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585223	179585223	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179585223C>T	ENST00000589042.1	-	80	23490	c.23266G>A	c.(23266-23268)Gat>Aat	p.D7756N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7439N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6512N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7439	Ig-like 59.						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)			AGACTTGTATCAAAATGTTTT	0.393000													21	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466079	179466079	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179466079A>C	ENST00000589042.1	-	287	55869	c.55645T>G	c.(55645-55647)Tat>Gat	p.Y18549D	TTN_ENST00000359218.5_Missense_Mutation_p.Y9609D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y16908D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y9484D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y15981D|TTN_ENST00000342175.6_Missense_Mutation_p.Y9676D|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16908	Fibronectin type-III 34.						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)			CGGAAGAAATATTGCTGTTCA	0.453000													18	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072100	9072100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9072100C>T	ENST00000397910.4	-	3	15549	c.15346G>A	c.(15346-15348)Gaa>Aaa	p.E5116K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5118	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAAATTTCCTTTGTGTCT	0.443000													30	68					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209560	71209560	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71209560G>A	ENST00000393567.2	-	5	616	c.466C>T	c.(466-468)Cct>Tct	p.P156S	HYDIN_ENST00000541601.1_Missense_Mutation_p.P173S|HYDIN_ENST00000288168.10_Missense_Mutation_p.P173S|HYDIN_ENST00000321489.5_Missense_Mutation_p.P156S|HYDIN_ENST00000448089.2_Missense_Mutation_p.P156S|HYDIN_ENST00000538248.1_Missense_Mutation_p.P183S|HYDIN_ENST00000448691.1_Missense_Mutation_p.P156S|HYDIN_ENST00000393550.2_Missense_Mutation_p.P156S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	156										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCACTCCAGGAGCCACTTTG	0.448000													19	65					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2598524	2598524	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2598524C>T	ENST00000570628.1	-	15	2583	c.2478G>A	c.(2476-2478)aaG>aaA	p.K826K	CLUH_ENST00000435359.1_Silent_p.K826K|CLUH_ENST00000538975.1_Silent_p.K826K|CLUH_ENST00000575014.1_Silent_p.K759K					clustered mitochondria (cluA/CLU1) homolog																		GTAAGTACGTCTTGAAGATGT	0.632000													23	62					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105271375	105271375	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:105271375T>C	ENST00000306107.5	+	14	2110	c.1610T>C	c.(1609-1611)cTc>cCc	p.L537P	ALCAM_ENST00000472644.2_Missense_Mutation_p.L524P|ALCAM_ENST00000486979.2_Missense_Mutation_p.L486P|ALCAM_ENST00000389927.4_Missense_Mutation_p.L259P	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	537					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTGGTCTCCTCCTTGCTGCC	0.423000													42	112					0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181846925	181846925	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:181846925T>C	ENST00000410062.4	+	2	549	c.156T>C	c.(154-156)tcT>tcC	p.S52S	UBE2E3_ENST00000392415.2_Silent_p.S52S|UBE2E3_ENST00000602959.1_Silent_p.S52S|UBE2E3_ENST00000602632.1_Silent_p.S52S|UBE2E3_ENST00000602475.1_Silent_p.S52S|UBE2E3_ENST00000602710.1_Silent_p.S52S	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	52					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CCAAACTCTCTAGCAAAACCA	0.483000													25	72					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183233	11183233	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:11183233G>A	ENST00000390675.2	-	1	773	c.702C>T	c.(700-702)ttC>ttT	p.F234F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	234					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						ATAACAAGAGGAAAAAGATCA	0.403000													87	214					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208005	50208005	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50208005C>T	ENST00000392518.4	+	8	1104	c.732C>T	c.(730-732)tcC>tcT	p.S244S	CPT1C_ENST00000354199.5_Silent_p.S244S|CPT1C_ENST00000405931.2_Silent_p.S244S|CPT1C_ENST00000598293.1_Silent_p.S244S|CPT1C_ENST00000323446.5_Silent_p.S244S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	244					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACCTGCGCTCCCGAAATCCGC	0.607000													8	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974062	8974062	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:8974062C>T	ENST00000397910.4	-	76	42812	c.42609G>A	c.(42607-42609)caG>caA	p.Q14203Q	MUC16_ENST00000380951.5_Silent_p.Q844Q|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14264	SEA 14.			Missing (in Ref. 3; AAK74120).	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						GGAAATTTATCTGGTACTCGC	0.488000													5	14					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974696	200974696	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200974696G>A	ENST00000332129.2	-	4	890	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	KIF21B_ENST00000461742.2_Missense_Mutation_p.R192C|KIF21B_ENST00000360529.5_Missense_Mutation_p.R192C|KIF21B_ENST00000422435.2_Missense_Mutation_p.R192C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	192	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGATGAGGCGAGAAGTGACG	0.622000													31	33					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721376	176721376	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:176721376T>G	ENST00000439151.2	+	23	7052	c.7007T>G	c.(7006-7008)gTg>gGg	p.V2336G	NSD1_ENST00000361032.4_Missense_Mutation_p.V2233G|NSD1_ENST00000354179.4_Missense_Mutation_p.V2067G|NSD1_ENST00000347982.4_Missense_Mutation_p.V2067G	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2336	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCTCTCCAGTGACCAGCCCA	0.597000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	51					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33681076	33681076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33681076G>A	ENST00000394566.1	-	6	1473	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	SLFN11_ENST00000308377.4_Missense_Mutation_p.P401S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	401						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATCCTGGTGGGACTGTATGT	0.343000													20	40					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25492194	25492194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:25492194C>T	ENST00000329474.6	+	15	1530	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	388					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTCTTCTCCGTGGATGCCT	0.423000													14	38					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574462	102574462	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:102574462G>A	ENST00000249377.4	+	2	383	c.102G>A	c.(100-102)cgG>cgA	p.R34R	LRRC17_ENST00000339431.4_Silent_p.R34R|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	34					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCATGGCCGGGCGGGTGGAG	0.557000													19	34					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997595	115997595	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:115997595G>A	ENST00000264363.2	-	2	1276	c.598C>T	c.(598-600)Cct>Tct	p.P200S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	200	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCAGCAAAGGAGATTGAGGG	0.413000													24	72					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366490	49366490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:49366490C>T	ENST00000371610.2	+	3	827	c.584C>T	c.(583-585)tCc>tTc	p.S195F	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	195	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATCTTTATATCCAGGCTTGTC	0.458000													32	82					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582664	55582664	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55582664C>T	ENST00000361849.3	-	34	5222	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1605K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1539K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1608K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1585K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1568K|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1608					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTCATTTTCAGCTTTCTGC	0.443000										HNSCC(58;0.16)			50	104					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844446	106844446	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:106844446C>T	ENST00000276185.4	+	16	3276	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1092						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTCAAAATTTCCCTCCCAAAA	0.592000													24	32					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:108690227G>A	ENST00000232603.5	-	25	2582	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_ENST00000483760.1_Missense_Mutation_p.P813S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000													16	57					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751868	139751868	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:139751868C>T	ENST00000230993.6	+	20	2819	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000432095.2_Silent_p.V890V|SLC4A9_ENST00000506545.1_Silent_p.V841V|SLC4A9_ENST00000506757.2_Silent_p.V904V|SLC4A9_ENST00000507527.1_Silent_p.V928V	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	928	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGAGGGTCTTCTCACCAC	0.547000													4	14					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591043	67591043	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:67591043G>C	ENST00000521381.1	+	13	2252	c.1636G>C	c.(1636-1638)Gaa>Caa	p.E546Q	PIK3R1_ENST00000320694.8_Missense_Mutation_p.E246Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E546Q|PIK3R1_ENST00000274335.5_Missense_Mutation_p.E546Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E546Q|PIK3R1_ENST00000336483.5_Missense_Mutation_p.E276Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.E183Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	546					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGAAGATTGGAAGAAGACTT	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	57					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522183	113522183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:113522183C>T	ENST00000284601.3	-	3	945	c.877G>A	c.(877-879)Gac>Aac	p.D293N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	293					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTCCTTGTCCTCATGAGAA	0.318000													16	55					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18022346	18022346	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:18022346C>T	ENST00000278780.6	-	3	585	c.343G>A	c.(343-345)Gac>Aac	p.D115N	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	115					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCACCGAGTCGCTGCACGTG	0.612000													8	33					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067400	190067400	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:190067400C>T	ENST00000367462.3	-	8	2280	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L581L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		683						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTGCAAAATCAGGTCCCGAA	0.458000													18	110					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66863104	66863104	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:66863104G>A	ENST00000374690.3	+	2	2147	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	AR_ENST00000396043.2_Silent_p.E9E|AR_ENST00000396044.3_Silent_p.E541E|AR_ENST00000504326.1_Silent_p.E541E|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	540	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCAGTTTGGAGACTGCCAGGG	0.473000									Androgen Insensitivity Syndrome				33	49					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119023	55119023	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:55119023G>A	ENST00000414150.2	+	3	702	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	MROH7_ENST00000395690.2_Missense_Mutation_p.G142R|MROH7_ENST00000421030.2_Missense_Mutation_p.G142R|MROH7_ENST00000339553.5_Missense_Mutation_p.G142R|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		tctgagctctgggaaccaccc	0.517000													28	91					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41107522	41107522	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41107522C>T	ENST00000372684.3	-	3	545	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	RIMS3_ENST00000372683.1_Missense_Mutation_p.E26K	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	26					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCGCAGATTTCACCGCTAATG	0.672000													13	43					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70195462	70195462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70195462G>A	ENST00000550536.1	+	8	1596	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	RAB3IP_ENST00000362025.5_Missense_Mutation_p.R380Q|RAB3IP_ENST00000325555.9_Missense_Mutation_p.R158Q|RAB3IP_ENST00000551641.1_Missense_Mutation_p.R158Q|RAB3IP_ENST00000553099.1_Missense_Mutation_p.R158Q|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R364Q|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R364Q|RAB3IP_ENST00000550847.1_Missense_Mutation_p.R71Q|AC025263.3_ENST00000550437.1_Missense_Mutation_p.R5Q	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	380					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAACCTATCCGGTTTGTGAAA	0.398000													14	33					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80771688	80771688	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80771688G>A	ENST00000458043.2	+	58	6901	c.6895G>A	c.(6895-6897)Gaa>Aaa	p.E2299K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E2287K|OTOGL_ENST00000546620.1_Missense_Mutation_p.E318K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCAATATTGAAAGTCACCT	0.368000													5	10					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54867589	54867589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:54867589G>A	ENST00000371320.3	-	4	631	c.221C>T	c.(220-222)cCt>cTt	p.P74L	SSBP3_ENST00000371319.3_Missense_Mutation_p.P74L|SSBP3_ENST00000357475.4_Missense_Mutation_p.P74L|SSBP3_ENST00000417664.2_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTCCTTTCAGGAGCTGCACA	0.373000													17	62					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719119	42719119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:42719119G>A	ENST00000230882.4	+	10	1700	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	GHR_ENST00000357703.3_Missense_Mutation_p.G482S|GHR_ENST00000537449.1_Missense_Mutation_p.G317S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	504					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTTTCCCCGGGCCAAAAGAA	0.483000													6	25					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138550983	138550983	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:138550983C>T	ENST00000251691.4	+	5	580	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	138					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCTGAAGATCGCGGAGGTGA	0.483000													3	19					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000													20	42					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29847043	29847043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:29847043C>T	ENST00000357402.5	+	6	734	c.596C>T	c.(595-597)aCc>aTc	p.T199I	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.T199I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	199					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TGGCTGGTCACCACAGTAGGG	0.617000													5	17					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517644	195517644	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:195517644G>A	ENST00000463781.3	-	2	1266	c.807C>T	c.(805-807)tcC>tcT	p.S269S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S269S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	274					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGAGCCTGTGGAGGTTGTCA	0.473000													25	53					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433356	228433356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:228433356G>A	ENST00000570156.2	+	13	4074	c.4000G>A	c.(4000-4002)Ggc>Agc	p.G1334S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G1242S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1242S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	318	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGCTGGGGGCCAGAGAGT	0.512000													19	101					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201464445	201464445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:201464445G>A	ENST00000374700.2	+	5	653	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	138					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCCACTCTGGATCAGTTAAC	0.433000													20	37					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007653	6007653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6007653C>T	ENST00000332249.4	-	1	562	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTAATCCCCTCACCAGC	0.498000													21	32					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9483374	9483374	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9483374G>A	ENST00000402466.1	+	10	1382	c.614G>A	c.(613-615)gGg>gAg	p.G205E	SETD5_ENST00000407969.1_Missense_Mutation_p.G322E|SETD5_ENST00000402198.1_Missense_Mutation_p.G303E|SETD5_ENST00000406341.1_Missense_Mutation_p.G303E|SETD5_ENST00000302463.6_Missense_Mutation_p.G205E			Q9C0A6	SETD5_HUMAN	SET domain containing 5	303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAGTATCGTGGGAAAGTCATG	0.453000													28	108					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47329397	47329397	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:47329397G>A	ENST00000400314.1	+	8	806	c.468G>A	c.(466-468)agG>agA	p.R156R	PCBP3_ENST00000400304.1_Silent_p.R124R|PCBP3_ENST00000400308.1_Silent_p.R156R|PCBP3_ENST00000400309.1_Silent_p.R156R|PCBP3_ENST00000449640.1_Silent_p.R156R|PCBP3_ENST00000400310.1_Silent_p.R156R|PCBP3_ENST00000468429.1_3'UTR			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	156	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGGAGATCAGGGAGGTAACAG	0.667000													11	25					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964781	88964781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:88964781G>A	ENST00000333190.4	+	4	3094	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	829						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)			CATCTATTGTGATTCTAACTC	0.373000										HNSCC(36;0.09)			23	62					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062183	242062183	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:242062183G>A	ENST00000403638.3	-	12	3127	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PASK_ENST00000539818.1_Silent_p.F796F|PASK_ENST00000358649.4_Silent_p.F1012F|PASK_ENST00000405260.1_Silent_p.F1012F|PASK_ENST00000544142.1_Silent_p.F826F|PASK_ENST00000234040.4_Silent_p.F1012F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1012	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGTCCACACGAAGCCGAAGG	0.612000													29	82					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284079	43284079	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:43284079C>T	ENST00000511537.1	-	0	856					NR_033868.1																						CCTTATGTCTCCTACCCTCTG	0.498000													3	3					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:123333892G>A	ENST00000296513.2	+	10	1362	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_ENST00000388725.2_Missense_Mutation_p.E375K|ADAD1_ENST00000388724.2_Missense_Mutation_p.E382K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	393	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCAGATGGGAAGTGCTTGG	0.423000													59	203					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374302	95374302	+	RNA	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:95374302T>C	ENST00000494840.1	-	0	1559					NR_077228.1																						GGAATGTCAGTTCGCTTAATT	0.448000													24	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062579	9062579	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9062579G>A	ENST00000397910.4	-	3	25070	c.24867C>T	c.(24865-24867)ttC>ttT	p.F8289F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8291	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCGGAAGGGAAATCCTCTA	0.517000													24	53					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371295	83371295	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:83371295C>T	ENST00000262752.2	-	12	957	c.949_splice	c.e12-1	p.G317_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.G317_splice	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	317	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCCTTCTGATCCtataaaaaa	0.294000													4	8					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122622027	122622027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:122622027C>T	ENST00000319080.6	+	12	2176	c.2044C>T	c.(2044-2046)Cca>Tca	p.P682S	MLXIP_ENST00000538698.1_Missense_Mutation_p.P289S			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCGGGACTGCCCAAACTCAGG	0.617000													17	40					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338023	99338023	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:99338023C>T	ENST00000307518.5	+	3	564	c.297C>T	c.(295-297)tcC>tcT	p.S99S	ANKRD2_ENST00000298808.5_Silent_p.S99S|ANKRD2_ENST00000455090.1_Silent_p.S72S|ANKRD2_ENST00000370655.1_Silent_p.S72S			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	99					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCAAGACGTCCCTGGACCTGC	0.657000													8	16					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450746	114450746	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:114450746C>T	ENST00000369563.3	+	3	917	c.471C>T	c.(469-471)tcC>tcT	p.S157S	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	157					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTCCTTCCCGACAAGAAG	0.473000								Other identified genes with known or suspected DNA repair function					29	88					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:30371683C>T	ENST00000340513.4	+	13	2008	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	TPX2_ENST00000300403.6_Missense_Mutation_p.H458Y			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000													37	97					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29560217	29560217	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29560217C>G	ENST00000358273.4	+	27	4077	c.3694C>G	c.(3694-3696)Cct>Gct	p.P1232A	NF1_ENST00000356175.3_Missense_Mutation_p.P1232A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1232					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGTGGTTCCTTGTTCTCA	0.433000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			29	70					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217148305	217148305	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:217148305G>A	ENST00000273067.4	-	2	2430	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	222						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCTGCAGAGGATTTTTTGTG	0.572000													16	63					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75487069	75487069	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:75487069G>A	ENST00000399449.3	-	0	408				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							ATCATCACAGGGCCTCTGATC	0.502000													34	81					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450695	41450695	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:41450695A>T	ENST00000400454.1	-	26	5107	c.4630T>A	c.(4630-4632)Tat>Aat	p.Y1544N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1544	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCAGCTCATACCAGGTGGCT	0.567000													7	22					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001122	142001122	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142001122G>A	ENST00000455382.2	+	0	288																											TTATAATAATGAAATCTCAGA	0.398000													7	10					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928102	38928102	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38928102C>T	ENST00000335552.4	-	1	312	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	88	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGTTGAGATTCTGCATGGTCA	0.547000													35	102					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32824950	32824950	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:32824950C>T	ENST00000421745.2	+	70	14109	c.13975C>T	c.(13975-13977)Ctt>Ttt	p.L4659F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4659	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCCAAACCTTTATAATGA	0.333000													9	18					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162623	29162623	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29162623C>T	ENST00000321990.4	+	2	1902	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	508					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)				CAACCTTTTTCTTAAAAGAGA	0.299000													18	42					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43308569	43308569	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43308569C>T	ENST00000361428.2	-	9	3531	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1152					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACATGTTGCTCCCCAGAAATT	0.413000													33	130					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062252	216062252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216062252C>T	ENST00000366943.2	-	41	8125	c.7739G>A	c.(7738-7740)gGa>gAa	p.G2580E	USH2A_ENST00000307340.3_Missense_Mutation_p.G2580E|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2580	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTGACATTTCCAGGAGTTCT	0.418000										HNSCC(13;0.011)			108	99					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730271	93730271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:93730271G>A	ENST00000334746.5	-	4	1538	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	BTBD7_ENST00000554565.1_Missense_Mutation_p.H60Y|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	411										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCATATGGATGAGAACTCCAC	0.408000													24	63					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18048148	18048148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:18048148G>A	ENST00000250018.2	-	6	1254	c.692C>T	c.(691-693)cCt>cTt	p.P231L	TPH1_ENST00000341556.2_Missense_Mutation_p.P231L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	231					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACCAGCCACAGGACGGATGGA	0.413000													21	19					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44143993	44143993	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:44143993C>T	ENST00000398776.1	+	9	957	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	CAPN11_ENST00000542245.1_Missense_Mutation_p.H307Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	307	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCCAGGTCCACTACAGAGG	0.577000													13	42					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15716921	15716921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:15716921G>A	ENST00000396368.3	-	11	2536	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	KIAA0430_ENST00000551742.1_Missense_Mutation_p.S777L|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S774L|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S774L|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S446L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	776						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGCTGCTCGAATTTGCAAT	0.443000													28	44					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053683	67053683	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:67053683G>A	ENST00000295568.4	+	3	345	c.214G>A	c.(214-216)Gct>Act	p.A72T	KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.A98T|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	98	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGGTGTTGAAGCTGAATCGAT	0.413000													49	121					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44015333	44015333	+	Silent	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:44015333C>A	ENST00000269439.7	+	3	510	c.459C>A	c.(457-459)ccC>ccA	p.P153P	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	153							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCTCAGCCCAGGTATTTGG	0.622000													7	31					0.000157383	0.000158175	1	1	0
SPSB4	92369	broad.mit.edu	37	3	140866008	140866008	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:140866008T>G	ENST00000310546.2	+	3	1463	c.719T>G	c.(718-720)cTg>cGg	p.L240R	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	240	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CTGATGGACCTGTGCCGGAGA	0.622000													4	21					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578700	44578700	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:44578700G>A	ENST00000289547.4	-	2	1351	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	NPC1L1_ENST00000546276.1_Silent_p.F432F|NPC1L1_ENST00000381160.3_Silent_p.F432F|NPC1L1_ENST00000423141.1_Silent_p.F432F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	432					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGATTCCGCTGAAGTTCTTGG	0.597000													18	39					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770144	15770144	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15770144G>A	ENST00000221307.7	+	13	1560	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CYP4F3_ENST00000586182.1_Silent_p.L504L|CYP4F3_ENST00000585846.1_Silent_p.L504L|CYP4F3_ENST00000591058.1_Silent_p.L504L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	504					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCCGGAGCTGGTCCTGCGCG	0.652000													11	23					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402569	223402569	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:223402569G>A	ENST00000343846.3	-	5	1519	c.886C>T	c.(886-888)Cct>Tct	p.P296S	SUSD4_ENST00000366878.4_Missense_Mutation_p.P296S|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.P136S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	296	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGATAAGAAGGAAACCACTCT	0.522000													25	114					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837110	196837110	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:196837110G>A	ENST00000312428.6	-	16	2014	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	638	Stem (By similarity).				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						ACTCGATGAGGAAGGCGAGGC	0.393000													29	89					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100992431	100992431	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:100992431G>A	ENST00000376285.1	+	18	1599	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	PCCA_ENST00000376279.3_Missense_Mutation_p.E521K|PCCA_ENST00000376286.4_Missense_Mutation_p.E495K	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	521					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AACCAAGAGTGAGAAGAACCA	0.348000													15	25					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64467425	64467425	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:64467425C>T	ENST00000358025.3	+	28	3856	c.3626C>T	c.(3625-3627)aCt>aTt	p.T1209I	SYNE2_ENST00000554584.1_Missense_Mutation_p.T1209I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T1209I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1209					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTCAGATGACTCTTAATACC	0.303000													15	54					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147171	111147171	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:111147171G>A	ENST00000485317.1	-	3	907	c.234C>T	c.(232-234)ttC>ttT	p.F78F	KCNA2_ENST00000369770.3_Silent_p.F78F|KCNA2_ENST00000440270.1_Silent_p.F78F|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.F78F			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	78						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTTCCGATCGAAAAAGTACT	0.493000													27	61					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381904	43381904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:43381904C>T	ENST00000296088.7	+	5	1161	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SNRK_ENST00000429705.2_Missense_Mutation_p.S286L|SNRK_ENST00000454177.1_Missense_Mutation_p.S286L|SNRK_ENST00000437827.1_Missense_Mutation_p.S80L	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	286					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCCCTTGTGTCATACAAAAAT	0.478000													29	71					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184571773	184571773	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184571773T>A	ENST00000437079.3	+	12	1121	c.950T>A	c.(949-951)tTa>tAa	p.L317*	VPS8_ENST00000446204.2_Nonsense_Mutation_p.L315*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.L315*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.L317*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	317							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGTTTTCATTATTGGCCATG	0.378000													9	20					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399732	10399732	+	Silent	SNP	G	G	A	rs138249334		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10399732G>A	ENST00000226207.5	-	34	4885	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1597						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACTCCACGATTCTAATGT	0.443000													42	155					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510369	71510369	+	Missense_Mutation	SNP	G	G	A	rs140345705	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71510369G>A	ENST00000396073.3	+	9	3507	c.3226G>A	c.(3226-3228)Gat>Aat	p.D1076N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1076					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCCATCTAGCGATGGAAGGCA	0.428000													27	72					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80714217C>T	ENST00000458043.2	+	33	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1264F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000													21	40					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:151751698G>A	ENST00000368822.1	-	5	1075	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_ENST00000368824.3_Missense_Mutation_p.R148C|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.R144C|TDRKH_ENST00000458431.2_Missense_Mutation_p.R148C|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Missense_Mutation_p.R148C|TDRKH_ENST00000440583.2_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	148	KH 2.						RNA binding	p.R148C(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000													23	87					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39562435	39562435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:39562435G>A	ENST00000307712.6	-	3	752	c.235C>T	c.(235-237)Cga>Tga	p.R79*	SEC23A_ENST00000548032.2_Nonsense_Mutation_p.R79*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R79*|SEC23A_ENST00000536508.1_5'UTR	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	79					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGTTTTGCTCGATAATCCACT	0.348000													10	29					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434478	72434478	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:72434478C>T	ENST00000373208.1	+	2	249	c.249C>T	c.(247-249)ctC>ctT	p.L83L	ADAMTS14_ENST00000373207.1_Silent_p.L83L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	83					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCAGTCACCTCCGGGTGGCTC	0.642000													11	25					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642204	111642204	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:111642204C>G	ENST00000502935.1	-	10	1146	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E343Q|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E229Q|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E300Q			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	300					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGATGGTCTCGCTCACAGCA	0.562000													21	37					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915211	119915211	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:119915211C>T	ENST00000331113.4	+	1	1490	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	175					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGAGGGCCTTCGAGAACCCCC	0.612000													21	32					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428583	190428583	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:190428583C>T	ENST00000261024.2	-	7	1555	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	377					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGTGCCAATCCTGAGATCAGA	0.448000													28	36					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48164473	48164473	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:48164473C>T	ENST00000418331.2	+	12	2798	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	816	Fibronectin type-III 9.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgttttAGATCCCCCTCCTCC	0.418000													6	14					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56357810	56357810	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:56357810C>T	ENST00000340482.3	-	2	341	c.165G>A	c.(163-165)ggG>ggA	p.G55G	MPO_ENST00000225275.3_Silent_p.G55G			P05164	PERM_HUMAN	myeloperoxidase	55					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTCCACCTCCCCCAGGACAG	0.627000													7	25					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547253	28547253	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:28547253G>A	ENST00000357727.2	+	4	579	c.189G>A	c.(187-189)acG>acA	p.T63T	CREB5_ENST00000409603.1_Silent_p.T30T|CREB5_ENST00000396300.2_Silent_p.T56T|CREB5_ENST00000396299.2_Silent_p.T30T	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	63					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGACCCCAACGAGATTCCTGA	0.517000													52	159					0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878639	15878639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:15878639C>T	ENST00000304222.2	+	2	1314	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	328					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ACAGCCTGCTCTCGGTGTGGG	0.488000													26	83					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219360507	219360507	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:219360507A>G	ENST00000258399.3	-	14	1860	c.1448T>C	c.(1447-1449)gTt>gCt	p.V483A	USP37_ENST00000415516.1_Missense_Mutation_p.V411A|USP37_ENST00000454775.1_Missense_Mutation_p.V483A|USP37_ENST00000418019.1_Missense_Mutation_p.V483A	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	483					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGTGCTGAACCTCAAACTC	0.363000													16	39					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70928703	70928703	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70928703C>T	ENST00000334414.6	-	30	6158	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q	PTPRB_ENST00000261266.5_Silent_p.Q1820Q|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Silent_p.Q1950Q|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Silent_p.Q1730Q|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000451516.2_Silent_p.Q1730Q|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000538708.1_Silent_p.Q1730Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1820					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGGGAATCCTGGTCCGCTG	0.512000													16	22					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497467	50497467	+	Silent	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:50497467A>C	ENST00000267842.5	+	4	1111	c.879A>C	c.(877-879)tcA>tcC	p.S293S	SLC27A2_ENST00000380902.4_Silent_p.S240S|SLC27A2_ENST00000544960.1_Silent_p.S58S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	293					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTAAATTTTCAGCCAGCCAGT	0.408000													19	95					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774256	104774256	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:104774256G>A	ENST00000532510.1	-	0	3280																											TGTTGCCTCCGGACTTTCAAA	0.418000													8	12					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726525	73726525	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:73726525C>T	ENST00000200181.3	+	8	1129	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ITGB4_ENST00000449880.2_Silent_p.L314L|ITGB4_ENST00000450894.3_Silent_p.L314L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L314L|ITGB4_ENST00000339591.3_Silent_p.L314L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	314	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGCCTGCTCGCCAAGCACA	0.617000													22	43					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793046	143793046	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143793046G>A	ENST00000408949.2	+	1	906	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTTTCAACCCGATCCTGAACC	0.468000													101	271					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011391	34011391	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:34011391G>A	ENST00000382499.2	-	31	3858	c.3859C>T	c.(3859-3861)Cct>Tct	p.P1287S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1287S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1248S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1201S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1232S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1248	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTGCGGAGGAAAAGCAGCC	0.488000													34	100					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41870240	41870240	+	Silent	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:41870240C>G	ENST00000263798.3	+	19	2663	c.2439C>G	c.(2437-2439)ccC>ccG	p.P813P	TYRO3_ENST00000559066.1_Silent_p.P768P	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	813						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGGAGCCCACTGCGGGAG	0.607000													7	47					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214174840	214174840	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:214174840C>T	ENST00000413312.1	+	3	490	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	SPAG16_ENST00000272898.7_Missense_Mutation_p.L113F|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000331683.5_Missense_Mutation_p.L113F|SPAG16_ENST00000447990.1_Missense_Mutation_p.L113F|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Missense_Mutation_p.L113F			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	113					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGAAGACTTTCTCTGCAATTT	0.323000													16	29					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003923	44003923	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:44003923C>T	ENST00000372726.3	-	4	680	c.524G>A	c.(523-525)aGg>aAg	p.R175K	SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.R159K|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	175					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GAGTGGTTGCCTCCCCTGGAC	0.547000													37	108					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000													25	70					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20638545	20638545	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20638545G>A	ENST00000219151.4	-	11	1556	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	ACSM1_ENST00000520010.1_Silent_p.L465L|ACSM1_ENST00000307493.4_Silent_p.L465L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	465					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTCCTCCCCAGGAAACAAATG	0.507000													125	269					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349230	69349230	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:69349230C>T	ENST00000370598.1	+	3	1484	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	221					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTGTTACCCCTGAATGAGC	0.522000													18	42					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76072977	76072977	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:76072977G>A	ENST00000395215.3	+	0	366																											CTTCCTATAGGAAAAGAAAAC	0.507000													26	57					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894815	139894815	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:139894815C>T	ENST00000458420.3	+	2	322	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	44	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGCCATGGATCGAGACTTCAT	0.368000										HNSCC(16;0.037)			18	43					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568398	52568398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:52568398G>A	ENST00000389534.4	-	7	3196	c.2737C>T	c.(2737-2739)Ccg>Tcg	p.P913S	ZNF841_ENST00000594295.1_Missense_Mutation_p.P913S|ZNF841_ENST00000426391.2_Missense_Mutation_p.P797S|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.P489S	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACATCTAACGGCCTTTCCACA	0.388000													7	21					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173409	48173409	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:48173409G>A	ENST00000381501.3	-	4	458	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	101	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTCACCCACAGGTCCCTGCTT	0.328000													9	45					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653301	110653301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:110653301C>T	ENST00000338081.3	-	2	740	c.569G>A	c.(568-570)gGa>gAa	p.G190E	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.G109E|DCX_ENST00000356915.2_Missense_Mutation_p.G109E|DCX_ENST00000371993.2_Missense_Mutation_p.G109E|DCX_ENST00000356220.3_Missense_Mutation_p.G109E	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	190	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CTTCCTGGATCCATCAATGGT	0.498000													44	55					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78574739	78574739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:78574739C>T	ENST00000397909.2	+	30	5779	c.5606C>T	c.(5605-5607)tCc>tTc	p.S1869F	NAV3_ENST00000228327.6_Missense_Mutation_p.S1847F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1670F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1847F|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1869	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCGTCAGAATCCTCAAGCAGC	0.438000										HNSCC(70;0.22)			35	62					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469304	10469304	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10469304G>A	ENST00000382483.3	-	4	2527	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	768					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCATGTCCTGGACCCCGCGT	0.662000													16	45					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933326	83933326	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83933326T>C	ENST00000345382.2	-	4	762	c.677A>G	c.(676-678)aAc>aGc	p.N226S	BNC1_ENST00000569704.1_Missense_Mutation_p.N219S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	226					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGCTGGGGTTTCCTTTGTC	0.493000													45	122					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97202810	97202810	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:97202810C>T	ENST00000389672.5	+	10	2145	c.2107C>T	c.(2107-2109)Cca>Tca	p.P703S	EPHA6_ENST00000514100.1_Missense_Mutation_p.P95S|EPHA6_ENST00000502694.1_Missense_Mutation_p.P95S|EPHA6_ENST00000442602.2_Missense_Mutation_p.P69S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	608	Protein kinase.		F -> S.			integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTACATTGATCCAGATACATA	0.393000													13	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477263	179477263	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179477263G>A	ENST00000589042.1	-	266	50213	c.49989C>T	c.(49987-49989)atC>atT	p.I16663I	TTN_ENST00000359218.5_Silent_p.I7723I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I15022I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I7598I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I14095I|TTN_ENST00000342175.6_Silent_p.I7790I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15022	Fibronectin type-III 21.						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)			TATTTTTTGTGATATTAATAA	0.398000													7	20					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49458805	49458805	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:49458805C>T	ENST00000376150.3	-	3	196		c.e3-1			NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)						cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CACTGGACTCCTTGTGGTAGG	0.413000													2	4					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65563312	65563312	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:65563312G>A	ENST00000261888.6	-	2	718	c.273C>T	c.(271-273)tcC>tcT	p.S91S	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	91	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGACCTTTGAGGATAAAATCC	0.527000													107	233					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885139	88885139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:88885139G>A	ENST00000319675.3	-	1	1157	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	354										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGGTATGGGGAGGGTATGGT	0.627000													20	57					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970967	63970967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:63970967C>T	ENST00000358794.5	+	13	2126	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	STIP1_ENST00000305218.4_Missense_Mutation_p.R478W|STIP1_ENST00000538945.1_Missense_Mutation_p.R454W			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	478	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCAGTACAACCGGCACGACAG	0.592000													6	20					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505828	128505828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:128505828C>T	ENST00000368227.3	-	7	1277	c.911G>A	c.(910-912)gGg>gAg	p.G304E	PTPRK_ENST00000368210.3_Missense_Mutation_p.G304E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G304E|PTPRK_ENST00000368215.3_Missense_Mutation_p.G304E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G304E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.G304E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G304E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	304	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATATGTAGGCCCAACACCAAG	0.423000													38	58					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216500975	216500975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216500975C>T	ENST00000366943.2	-	5	1192	c.806G>A	c.(805-807)aGa>aAa	p.R269K	USH2A_ENST00000366942.3_Missense_Mutation_p.R269K|USH2A_ENST00000307340.3_Missense_Mutation_p.R269K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	269					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTTGCATTCTTCCGACAAA	0.368000										HNSCC(13;0.011)			30	116					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179874	166179874	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:166179874A>C	ENST00000357398.3	+	12	2170	c.1880A>C	c.(1879-1881)cAg>cCg	p.Q627P	SCN2A_ENST00000375427.2_Missense_Mutation_p.Q627P|SCN2A_ENST00000283256.6_Missense_Mutation_p.Q627P|SCN2A_ENST00000375437.2_Missense_Mutation_p.Q627P			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	627					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATGTCAGCCAGGCCAGCCGT	0.602000													11	29					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19344692	19344692	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:19344692C>T	ENST00000252575.5	+	9	3157	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	NCAN_ENST00000538881.1_Silent_p.F489F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1038	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATCAGGGCTTCGCCGGGGAGA	0.522000													14	58					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395765	100395765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:100395765G>A	ENST00000281806.2	-	3	579	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	MCHR2_ENST00000445970.1_Missense_Mutation_p.L89F|MCHR2_ENST00000369212.1_Missense_Mutation_p.L89F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGGTGAATAAGAAAAGGCATT	0.488000													24	94					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159603	52159603	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52159603G>A	ENST00000354534.5	+	16	2871	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E	SCN8A_ENST00000550891.1_Missense_Mutation_p.G898E|SCN8A_ENST00000545061.1_Missense_Mutation_p.G898E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	898					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAACTCTTTGGAAAAAGCTAC	0.468000													34	77					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200266	155200266	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:155200266C>T	ENST00000460012.1	-	23	3816	c.3459G>A	c.(3457-3459)gaG>gaA	p.E1153E	PLCH1_ENST00000340059.7_Silent_p.E1191E|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.E1153E|PLCH1_ENST00000414191.1_Silent_p.E1153E|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1191					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTGCCCGGCTCATTCTCAT	0.433000													12	56					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934841	9934841	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:9934841C>T	ENST00000396573.2	-	7	1758	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	GRIN2A_ENST00000396575.2_Silent_p.G483G|GRIN2A_ENST00000562109.1_Silent_p.G483G|GRIN2A_ENST00000404927.2_Silent_p.G483G|GRIN2A_ENST00000330684.3_Silent_p.G483G|GRIN2A_ENST00000535259.1_Silent_p.G326G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	483					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCCATGCTTCCCATTGGTCA	0.428000													26	111					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791982	41791982	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41791982G>A	ENST00000396930.3	-	18	4299	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	KAT6A_ENST00000265713.2_Silent_p.A1252A|KAT6A_ENST00000406337.1_Silent_p.A1252A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1252					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTGCTGGAGAGGCTGCTGGGA	0.582000													7	16					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425034	113425034	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113425034C>T	ENST00000392583.2	+	2	576	c.369C>T	c.(367-369)tcC>tcT	p.S123S	OAS2_ENST00000342315.4_Silent_p.S123S|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.S123S	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	123	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCAGAAGTCCCTTGATGGGT	0.468000													18	66					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139297304	139297304	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:139297304A>G	ENST00000298537.7	-	9	1386	c.1175T>C	c.(1174-1176)gTt>gCt	p.V392A	SDCCAG3_ENST00000357365.3_Missense_Mutation_p.V415A|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V342A|SDCCAG3_ENST00000461693.1_5'UTR	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	415						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GATTTCGGCAACAAGATTCAG	0.488000													5	31					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41228590	41228590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41228590G>A	ENST00000372652.1	+	7	860	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	NFYC_ENST00000372651.1_Missense_Mutation_p.G198S|NFYC_ENST00000427410.2_Missense_Mutation_p.G160S|NFYC_ENST00000372654.1_Missense_Mutation_p.G198S|NFYC_ENST00000440226.3_Missense_Mutation_p.G198S|NFYC_ENST00000456393.2_Missense_Mutation_p.G198S|NFYC_ENST00000425457.2_Missense_Mutation_p.G198S|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000447388.3_Missense_Mutation_p.G198S|NFYC_ENST00000308733.5_Missense_Mutation_p.G198S			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	198				G -> S (in Ref. 4; BAA12818/BAA14051).	protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTTGGAGAAGGTCAGCAGGT	0.542000													20	55					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588650	140588650	+	Missense_Mutation	SNP	T	T	G	rs146706483		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140588650T>G	ENST00000239450.2	+	1	360	c.171T>G	c.(169-171)agT>agG	p.S57R	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGGTGAGTGAGCTGTCTT	0.517000													28	89					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034168	150034168	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150034168C>T	ENST00000359623.4	+	3	806	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRRC61_ENST00000493307.1_Missense_Mutation_p.S73F|LRRC61_ENST00000323078.7_Missense_Mutation_p.S73F	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	73										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGCTGGCCTCCTTGCGCCAG	0.652000													23	44					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763053	43763053	+	Missense_Mutation	SNP	C	C	T	rs147249563	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43763053C>T	ENST00000418820.2	-	3	763	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.R315Q|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.R222Q|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	222	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.493000													50	160					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132657	37132657	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:37132657C>T	ENST00000361487.6	+	2	785	c.560C>T	c.(559-561)gCc>gTc	p.A187V	PAX9_ENST00000402703.2_Missense_Mutation_p.A187V|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	187	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGTTCGGTGGCCATGCCGCGC	0.687000													20	31					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48251023G>A	ENST00000229022.3	-	7	753	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000550325.1_Missense_Mutation_p.R208C|VDR_ENST00000395324.2_Missense_Mutation_p.R158C|VDR_ENST00000549336.1_Missense_Mutation_p.R158C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	158	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552000													9	35					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:61028352C>T	ENST00000373867.3	-	9	1119	c.654G>A	c.(652-654)cgG>cgA	p.R218R	FAM13C_ENST00000422313.2_Silent_p.R301R|FAM13C_ENST00000277705.6_Silent_p.R322R|FAM13C_ENST00000419214.2_Silent_p.R301R|FAM13C_ENST00000468840.2_Silent_p.R218R|FAM13C_ENST00000442566.3_Silent_p.R322R|FAM13C_ENST00000373868.2_Silent_p.R301R|FAM13C_ENST00000435852.2_Silent_p.R301R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000													13	55					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182550423	182550423	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:182550423G>A	ENST00000367559.3	-	5	2095	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	RNASEL_ENST00000444138.1_Silent_p.I614I|RNASEL_ENST00000539397.1_Silent_p.I614I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	614	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GTAGTCTGAGGATCTCACTTT	0.428000													118	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179542438C>T	ENST00000589042.1	-	146	34425	c.34201G>A	c.(34201-34203)Gaa>Aaa	p.E11401K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11084K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10157K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11084	Glu-rich.|Pro-rich.						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)			TATTCTTCTTCGGGAGGAACT	0.453000													30	70					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457219	77457219	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:77457219C>T	ENST00000451710.3	-	4	430	c.193G>A	c.(193-195)Gat>Aat	p.D65N	TRPM6_ENST00000360774.1_Missense_Mutation_p.D65N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D60N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D60N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D65N|TRPM6_ENST00000376872.3_Missense_Mutation_p.D65N|TRPM6_ENST00000376871.3_Missense_Mutation_p.D65N|TRPM6_ENST00000359047.2_Missense_Mutation_p.D65N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	65					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGAATAATCTATCCCAGCA	0.398000													45	36					0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850431	37850431	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:37850431C>T	ENST00000341016.3	+	1	362	c.339C>T	c.(337-339)tcC>tcT	p.S113S	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	113							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						TGCCCAAATCCAGGAAGAATG	0.498000													10	11					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468263	25468263	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:25468263C>T	ENST00000453082.2	+	0	811					NR_003343.1																						CAGTGCCCATCACCCAGGTGC	0.602000													30	50					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227876983	227876983	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:227876983C>T	ENST00000396625.3	-	45	4454	c.4247G>A	c.(4246-4248)aGg>aAg	p.R1416K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1413K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1416	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACACCCCTCCTGCCATCCAG	0.562000													11	31					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109839343	109839343	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:109839343C>T	ENST00000399132.1	-	13	1295	c.765G>A	c.(763-765)ggG>ggA	p.G255G	COL25A1_ENST00000399127.1_Silent_p.G251G|COL25A1_ENST00000399126.1_Silent_p.G255G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	255	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCCATTCATCCCTGGAATTC	0.284000													14	39					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96219594	96219594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:96219594G>A	ENST00000437043.3	+	3	1385	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.R225Q|ERAP2_ENST00000379904.4_Missense_Mutation_p.R225Q	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	225					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCAAGATACGAAGAGAGAGC	0.418000													17	48					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868835	7868835	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7868835G>A	ENST00000345088.2	+	3	486	c.369_splice	c.e3+1	p.K123_splice		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	123						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGGGAGTTAAGGTAAGTATAA	0.303000													6	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024172	9024172	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9024172C>T	ENST00000397910.4	-	18	37303	c.37100G>A	c.(37099-37101)aGa>aAa	p.R12367K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12369					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						CCCTGAGGTTCTGAGATCCAC	0.468000													8	15					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867880	7867880	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7867880C>T	ENST00000345088.2	+	2	301	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	62						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGCTTTACTCCGTCGAGAGTC	0.473000													24	39					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094978	150094978	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150094978G>T	ENST00000329630.5	+	3	1516	c.1409G>T	c.(1408-1410)gGt>gTt	p.G470V		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCACACGGGTGAGCGGCCC	0.701000													8	21					0.0477658	0.0478256	1	1	0
LIPK	643414	broad.mit.edu	37	10	90503044	90503044	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:90503044G>A	ENST00000404190.1	+	8	926	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	309					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTGATTGGGGAAACTCTGAT	0.333000													3	6					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785582	39785582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:39785582G>A	ENST00000518237.1	+	10	1729	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.E364K	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	364					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GCAGCCAAAGGAGAATAAGAC	0.458000													3	16					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338271	5338271	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:5338271G>A	ENST00000225698.4	-	3	480	c.399C>T	c.(397-399)ttC>ttT	p.F133F	C1QBP_ENST00000574444.1_Silent_p.F29F	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	133					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						TGTTAATGTTGAAAGTGACCG	0.433000													24	53					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034380	20034380	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:20034380G>A	ENST00000379651.3	-	10	1371	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	MAP7D2_ENST00000452324.3_Silent_p.A399A|MAP7D2_ENST00000443379.3_Silent_p.A406A|MAP7D2_ENST00000379643.5_Silent_p.A492A|MAP7D2_ENST00000543767.1_Silent_p.A336A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	451										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cctgctttcgggcttcctctt	0.488000													7	21					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034227	79034227	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:79034227A>G	ENST00000446378.2	+	2	9670	c.9639A>G	c.(9637-9639)gaA>gaG	p.E3213E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3213						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCTTCTGAAGGTGACAGTG	0.403000													9	25					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48018165	48018165	+	Silent	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:48018165C>A	ENST00000234420.4	+	2	512	c.360C>A	c.(358-360)atC>atA	p.I120I	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	120	PWWP.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAACATTCATCCGCGAGAAAG	0.478000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				43	80					1.57945e-13	1.60558e-13	1	1	0
CFI	3426	broad.mit.edu	37	4	110670693	110670693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:110670693G>A	ENST00000394634.2	-	9	1213	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CFI_ENST00000394635.3_Nonsense_Mutation_p.R344*|CFI_ENST00000512148.1_Nonsense_Mutation_p.R329*	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	336					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CGTTTCCTTCGAATGTGCATT	0.383000													17	74					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:168098448G>C	ENST00000519560.1	-	34	4301	c.3882C>G	c.(3880-3882)ggC>ggG	p.G1294G	SLIT3_ENST00000404867.3_Silent_p.G1294G|SLIT3_ENST00000332966.8_Silent_p.G1301G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1294	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1294G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTCCGTGCCCTGGCGCA	0.672000													5	15					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565787	40565787	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40565787C>T	ENST00000455577.2	+	9	2565	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	PAK6_ENST00000453867.1_Silent_p.I551I|PAK6_ENST00000542403.2_Silent_p.I551I|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Silent_p.I551I|PAK6_ENST00000260404.4_Silent_p.I551I|PAK6_ENST00000441369.1_Silent_p.I551I	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	551	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTGCTCAGATCAGCAAAGACG	0.557000													9	26					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497914	20497914	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20497914C>T	ENST00000573854.1	+	14	1762	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	ACSM2A_ENST00000575690.1_Silent_p.L550L|ACSM2A_ENST00000536134.1_Silent_p.L322L|ACSM2A_ENST00000219054.6_Silent_p.L550L|ACSM2A_ENST00000417235.2_Silent_p.L471L|ACSM2A_ENST00000396104.2_Silent_p.L550L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	550					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCTTGAACCTGCCCAAGAC	0.493000													35	211					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554272	28554272	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28554272C>T	ENST00000452236.2	-	1	840	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	75	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGGCAAAGTTCCCGCAGTTGA	0.542000													36	74					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818256	32818256	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32818256G>A	ENST00000354258.4	-	5	1430	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	TAP1_ENST00000425148.2_Silent_p.S162S|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	423	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCACCTGGCTGGACTTTGCCA	0.532000													18	45					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983834	89983834	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:89983834C>T	ENST00000222511.6	+	3	356	c.290C>T	c.(289-291)tCa>tTa	p.S97L	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	97					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GTGGGTATTTCAGTAACTGAT	0.333000													27	39					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55812995	55812995	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55812995T>A	ENST00000309383.1	+	8	1071	c.794T>A	c.(793-795)aTg>aAg	p.M265K	BRSK1_ENST00000590333.1_Missense_Mutation_p.M281K|BRSK1_ENST00000585418.1_Missense_Mutation_p.M265K	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	265	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTGAGGGGAATGATCGAAGTG	0.587000													5	18					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52847217	52847217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:52847217G>A	ENST00000351072.1	+	5	373	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	XAGE5_ENST00000375501.1_Missense_Mutation_p.E103K|XAGE5_ENST00000425386.1_Missense_Mutation_p.E103K|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	103										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TATTGCAGGGGAAGGGAAACC	0.343000													9	20					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197703559	197703559	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:197703559C>T	ENST00000330198.4	+	5	544	c.522C>T	c.(520-522)ccC>ccT	p.P174P	LMLN_ENST00000420910.2_Silent_p.P174P|LMLN_ENST00000482695.1_Silent_p.P122P|LMLN_ENST00000332636.5_Silent_p.P122P	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	174					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.P174P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AGTGCGGCCCCGTTATTGTTC	0.483000													40	120					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424634	179424634	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179424634G>A	ENST00000589042.1	-	326	86449	c.86225C>T	c.(86224-86226)cCt>cTt	p.P28742L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19802L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27101L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19677L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26174L|TTN_ENST00000342175.6_Missense_Mutation_p.P19869L|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27101	Fibronectin type-III 109.						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)			TGCTATCTGAGGGTCAGAGCT	0.403000													24	62					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208212226	208212226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:208212226G>A	ENST00000367033.3	-	25	5361	c.4604C>T	c.(4603-4605)gCc>gTc	p.A1535V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1535					axon guidance	integral to membrane|intracellular|plasma membrane		p.A1535V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTATACACGGCATCAAGAAT	0.527000													65	79					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51060569	51060569	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:51060569T>G	ENST00000441560.2	+	6	1009	c.528T>G	c.(526-528)taT>taG	p.Y176*	ATL1_ENST00000358385.6_Nonsense_Mutation_p.Y176*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.Y176*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.Y176*	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	176					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCAAGGTATATAACTTATCCC	0.318000													5	34					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:47360202C>T	ENST00000399249.2	-	22	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726H			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642000													4	9					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681813	91681813	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681813C>T	ENST00000518868.1	+	16	2319	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	C14orf159_ENST00000428926.2_Silent_p.V538V|C14orf159_ENST00000256324.10_Silent_p.V543V|C14orf159_ENST00000525393.2_Silent_p.V414V|C14orf159_ENST00000412671.2_Silent_p.V543V|C14orf159_ENST00000523816.1_Silent_p.V538V|C14orf159_ENST00000523771.1_Silent_p.V538V|C14orf159_ENST00000522322.1_Silent_p.V538V|C14orf159_ENST00000521077.2_Silent_p.V503V|C14orf159_ENST00000520328.1_Silent_p.V486V			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	538						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CATGTGCTGTCCACAGTCAGT	0.547000													17	63					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52950208	52950208	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:52950208G>A	ENST00000394752.3	-	14	1820	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	SFMBT1_ENST00000358080.2_Missense_Mutation_p.H480Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.H480Y|SFMBT1_ENST00000296295.6_Missense_Mutation_p.H480Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	480					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGGCCCTCGTGGACAGTCCTC	0.403000													15	41					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262692	140262692	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140262692C>T	ENST00000289272.2	+	1	839	c.839C>T	c.(838-840)tCa>tTa	p.S280L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S280L|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.S280L(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)			ATAGTTTACTCATTTAGAAGG	0.383000													28	63					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38297836	38297836	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:38297836G>A	ENST00000335922.5	-	3	875	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000532791.1_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000447712.2_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397103.1_Intron	NM_001174064.1	NP_001167535.1	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	27					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCGGCTGGCAGGACCCGGCCA	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						4	9					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004285	70004285	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70004285C>T	ENST00000361484.3	-	1	657	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	112						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGGGGAGGTCGCAGAGTTTG	0.572000													14	34					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752390	15752390	+	Silent	SNP	G	G	A	rs150573744	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15752390G>A	ENST00000221307.7	+	2	213	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F3_ENST00000586182.1_Silent_p.P55P|CYP4F3_ENST00000585846.1_Silent_p.P55P|CYP4F3_ENST00000591058.1_Silent_p.P55P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	55					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAACCCCCGAAACGGAATT	0.617000													25	67					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46257428	46257428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:46257428C>T	ENST00000336915.6	-	9	883	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	SKAP1_ENST00000584924.1_Missense_Mutation_p.E272K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	272					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGCAAGACTTCATAAATATCT	0.413000													29	101					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392635	22392635	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22392635G>A	ENST00000390440.2	+	0	233																											CAAAGTTATGGTCTATTCTGG	0.448000													35	95					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506143	149506143	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:149506143G>A	ENST00000261799.4	-	11	2083	c.1614C>T	c.(1612-1614)atC>atT	p.I538I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	538					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGGCCAGGATGGCTGAGA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								9	43					0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238401	21238401	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21238401G>A	ENST00000326783.3	+	2	190	c.92G>A	c.(91-93)aGa>aAa	p.R31K		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	31					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTTTCTTGGAGAGAATTCATG	0.438000													15	45					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175682	143175682	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143175682C>T	ENST00000408916.1	+	1	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCATCTCCTTCCTCATTCTTT	0.512000													27	58					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254982	15254982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:15254982C>T	ENST00000378116.4	-	8	2611	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	869						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGTCTTCTCCTTGGTCATCA	0.557000													62	127					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23738120	23738120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:23738120G>A	ENST00000308268.6	+	4	496	c.407G>A	c.(406-408)gGt>gAt	p.G136D	PSMA8_ENST00000343848.6_Missense_Mutation_p.G92D|PSMA8_ENST00000415576.2_Missense_Mutation_p.G130D	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGACCTTTTGGTATTTCTGCC	0.299000													43	78					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115664	52115664	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:52115664C>T	ENST00000222107.4	-	9	1614	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	SIGLEC5_ENST00000429354.3_Silent_p.K492K|SIGLEC5_ENST00000599649.1_Silent_p.K492K|SIGLEC5_ENST00000534261.2_Silent_p.K492K|SIGLEC5_ENST00000570106.2_Silent_p.K492K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	492					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCCAGGGCTTCTTCCTGGAAC	0.483000													30	80					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71398177	71398177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71398177C>T	ENST00000339336.4	+	9	755	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	AMTN_ENST00000504451.1_Nonsense_Mutation_p.Q208*	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	209					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGGAATTCAGTAAGCTGT	0.284000													5	26					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48468505	48468505	+	Silent	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48468505T>A	ENST00000004980.5	-	7	1102	c.624A>T	c.(622-624)atA>atT	p.I208I	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Silent_p.I208I|SENP1_ENST00000549595.1_Silent_p.I208I|SENP1_ENST00000551330.1_Silent_p.I208I|SENP1_ENST00000448372.1_Silent_p.I208I			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	208					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGGGTTTGGCTATAGTAAACT	0.323000													7	13					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8414189	8414189	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:8414189G>A	ENST00000447869.1	-	12	2331	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	STK33_ENST00000534493.1_Silent_p.F430F|STK33_ENST00000396673.1_Silent_p.F405F|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Silent_p.F284F|STK33_ENST00000396672.1_Silent_p.F471F|STK33_ENST00000315204.1_Silent_p.F471F			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	471						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTAGATGTGAAACTTGAAC	0.413000													36	71					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115351451	115351451	+	Silent	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:115351451T>G	ENST00000357872.4	+	18	2869	c.2745T>G	c.(2743-2745)gcT>gcG	p.A915A	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		915					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.A915A(1)									ACTGGCAAGCTGTGAGTAAAA	0.423000													15	49					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063089	55063089	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:55063089G>A	ENST00000371316.3	+	7	846		c.e7+1		ACOT11_ENST00000343744.2_Splice_Site|ACOT11_ENST00000481208.1_Splice_Site	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11						fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TTGCAGCCAGGTGAGGGCAGG	0.632000													5	12					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465898	160465898	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160465898G>A	ENST00000368059.3	-	2	404	c.335C>T	c.(334-336)tCc>tTc	p.S112F	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.S112F	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	112						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGTCTTTGTGGATATCTGGGC	0.428000													33	148					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149250	119149250	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:119149250C>G	ENST00000264033.4	+	9	1634	c.1258C>G	c.(1258-1260)Cga>Gga	p.R420G		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	420	Asp/Glu-rich (acidic).		R -> Q (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion as well as constitutive ERK phosphorylation).		epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.R420*(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCTTTCTGCCGATGTGAAAT	0.448000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				33	64					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74334467	74334467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:74334467G>A	ENST00000263665.6	-	19	2720	c.2693C>T	c.(2692-2694)aCc>aTc	p.T898I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	898	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CGTTTTCTTGGTGGTTACATT	0.453000													33	138					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640595	57640595	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57640595G>A	ENST00000254181.4	+	4	1006	c.552G>A	c.(550-552)ctG>ctA	p.L184L	USP29_ENST00000598197.1_Silent_p.L184L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	184					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L184L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGACATTCTGAAGGAAGATA	0.358000													21	78					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202571546	202571546	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:202571546T>C	ENST00000367267.1	-	5	785	c.593A>G	c.(592-594)aAg>aGg	p.K198R	SYT2_ENST00000367268.4_Missense_Mutation_p.K198R	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	198	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTTCAGTGTCTTCCGATGGAC	0.522000													34	134					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170366961	170366961	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170366961C>T	ENST00000284669.1	+	1	750	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TATCCGTTTTCGCCTTATGAC	0.348000													26	83					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897364	153897364	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:153897364C>T	ENST00000511601.1	+	12	3109	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P974L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	974					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGGACGTTCCCCTGCAGCCC	0.667000													7	32					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588527	247588527	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247588527G>A	ENST00000366497.2	+	4	2562	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	NLRP3_ENST00000348069.2_Silent_p.K594K|NLRP3_ENST00000336119.3_Silent_p.K594K|NLRP3_ENST00000391827.2_Silent_p.K594K|NLRP3_ENST00000391828.3_Silent_p.K594K|NLRP3_ENST00000366496.2_Silent_p.K594K|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	594					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.K594N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTTGGAGAAGAAATTAAGTT	0.443000													34	59					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:69093461C>T	ENST00000295379.1	-	2	735	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	193					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000													17	69					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044195	133044195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:133044195C>T	ENST00000262283.5	-	16	1699	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	OC90_ENST00000254627.3_Missense_Mutation_p.E322K|OC90_ENST00000443356.2_Missense_Mutation_p.E338K|OC90_ENST00000603859.1_Missense_Mutation_p.E322K			Q02509	OC90_HUMAN	otoconin 90	338					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GACTCAAATTCCTCCGGGCAC	0.537000													14	44					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563101	140563101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140563101G>A	ENST00000361016.2	+	1	2122	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCCACAGATGGGGGAGG	0.488000													26	89					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470779	72470779	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72470779A>T	ENST00000360141.3	+	3	776	c.488A>T	c.(487-489)cAc>cTc	p.H163L	CD300A_ENST00000310828.5_Missense_Mutation_p.H50L|CD300A_ENST00000577511.1_Missense_Mutation_p.H33L|CD300A_ENST00000392625.3_Missense_Mutation_p.H50L|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	163					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGTGCCACCCACAGTGCCAGC	0.552000													16	59					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414392	26414392	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26414392A>C	ENST00000265944.5	+	19	2135	c.1969A>C	c.(1969-1971)Act>Cct	p.T657P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	657	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGTGTGGTCACTAGAGGAGA	0.418000													20	55					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120602772	120602772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:120602772G>A	ENST00000427067.2	-	13	1348	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R446*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.R33*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.R394*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R394*			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	394					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTGGATCGAATTCTTCCT	0.333000													7	26					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880488	48880488	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48880488C>T	ENST00000314014.2	+	4	245	c.114C>T	c.(112-114)atC>atT	p.I38I	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Silent_p.I38I	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	38										endometrium(1)|large_intestine(4)	5						AGGTAACCATCACTGAAACCC	0.448000													12	36					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43097974	43097974	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43097974C>T	ENST00000230419.4	+	4	698	c.477C>T	c.(475-477)acC>acT	p.T159T	PTK7_ENST00000471863.1_Silent_p.T159T|PTK7_ENST00000352931.2_Silent_p.T159T|PTK7_ENST00000481273.1_Silent_p.T167T|PTK7_ENST00000349241.2_Silent_p.T159T|PTK7_ENST00000345201.2_Silent_p.T159T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	159	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCCCACCTACCAATGGT	0.602000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	86					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539434	55539434	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55539434G>A	ENST00000220676.1	+	4	3140	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	998					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTGCCAATGACACTGGTGA	0.378000													49	147					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67694967	67694967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67694967C>T	ENST00000458121.2	+	1	117	c.26C>T	c.(25-27)gCg>gTg	p.A9V	PARD6A_ENST00000602551.1_Missense_Mutation_p.A9V|PARD6A_ENST00000219255.3_Missense_Mutation_p.A9V	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	9	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGGACTCCGGCGCGCAGTCCC	0.741000													14	70					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747769	143747769	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143747769T>A	ENST00000408906.2	+	1	309	c.275T>A	c.(274-276)aTc>aAc	p.I92N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92N(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGAAAAACAATCTCCTTTGTC	0.428000													70	144					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498857	216498857	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216498857G>A	ENST00000366943.2	-	6	1319	c.933C>T	c.(931-933)gtC>gtT	p.V311V	USH2A_ENST00000366942.3_Silent_p.V311V|USH2A_ENST00000307340.3_Silent_p.V311V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	311	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAAAGGGTGGACCCGCGGGT	0.522000										HNSCC(13;0.011)			25	74					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745528	167745528	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167745528T>C	ENST00000470487.1	-	12	2300	c.1611A>G	c.(1609-1611)gaA>gaG	p.E537E	GOLIM4_ENST00000309027.4_Silent_p.E509E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	537	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						CTGCCTCAGATTCTGGGTCGG	0.493000													48	120					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921396	82921396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:82921396C>T	ENST00000393389.3	+	4	1317	c.385C>T	c.(385-387)Cct>Tct	p.P129S	ANKRD42_ENST00000526731.1_Missense_Mutation_p.P129S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.P16S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.P101S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.P129S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.P129S|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.P129S			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	101										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGATGCACTCCTTTACATCT	0.398000													31	57					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41493903	41493903	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41493903G>A	ENST00000402904.2	-	16	2314	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	SCMH1_ENST00000397174.2_Missense_Mutation_p.S607F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S588F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S469F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S566F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S566F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S580F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S580F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S637F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S649F|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000361191.5_Missense_Mutation_p.S566F	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	649	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGTGGTAGGAGAGCTTGAG	0.587000													23	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057930	9057930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9057930G>A	ENST00000397910.4	-	3	29719	c.29516C>T	c.(29515-29517)aCc>aTc	p.T9839I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9841	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGTATGGTTATGGTTGT	0.478000													37	71					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140502505G>A	ENST00000194152.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000													46	116					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17331140	17331140	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:17331140C>T	ENST00000529010.1	+	6	620	c.401C>T	c.(400-402)gCt>gTt	p.A134V	NUCB2_ENST00000458064.2_Missense_Mutation_p.A134V|NUCB2_ENST00000323688.6_Missense_Mutation_p.A134V	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	134						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCACCAAGCTCTTCTAAAA	0.313000													37	59					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168259	139168259	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:139168259G>A	ENST00000340940.4	-	1	199	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	KLRG2_ENST00000393039.2_Missense_Mutation_p.P44S	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	44	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTGCTTTCGGGACCTTCAGGT	0.711000													8	21					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175156	140175156	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140175156G>A	ENST00000526136.1	+	1	607	c.607G>A	c.(607-609)Gag>Aag	p.E203K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E203K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E203K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGAGGAAACTGC	0.443000													34	82					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960409	150960409	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:150960409G>A	ENST00000368947.4	+	10	1150	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	225			R -> Q (in dbSNP:rs7542365).		cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCACCCAGCGAAATCCTGAA	0.562000													21	74					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875845	16875845	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16875845G>A	ENST00000524140.2	+	10	2670	c.2251_splice	c.e10-1	p.G751_splice	NWD1_ENST00000339803.6_Splice_Site_p.G616_splice|NWD1_ENST00000379808.3_Splice_Site_p.G751_splice|NWD1_ENST00000523826.1_Splice_Site_p.G545_splice|NWD1_ENST00000549814.1_Splice_Site_p.G751_splice|NWD1_ENST00000552788.1_Splice_Site_p.G751_splice	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	751							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCCCTCAGGCAGCATGAGC	0.582000													8	27					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71376437	71376437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71376437C>T	ENST00000244230.2	+	10	2102	c.1750C>T	c.(1750-1752)Caa>Taa	p.Q584*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	584					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAATATCAAAAGCGTAT	0.358000													4	15					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724016	142724016	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142724016C>T	ENST00000350513.2	-	1	266	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCAGGATCTCCAGGGTAGAGA	0.458000													29	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476318	179476318	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179476318C>T	ENST00000589042.1	-	269	50862	c.50638G>A	c.(50638-50640)Ggt>Agt	p.G16880S	TTN_ENST00000359218.5_Missense_Mutation_p.G7940S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15239S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7815S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14312S|TTN_ENST00000342175.6_Missense_Mutation_p.G8007S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15239	Fibronectin type-III 22.						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)			GGACTTCCACCATTTTTCTCT	0.448000													33	65					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248451	48248451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:48248451C>T	ENST00000400384.2	+	4	1871	c.835C>T	c.(835-837)Cct>Tct	p.P279S	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.P68S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	279	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAAGCTGCTCCCTGAAGTGAA	0.612000													6	16					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867813	207867813	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:207867813G>A	ENST00000508064.2	+	5	639	c.579G>A	c.(577-579)ggG>ggA	p.G193G	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	193	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGCAGAGGGAAAAAGGTGT	0.502000													101	131					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614149	3614149	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:3614149G>A	ENST00000301749.7	-	0	1194				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGATCCAGATGGAAACTT	0.592000													15	27					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35402022	35402022	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:35402022C>T	ENST00000453357.2	+	1	113	c.57C>T	c.(55-57)ttC>ttT	p.F19F	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000420357.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTCCGGGTTCCTGTTGGACT	0.418000													16	53					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62837080	62837080	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62837080G>A	ENST00000536311.1	+	6	688	c.324G>A	c.(322-324)tcG>tcA	p.S108S	MYT1_ENST00000328439.1_Silent_p.S108S|MYT1_ENST00000360149.4_Silent_p.S108S			Q01538	MYT1_HUMAN	myelin transcription factor 1	108					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGGATGAATCGGAAGGAACTC	0.592000													14	25					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32820001	32820001	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32820001G>A	ENST00000354258.4	-	3	1070	c.909C>T	c.(907-909)ttC>ttT	p.F303F	TAP1_ENST00000425148.2_Silent_p.F42F|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	303	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGTCACCCACGAACTCCAGCA	0.532000													25	52					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704322	47704322	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:47704322C>T	ENST00000397708.1	-	2	1133	c.879G>A	c.(877-879)agG>agA	p.R293R	MCM3AP_ENST00000291688.1_Silent_p.R293R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGTCCTCCTTCCTTTTCAGTC	0.567000													38	115					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786621	160786621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160786621C>T	ENST00000263285.5	+	5	1340	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.S89F|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.S89F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	437	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGCAGGAGTTCCCACCAGTTT	0.502000													27	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075372	9075372	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9075372T>A	ENST00000397910.4	-	3	12277	c.12074A>T	c.(12073-12075)gAc>gTc	p.D4025V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4027	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGCTGGTGTCCATGTAAGG	0.468000													30	77					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27695613	27695613	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:27695613G>A	ENST00000438929.1	-	2	359	c.219C>T	c.(217-219)ttC>ttT	p.F73F	BDNF_ENST00000314915.6_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000395980.2_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000420794.1_5'UTR|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395986.2_Intron	NM_001143810.1	NP_001137282.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	0						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCACCTTTATGAAACCATTTT	0.403000													3	10					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230714	18230714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:18230714G>A	ENST00000380033.4	-	4	595	c.463C>T	c.(463-465)Cca>Tca	p.P155S	BEND2_ENST00000380030.3_Missense_Mutation_p.P155S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	155										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCTCTTTTTGGAAAATCCACT	0.348000													17	40					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028973	150028973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:150028973C>T	ENST00000394243.1	+	3	2242	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	SYNPO_ENST00000522122.1_Missense_Mutation_p.S623F|SYNPO_ENST00000307662.4_Missense_Mutation_p.S379F|SYNPO_ENST00000519664.1_Missense_Mutation_p.S379F	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	623					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGCAAATCCATGTTTACT	0.612000													14	46					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96448000	96448000	+	Silent	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96448000C>G	ENST00000285979.6	+	3	649	c.450C>G	c.(448-450)cgC>cgG	p.R150R	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.R150R	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGGAAGCCCGCTGCCTTGTGG	0.418000													23	99					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129120669	129120669	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:129120669C>T	ENST00000249344.2	+	19	2028	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	STRIP2_ENST00000435494.2_Missense_Mutation_p.S663F	NM_020704.2	NP_065755.1			striatin interacting protein 2																		AACCTCTTTTCCTGCATCAAC	0.448000													23	94					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142487537	142487537	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142487537G>A	ENST00000430863.1	-	0	1491					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCCTGCTGGCGACTCCGCGTG	0.652000													12	25					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24718782	24718782	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:24718782G>A	ENST00000396475.2	+	11	1446	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	MPP6_ENST00000409761.1_Missense_Mutation_p.D271N|MPP6_ENST00000222644.4_Missense_Mutation_p.D383N	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	383	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGATGAAAAAGATGGCCAGGC	0.338000													22	88					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137761296	137761296	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:137761296C>T	ENST00000242375.3	+	1	74	c.32C>T	c.(31-33)cCt>cTt	p.P11L	AKR1D1_ENST00000411726.2_Missense_Mutation_p.P11L|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.P11L	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	11					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.P11R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACCGCATACCTCTAAGTGAT	0.443000													9	39					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572106	101572106	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:101572106C>T	ENST00000326172.5	+	5	851	c.736C>T	c.(736-738)Cct>Tct	p.P246S	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P146S|NFKBIZ_ENST00000326151.5_Intron	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CGTGGTGGTCCCTCAGAGCTC	0.527000													34	97					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40581068	40581068	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40581068C>T	ENST00000260402.3	-	32	3655	c.3406G>A	c.(3406-3408)Gca>Aca	p.A1136T	PLCB2_ENST00000557821.1_Missense_Mutation_p.A1132T|PLCB2_ENST00000456256.2_Missense_Mutation_p.A1121T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1136					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCACCTCTGCCTCCAGACCC	0.657000													23	60					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317817	31317817	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:31317817T>C	ENST00000265071.2	+	11	1933	c.1668T>C	c.(1666-1668)taT>taC	p.Y556Y	CDH6_ENST00000514738.1_Silent_p.Y501Y	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	556	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAATGGCTATAATAGACACG	0.468000													31	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486272	179486272	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179486272G>A	ENST00000589042.1	-	245	45503	c.45279C>T	c.(45277-45279)caC>caT	p.H15093H	TTN_ENST00000359218.5_Silent_p.H6153H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.H13452H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.H6028H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.H12525H|TTN_ENST00000342175.6_Silent_p.H6220H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13452	Fibronectin type-III 9.						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)			CATCCTCAAGGTGAGCGTTCT	0.418000													22	38					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186280283	186280283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:186280283G>A	ENST00000445192.2	+	9	3662	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	PRG4_ENST00000367486.3_Missense_Mutation_p.G1163E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1165E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1113E|PRG4_ENST00000367484.3_Missense_Mutation_p.G735E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1206	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACTGTGAAGGAAAAACTTTC	0.343000													29	48					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110325	73110325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:73110325C>T	ENST00000264839.7	+	30	4535	c.4535C>T	c.(4534-4536)tCa>tTa	p.S1512L	RIMS1_ENST00000401910.3_Missense_Mutation_p.S983L|RIMS1_ENST00000517827.1_Missense_Mutation_p.S797L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S1446L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S1313L|RIMS1_ENST00000521978.1_Missense_Mutation_p.S1663L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1446L|RIMS1_ENST00000538414.1_Missense_Mutation_p.S469L|RIMS1_ENST00000523963.1_Missense_Mutation_p.S788L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S1342L|RIMS1_ENST00000414192.2_Missense_Mutation_p.S190L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S1262L|RIMS1_ENST00000425662.2_Missense_Mutation_p.S731L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S1452L|RIMS1_ENST00000431478.2_3'UTR			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1663					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCACCGTCCTCACTGGTGGAT	0.522000													6	87					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829216	35829216	+	Silent	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:35829216A>T	ENST00000085219.5	+	6	1197	c.1131A>T	c.(1129-1131)acA>acT	p.T377T	CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Silent_p.T257T|CD22_ENST00000419549.2_Silent_p.T205T|CD22_ENST00000544992.2_Silent_p.T377T|CD22_ENST00000341773.6_Intron|CD22_ENST00000536635.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	377	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGGAAGGACAGAGGAGAAAG	0.512000													23	61					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368932	22368932	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22368932C>T	ENST00000332663.2	+	1	455	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAGTGATGGCCTTTGACCTCT	0.502000													21	241					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268141	103268141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:103268141C>T	ENST00000217926.5	-	1	118	c.92G>A	c.(91-93)gGa>gAa	p.G31E		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	31					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.G31A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGAGGAAGGTCCAGCCATGGC	0.612000													10	24					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254700	30254700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:30254700C>T	ENST00000359358.4	-	9	2245	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	603						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACATCTCCTTCGAGTTCTGTC	0.473000													58	142					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368931	22368931	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22368931C>T	ENST00000332663.2	+	1	454	c.356C>T	c.(355-357)gCc>gTc	p.A119V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAGTGATGGCCTTTGACCTC	0.502000													24	238					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246487	233246487	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:233246487G>A	ENST00000392027.2	+	11	1859	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	530						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTGCTGGAGACGGCCACTG	0.736000													3	3					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387725	56387725	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:56387725G>A	ENST00000423270.1	-	9	2200	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	RFX7_ENST00000422057.1_Missense_Mutation_p.S637F|RFX7_ENST00000559447.2_Missense_Mutation_p.S637F|RFX7_ENST00000317318.6_Missense_Mutation_p.S734F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	637					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGGCAGAGGAATTCAAGGG	0.413000													22	57					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764404	138764404	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:138764404A>T	ENST00000242351.5	-	4	1599	c.1283T>A	c.(1282-1284)tTt>tAt	p.F428Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.F428Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.F428Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	428					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTATTATTAAAAAGAGGGCC	0.453000													40	92					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764565	184764565	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:184764565G>A	ENST00000367511.3	-	14	2526	c.2333C>T	c.(2332-2334)cCc>cTc	p.P778L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	778	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGGGCCTCGGGACAGGGAGG	0.632000													68	323					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8075622	8075622	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:8075622G>A	ENST00000377482.5	-	2	281	c.58C>T	c.(58-60)Cta>Tta	p.L20L	ERRFI1_ENST00000474874.1_Silent_p.L20L|ERRFI1_ENST00000469499.1_Silent_p.L20L|ERRFI1_ENST00000467067.1_Silent_p.L20L	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	20					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCATTATGTAGAAATCCAGTT	0.468000													78	234					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45303659	45303659	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:45303659C>T	ENST00000270279.3	+	10	1447	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	CBLC_ENST00000341505.4_Missense_Mutation_p.P416S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	462					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGGGAACTCCCCTCCAGCTGC	0.617000			M		AML						OREG0025543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	35					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10078985	10078985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:10078985C>T	ENST00000382452.2	-	14	1939	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Missense_Mutation_p.D413N|WDR1_ENST00000502702.1_Missense_Mutation_p.D413N|WDR1_ENST00000499869.2_Missense_Mutation_p.D553N	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	553					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACCATCATGTCCATGCCACCG	0.532000													13	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026299	9026299	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9026299C>T	ENST00000397910.4	-	14	36890	c.36687G>A	c.(36685-36687)ctG>ctA	p.L12229L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12231	SEA 2.				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						TGAACGGCATCAGGAGAGGGC	0.468000													45	123					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101575033	101575033	+	Missense_Mutation	SNP	C	C	T	rs145667218		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:101575033C>T	ENST00000310954.6	-	12	2222	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	646					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCATTTATATCCCAAAGAATA	0.343000													9	37					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911970	46911970	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:46911970G>A	ENST00000378623.1	-	14	2015	c.1773C>T	c.(1771-1773)atC>atT	p.I591I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	591					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TATCGGCAATGATGCGGCGTC	0.552000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281750	103281750	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:103281750C>T	ENST00000233969.2	+	3	1087	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	315						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTTTGTTTTCCTGTACAGTT	0.438000													26	71					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733329	40733329	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:40733329G>A	ENST00000373198.3	-	26	3721	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	PTPRT_ENST00000373187.1_Silent_p.I1140I|PTPRT_ENST00000373184.1_Silent_p.I1150I|PTPRT_ENST00000373201.1_Silent_p.I1130I|PTPRT_ENST00000373190.1_Silent_p.I1139I|PTPRT_ENST00000356100.2_Silent_p.I1149I|PTPRT_ENST00000373193.3_Silent_p.I1143I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1140					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGCTTCCAGGATGGCATCGT	0.527000													28	57					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67203243	67203243	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67203243C>T	ENST00000264009.8	+	14	2281	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	HSF4_ENST00000421453.1_Missense_Mutation_p.P409L|HSF4_ENST00000521374.1_Missense_Mutation_p.P439L|HSF4_ENST00000584272.1_Missense_Mutation_p.P409L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	439					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TTAAATTCTCCAAGCCCAGGT	0.587000													6	11					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990594	39990594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:39990594C>T	ENST00000332312.3	-	4	1807	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	539						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCTGCCAGGCCTTCACCTCT	0.652000													23	39					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56920956	56920956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:56920956C>T	ENST00000438926.2	+	17	2158	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	SLC12A3_ENST00000262502.5_Missense_Mutation_p.S709L|SLC12A3_ENST00000563236.1_Missense_Mutation_p.S710L|SLC12A3_ENST00000566786.1_Missense_Mutation_p.S709L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	710					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTTCTACTCGGATGTCATT	0.602000													8	50					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367885	142367885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142367885C>T	ENST00000377741.3	-	2	229	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	47						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGGAAGGTGCCATGCAGCTCC	0.657000													7	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063832	9063832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9063832G>A	ENST00000397910.4	-	3	23817	c.23614C>T	c.(23614-23616)Cca>Tca	p.P7872S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7874	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGGGACCTGGGATGGAGGTG	0.512000													19	57					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29195942	29195942	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:29195942G>A	ENST00000240100.2	-	3	1045	c.656C>T	c.(655-657)gCc>gTc	p.A219V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A128V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	219	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GATGCCCAGGGCGTCCAGCAT	0.557000													8	29					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122337852	122337852	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122337852G>A	ENST00000340112.2	-	1	1358	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	374						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCAAGGTGAAGGATGAACATC	0.413000													42	109					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64202232	64202232	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:64202232T>C	ENST00000262150.2	-	8	1619	c.1327A>G	c.(1327-1329)Aca>Gca	p.T443A	CDH19_ENST00000540086.1_Missense_Mutation_p.T443A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATTTTTCTGTGGCTGTAATA	0.328000													12	34					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559271	129559271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:129559271G>A	ENST00000422113.2	-	9	2775	c.2449C>T	c.(2449-2451)Cac>Tac	p.H817Y	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H355Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	817						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTTCCATGTGAACCCCTGCC	0.488000													22	95					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976112	94976112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:94976112G>A	ENST00000261226.4	-	2	412	c.281C>T	c.(280-282)gCg>gTg	p.A94V	TMCC3_ENST00000551457.1_Missense_Mutation_p.A63V	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CAGATACTCCGCAACATTCCC	0.453000													52	128					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436505	175436505	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:175436505G>A	ENST00000392547.2	-	5	1127	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	WIPF1_ENST00000409415.3_Missense_Mutation_p.S343L|WIPF1_ENST00000359761.3_Missense_Mutation_p.S343L|WIPF1_ENST00000272746.5_Missense_Mutation_p.S343L|WIPF1_ENST00000392546.2_Missense_Mutation_p.S343L|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.S343L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	343	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGCGTGGACGAACTGAGGGA	0.667000													16	55					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405383	70405383	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:70405383A>T	ENST00000373644.4	+	4	3106	c.2897A>T	c.(2896-2898)aAc>aTc	p.N966I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	966					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTTCATGCAACACGGTGGTT	0.408000													19	60					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349370	101349370	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:101349370C>T	ENST00000534062.1	-	1	1814	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	586										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGAAAGATCATCGGATCCG	0.562000													10	34					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799927	39799927	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:39799927C>T	ENST00000564288.1	+	37	8444	c.7667C>T	c.(7666-7668)tCc>tTc	p.S2556F	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S996F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2593F|MACF1_ENST00000372915.3_Missense_Mutation_p.S2561F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2561					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAATATTTCCCTCCCTAAA	0.368000													23	41					0	0	1	0	0
PAIP2B	400961	broad.mit.edu	37	2	71417122	71417122	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71417122G>A	ENST00000244221.8	-	3	334	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	56					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						AGCGGTCCAAGAAGTCTTGCT	0.527000													7	13					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314737	48314737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:48314737G>A	ENST00000435803.1	+	17	5498	c.5474G>A	c.(5473-5475)tGg>tAg	p.W1825*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1825					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTTGGTGCTGGAATCACACA	0.383000													4	20					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72537873	72537873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72537873G>A	ENST00000330793.1	-	4	890	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	177					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGAACAGGGAGCTGTGGGG	0.632000													6	17					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260213	28260213	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:28260213C>T	ENST00000305242.5	-	8	1058	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ARMC4_ENST00000239715.3_Silent_p.K179K|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000537576.1_Silent_p.K14K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	322							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GATCCTTTTCCTTTTGCTGGT	0.388000													13	34					0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878164	15878164	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:15878164G>A	ENST00000304222.2	+	2	839	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	169					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCTGCCTTGTGAAGTGTCTCT	0.478000													12	47					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100806	93100806	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:93100806C>T	ENST00000544406.2	+	2	665	c.399C>T	c.(397-399)ctC>ctT	p.L133L	C12orf74_ENST00000397833.3_Silent_p.L133L			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	133										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ACAAGTATCTCCCTCCTGAGC	0.582000													28	60					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459255	99459255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:99459255C>T	ENST00000354829.2	+	11	1149	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Missense_Mutation_p.A96V|CYP3A43_ENST00000415413.1_Missense_Mutation_p.A138V|CYP3A43_ENST00000222382.5_Missense_Mutation_p.A349V|CYP3A43_ENST00000342499.4_Missense_Mutation_p.A209V|CYP3A43_ENST00000417625.1_Missense_Mutation_p.A239V|CYP3A43_ENST00000312017.5_Missense_Mutation_p.A349V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	349			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCTACGATGCCCTGGTACAG	0.408000													10	22					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203412	56203412	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:56203412G>A	ENST00000361673.3	-	5	4220	c.4007C>T	c.(4006-4008)cCc>cTc	p.P1336L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1336							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGTCTGGGTTGGCTGAA	0.502000													38	71					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758583	5758583	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5758583G>A	ENST00000317121.3	+	1	903	c.837G>A	c.(835-837)ttG>ttA	p.L279L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCTACTTTGATTCCAGTTC	0.433000													111	169					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525310	112525310	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:112525310C>T	ENST00000369697.1	-	1	108	c.39G>A	c.(37-39)cgG>cgA	p.R13R	KCND3_ENST00000302127.4_Silent_p.R13R|KCND3_ENST00000315987.2_Silent_p.R13R			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	13	Interaction with KCNIP2 (By similarity).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGCCGCAGCCCGGGCAAAAG	0.672000													6	16					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027299	79027299	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:79027299C>T	ENST00000446378.2	+	2	2742	c.2711C>T	c.(2710-2712)tCa>tTa	p.S904L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	904						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGAATTTTCAGTACCACCA	0.438000													12	47					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37302206	37302206	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:37302206C>T	ENST00000336755.5	+	3	738	c.632C>T	c.(631-633)tCc>tTc	p.S211F	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	211							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATAAACTGGTCCATCAGTGAC	0.274000													22	59					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88977295	88977295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:88977295C>T	ENST00000237596.2	+	8	1840	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	PKD2_ENST00000502363.1_Nonsense_Mutation_p.R10*|PKD2_ENST00000508588.1_Nonsense_Mutation_p.R10*|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	592						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AACCATGTCTCGATGTGCCAA	0.408000													46	103					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858780	38858780	+	Silent	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:38858780A>T	ENST00000339659.3	+	5	1971	c.501A>T	c.(499-501)gcA>gcT	p.A167A	DYRK1A_ENST00000398960.2_Silent_p.A176A|DYRK1A_ENST00000398956.2_Silent_p.A176A|DYRK1A_ENST00000451934.1_Silent_p.A176A|DYRK1A_ENST00000338785.3_Silent_p.A176A|DYRK1A_ENST00000321219.8_Silent_p.A176A|DYRK1A_ENST00000462274.1_3'UTR	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	176	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTGTAAAGGCATATGATCGTG	0.308000													22	55					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52811720	52811720	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:52811720C>T	ENST00000273283.2	+	1	113	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ITIH1_ENST00000542827.1_Missense_Mutation_p.S30L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	30					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCTGGGCTCGGCTACAGGC	0.622000													14	31					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650914	142650914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142650914C>T	ENST00000355265.2	-	9	1528	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	352					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCAGCATCTCCTCCACCAGT	0.532000													107	311					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512410	167512410	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167512410G>A	ENST00000295777.5	+	5	1110	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E227K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	227					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTTTTTAGGGGAATTTAGTGA	0.398000													7	21					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109193724	109193724	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:109193724G>A	ENST00000370032.5	-	6	926	c.506C>T	c.(505-507)cCc>cTc	p.P169L	HENMT1_ENST00000402983.1_Missense_Mutation_p.P169L|HENMT1_ENST00000370031.1_Missense_Mutation_p.P169L|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	169					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGGAAACAGGGGATTGAATTC	0.413000													27	70					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156675946	156675946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156675946G>A	ENST00000422843.3	+	16	1872	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	574	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCAGTACCGGATTTCGGTT	0.498000			T	SYK	peripheral T-cell lymphoma								23	59					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110356	57110356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57110356G>A	ENST00000454682.1	-	3	5239	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGCTGGGGAAGTAGGGGA	0.547000			T	BCL6	NHL								10	45					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881147	64881147	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:64881147G>A	ENST00000533854.1	+	6	855	c.618G>A	c.(616-618)gcG>gcA	p.A206A	CACNG5_ENST00000307139.3_Silent_p.A206A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	206				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGTACACCGCGGAGGACATGT	0.612000													21	40					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183367	167183367	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167183367C>T	ENST00000476257.1	-	5	871	c.573G>A	c.(571-573)caG>caA	p.Q191Q	SERPINI2_ENST00000264677.4_Silent_p.Q191Q|SERPINI2_ENST00000471111.1_Silent_p.Q191Q|SERPINI2_ENST00000461846.1_Silent_p.Q191Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	191					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCTGAATTTCTGTTTCCAAT	0.363000													11	29					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23085073	23085073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:23085073G>A	ENST00000219689.7	-	14	2304	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	769					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GACCATGACGGGATGGCTGTC	0.527000													13	27					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547576	44547576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:44547576G>A	ENST00000260649.6	+	10	1932	c.1856G>A	c.(1855-1857)aGa>aAa	p.R619K	PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R250K|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R341K	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	619					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCTAAAATGAGAATAAGGTTA	0.408000													33	71					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968115	87968115	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:87968115C>T	ENST00000369577.3	+	8	4811	c.4768C>T	c.(4768-4770)Cct>Tct	p.P1590S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P1585S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGTTCATTTCCTAATTCTGG	0.378000													11	22					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21971127	21971127	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21971127G>A	ENST00000261200.4	-	30	3727	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	ABCC9_ENST00000261201.4_Missense_Mutation_p.S1243L|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1207L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1243	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCAGAATTCGAAGACCCACT	0.408000													29	79					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180838387	180838387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:180838387G>A	ENST00000410053.3	-	7	1023	c.724C>T	c.(724-726)Cga>Tga	p.R242*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.R242*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	242	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAGCCTTTTCGAAAATTAAGA	0.323000													5	19					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602495	18602495	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:18602495C>T	ENST00000546162.2	+	0	1069					NR_003569.1																						CTGAGCCCTTCCTACGGCAAG	0.577000													6	27					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735572	140735572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140735572C>T	ENST00000571252.1	+	1	805	c.805C>T	c.(805-807)Cca>Tca	p.P269S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACTGATCCAGATGAAGG	0.468000													7	20					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436256	158436256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158436256G>A	ENST00000289451.2	+	1	985	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCAGCCCTACGAAGAACAATC	0.373000													37	53					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21139052	21139052	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21139052C>T	ENST00000261383.3	-	8	1163	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH3_ENST00000415178.1_Silent_p.V388V|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	388	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTCTGGATCACATCCCAAA	0.488000													38	114					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40121767	40121767	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:40121767A>G	ENST00000261435.6	+	9	2452	c.2036A>G	c.(2035-2037)gAa>gGa	p.E679G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	679						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAATTCTGGAAACTCCACAC	0.343000													21	44					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459216	148459216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:148459216C>T	ENST00000542281.1	+	4	840	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	AGTR1_ENST00000497524.1_Missense_Mutation_p.H132Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.H132Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.H132Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.H132Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.H132Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.H132Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.H132Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.H132Y	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	132					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGCTATTGTTCACCCAATGAA	0.483000													36	132					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638362	16638362	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16638362A>C	ENST00000443444.2	+	12	2917	c.2777A>C	c.(2776-2778)gAc>gCc	p.D926A	CCDC144A_ENST00000360524.8_Missense_Mutation_p.D926A|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D926A|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D926A|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D646A			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	926																	GCTGTACGTGACTGTGATCAA	0.388000													12	16					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087251	9087251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9087251C>T	ENST00000397910.4	-	1	4767	c.4564G>A	c.(4564-4566)Gga>Aga	p.G1522R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1522	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCTGATTCCTAGGTGCTGA	0.458000													56	128					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992721	67992721	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:67992721C>T	ENST00000397942.3	+	2	1133	c.817C>T	c.(817-819)Cta>Tta	p.L273L	SOCS6_ENST00000582322.1_Silent_p.L273L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	273					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AGACCAGGACCTAGTTGTCGC	0.572000													39	90					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159961	8159961	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:8159961C>T	ENST00000314666.6	+	8	1074	c.941C>T	c.(940-942)cCc>cTc	p.P314L	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	314					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAACTTTCCCACAGGTGAG	0.567000													10	34					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171247945	171247945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:171247945C>T	ENST00000354841.4	+	4	693	c.562C>T	c.(562-564)Ctt>Ttt	p.L188F	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.L125F|FMO1_ENST00000367750.3_Missense_Mutation_p.L188F			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	188					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGAGAGTCCTTGTGATTGG	0.418000													36	42					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43411107C>T	ENST00000187910.2	-	5	1272	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG6_ENST00000402603.4_Missense_Mutation_p.E310K|PSG6_ENST00000292125.2_Missense_Mutation_p.E403K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGGAGATTTCCTTGCCAGTG	0.448000													117	260					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324053	25324053	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:25324053C>T	ENST00000549804.2	+	0	1288																											AAGGGATAAACTTCATCTTGG	0.532000													5	12					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:99567893C>T	ENST00000331335.5	-	5	3097	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.G636E|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.G452E|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.G876E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.G636E	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000													46	170					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63850793	63850793	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:63850793C>T	ENST00000279873.7	+	10	1981	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	ARID5B_ENST00000309334.5_Missense_Mutation_p.S281F	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	524					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCAAGGTTCCAACAGTGAG	0.532000													19	57					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61079480	61079480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:61079480G>A	ENST00000301764.7	-	17	2543	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	716	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATAGAGGGGAACTGTGCGA	0.542000								Nucleotide excision repair (NER)					45	68					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135286957	135286957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:135286957G>A	ENST00000274507.1	-	3	444	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	LECT2_ENST00000512872.1_Nonsense_Mutation_p.Q10*|LECT2_ENST00000522943.1_Nonsense_Mutation_p.Q82*|LECT2_ENST00000514447.2_Nonsense_Mutation_p.Q82*|LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	82					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTTGTTTTGATAAGGTTTC	0.478000													23	53					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364205	142364205	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142364205G>A	ENST00000390397.2	+	0	8																											TCCAGAGCTGGAAACACCTCC	0.512000													7	19					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731966	96731966	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96731966G>T	ENST00000260682.6	+	6	937	c.925G>T	c.(925-927)Gct>Tct	p.A309S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	309					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTGAGATATGCTCTCCTTCT	0.428000													40	128					6.5261e-18	6.64249e-18	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111427086	111427086	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:111427086C>T	ENST00000393934.3	+	2	1047	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PLCXD2_ENST00000477665.1_Silent_p.F159F	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	159	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGATTATCTTCCTGGATTTCA	0.502000													40	87					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537394	55537394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55537394G>A	ENST00000220676.1	+	4	1100	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	318					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTGAAGATGATATTGAGAA	0.308000													8	26					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008291	120008291	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:120008291C>T	ENST00000341846.5	-	1	870	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	150					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTAGCTGTTCCGCCGGGTCTC	0.642000													41	59					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128456	51128456	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51128456G>A	ENST00000338916.4	-	7	2303	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	SYT3_ENST00000593901.1_Missense_Mutation_p.P557L|SYT3_ENST00000544769.1_Missense_Mutation_p.P557L|SYT3_ENST00000600079.1_Missense_Mutation_p.P557L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	557						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCTTGCGGGGATTGGCCAG	0.682000													3	3					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263889	140263889	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140263889C>T	ENST00000289272.2	+	1	2036	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S679L|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_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)			CCACAGGCTTCGTCGAGGGCG	0.647000													19	63					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368983	22368983	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22368983G>A	ENST00000332663.2	+	1	506	c.408G>A	c.(406-408)atG>atA	p.M136I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTACCATCATGAATCAACGTC	0.507000													64	277					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024537	55024537	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:55024537C>T	ENST00000324000.3	+	3	2730	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	232					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACAACTTTTTCCTCAGTTTAA	0.403000													23	73					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118796	29118796	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:29118796T>C	ENST00000261590.8	+	12	1943	c.1734T>C	c.(1732-1734)ttT>ttC	p.F578F		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	578					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATCAGGGTTTTAGTTGTCCTG	0.498000													25	65					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120935521	120935521	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:120935521T>G	ENST00000310396.5	+	23	3363	c.2896T>G	c.(2896-2898)Tat>Gat	p.Y966D		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCCAAAGAATATAACTTTAT	0.318000													7	26					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405643	241405643	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241405643C>T	ENST00000264039.2	+	9	1861	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	538					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCCAGCCCCCGACCTTCCTC	0.677000													21	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086706	9086706	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9086706G>A	ENST00000397910.4	-	1	5312	c.5109C>T	c.(5107-5109)gtC>gtT	p.V1703V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1703	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCAGAAAGGACAGAGGAAA	0.488000													35	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438953	179438953	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179438953C>G	ENST00000589042.1	-	326	72130	c.71906G>C	c.(71905-71907)gGa>gCa	p.G23969A	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15029A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22328A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14904A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21401A|TTN_ENST00000342175.6_Missense_Mutation_p.G15096A|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22328	Fibronectin type-III 74.						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)			CAGCCACCGTCCATTAGGAAG	0.413000													7	40					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019154	55019154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55019154C>T	ENST00000301202.2	+	3	241	c.119C>T	c.(118-120)tCc>tTc	p.S40F	LAIR2_ENST00000351841.2_Missense_Mutation_p.S40F	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	40	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTGTGATCTCCCCGGGGAGC	0.557000													33	125					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928662	35928662	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:35928662G>A	ENST00000490799.1	-	14	1949	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC26A8_ENST00000355574.2_Silent_p.I532I|SLC26A8_ENST00000394602.2_Silent_p.I427I	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	532					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGTTAGGGATTTGACCCA	0.453000													33	96					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170967493	170967493	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:170967493C>T	ENST00000367758.3	+	15	1773	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9																		TCCAGTTTCTCGTATCTCTCC	0.388000													32	42					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829217	35829217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:35829217G>A	ENST00000085219.5	+	6	1198	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Missense_Mutation_p.E258K|CD22_ENST00000419549.2_Missense_Mutation_p.E206K|CD22_ENST00000544992.2_Missense_Mutation_p.E378K|CD22_ENST00000341773.6_Intron|CD22_ENST00000536635.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	378	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGGAAGGACAGAGGAGAAAGT	0.517000													23	62					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56351925	56351925	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:56351925G>A	ENST00000370754.5	-	87	20930	c.20931C>T	c.(20929-20931)acC>acT	p.T6977T	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Silent_p.T6688T|DST_ENST00000370769.4_Silent_p.T6799T|DST_ENST00000244364.6_Silent_p.T4385T|DST_ENST00000446842.2_Silent_p.T6473T|DST_ENST00000421834.2_Silent_p.T4711T|DST_ENST00000370788.2_Silent_p.T4602T			Q03001	DYST_HUMAN	dystonin	6797					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCACATATGGTATCCCATT	0.438000													15	37					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117700239	117700239	+	Silent	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:117700239A>T	ENST00000368508.3	-	17	2778	c.2580T>A	c.(2578-2580)gcT>gcA	p.A860A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.A855A	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	860					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCGAAGAACAGCTGTGTACA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								6	26					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789789	248789789	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248789789G>A	ENST00000330803.2	-	1	702	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGAGTAGGAAGTGGAGAT	0.493000													43	48					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108006	46108006	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:46108006A>G	ENST00000321037.4	+	2	916	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	229						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTATGGGAAAATCTTAATGTG	0.393000													32	55					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030944	56030944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:56030944C>T	ENST00000309675.2	+	1	301	c.269C>T	c.(268-270)cCc>cTc	p.P90L		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCCCGCATCCCCAGGCCATC	0.602000													23	68					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130289789	130289789	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:130289789G>A	ENST00000358511.6	+	6	2560	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	COL6A6_ENST00000453409.2_Silent_p.K843K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	843	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGTGGGCAAGAATCAGGTCC	0.418000													5	34					0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1656720	1656720	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:1656720G>A	ENST00000308132.6	-	4	1059	c.867C>T	c.(865-867)ttC>ttT	p.F289F	FAM53A_ENST00000472884.2_Silent_p.F289F|FAM53A_ENST00000461064.1_Silent_p.F289F|FAM53A_ENST00000489363.1_Silent_p.F289F	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	289						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCATTTTCAGGAAGTCCAAGG	0.617000													7	34					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232227	110232227	+	Silent	SNP	G	G	A	rs146929022		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:110232227G>A	ENST00000418703.2	-	7	1492	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	TRPV4_ENST00000346520.2_Silent_p.F406F|TRPV4_ENST00000544971.1_Silent_p.F359F|TRPV4_ENST00000541794.1_Silent_p.F419F|TRPV4_ENST00000537083.1_Silent_p.F406F|TRPV4_ENST00000536838.1_Silent_p.F432F|TRPV4_ENST00000392719.2_Silent_p.F419F|TRPV4_ENST00000261740.2_Silent_p.F466F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	466					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACGGCCCCGAACTTGCGCC	0.602000													31	69					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92965055	92965055	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:92965055G>A	ENST00000538690.1	+	5	1198	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FAM133A_ENST00000355813.5_Missense_Mutation_p.E213K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E213K|FAM133A_ENST00000332647.4_Missense_Mutation_p.E213K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	213	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GAGAAGGTGTGAAGAGCGAGA	0.358000													9	16					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113386869	113386869	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113386869C>T	ENST00000228928.7	+	6	1412	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	411	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGTCTCAGATCCCCACCAAGG	0.627000													14	27					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806678	143806678	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143806678G>A	ENST00000408979.2	+	1	72	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACAAGAGCATGGAAGGCAACC	0.502000													26	65					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6837298	6837298	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:6837298G>A	ENST00000262227.3	+	3	3483	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R143Q|ARHGAP28_ENST00000314319.3_5'UTR|ARHGAP28_ENST00000419673.2_5'UTR|ARHGAP28_ENST00000418986.1_5'UTR|ARHGAP28_ENST00000531294.1_5'UTR|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R143Q			B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACATTGACTCGAACCCAAGCA	0.453000													10	23					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048181	105048181	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:105048181C>T	ENST00000369849.4	+	3	1304	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	419	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGGCTGAATCCACTTCCCAA	0.473000													37	98					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692813	20692813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20692813G>A	ENST00000315519.2	+	1	1023	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M315I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACAAAGACATGAAAGATGCTC	0.393000													18	83					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348803	103348803	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:103348803G>A	ENST00000358392.2	-	64	5276	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	COL11A1_ENST00000370096.3_Silent_p.F1641F|COL11A1_ENST00000353414.4_Silent_p.F1602F|COL11A1_ENST00000512756.1_Silent_p.F1525F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1641	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACCAGATGTGAAATTACAGT	0.368000													29	66					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555823	101555823	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:101555823G>A	ENST00000536262.2	-	13	2117	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	520					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTACAGATATGATAAAGAATA	0.358000													30	118					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865330	57865330	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57865330T>C	ENST00000228682.2	+	12	2898	c.2807T>C	c.(2806-2808)gTt>gCt	p.V936A	GLI1_ENST00000546141.1_Missense_Mutation_p.V895A|GLI1_ENST00000543426.1_Missense_Mutation_p.V808A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	936					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGTTCCCAGGTTAGCCCAAGC	0.572000													21	61					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240482	39240482	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39240482C>T	ENST00000391417.4	+	1	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTTGTGGCTCCGTGTGCTCTG	0.592000													3	24					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391789	125391789	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:125391789G>A	ENST00000304833.3	-	1	63	c.26C>T	c.(25-27)tCa>tTa	p.S9L	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CGGAGAGTGTGAAGCATTAGG	0.463000													33	25					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851570	63851570	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:63851570C>T	ENST00000279873.7	+	10	2758	c.2348C>T	c.(2347-2349)cCc>cTc	p.P783L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P540L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	783					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGATCAGATCCCCACCGCTGC	0.478000													36	116					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416204	86416204	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:86416204A>T	ENST00000361669.2	+	3	2195	c.1096A>T	c.(1096-1098)Aaa>Taa	p.K366*	GRM3_ENST00000394720.2_Nonsense_Mutation_p.K364*|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.K238*|GRM3_ENST00000439827.1_Nonsense_Mutation_p.K366*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	366					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCTCCAGAACAAACGCAACCA	0.562000													13	51					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834702	61834702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:61834702G>A	ENST00000370339.3	-	4	931	c.590C>T	c.(589-591)tCc>tTc	p.S197F	YTHDF1_ENST00000370333.4_Missense_Mutation_p.S147F|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	197										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACGGCGGAGGAGCTGACGTC	0.602000													10	34					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812989	14812989	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:14812989C>T	ENST00000380881.4	-	17	3532	c.2717G>A	c.(2716-2718)gGa>gAa	p.G906E	FREM1_ENST00000380880.3_Missense_Mutation_p.G905E|FREM1_ENST00000422223.2_Missense_Mutation_p.G905E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	905					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)		GACCACCTCTCCTCCCTCTGA	0.463000													48	118					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368577	111368577	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:111368577C>T	ENST00000352690.4	+	14	1874	c.1634C>T	c.(1633-1635)cCa>cTa	p.P545L	CD96_ENST00000283285.5_Missense_Mutation_p.P561L	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	561					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGCCACCACCACCTCCCATC	0.468000									Opitz Trigonocephaly syndrome				38	87					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373416	56373416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56373416C>T	ENST00000301295.6	+	5	2499	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	693							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCTTTTATCAGCCAGACTT	0.433000													31	83					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156773469	156773469	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:156773469C>T	ENST00000537611.2	-	4	632		c.e4-1			NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5							integral to membrane|plasma membrane											GTGCAAAATCCTCCAATATGT	0.318000													12	34					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068846	9068846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9068846C>T	ENST00000397910.4	-	3	18803	c.18600G>A	c.(18598-18600)atG>atA	p.M6200I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6202	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATCATTGTTCATGACACTGG	0.473000													26	63					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45801439	45801439	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:45801439G>A	ENST00000327619.5	+	12	1496	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	EYA2_ENST00000357410.3_Silent_p.V374V|EYA2_ENST00000317304.6_Silent_p.V344V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	374					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACGGCGGCGTGGACTGGATGA	0.607000													23	73					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327865	42327865	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42327865T>G	ENST00000262418.6	-	20	2852	c.2697A>C	c.(2695-2697)gaA>gaC	p.E899D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	899	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCCCGACCTTCCTCCTCAT	0.607000													14	33					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348542	140348542	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140348542T>G	ENST00000289269.5	+	1	2723	c.2191T>G	c.(2191-2193)Tgc>Ggc	p.C731G	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		731					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCATCAAGTGCTACCGCTA	0.418000													16	53					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303134	151303134	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:151303134C>T	ENST00000370323.4	-	4	1275	c.959G>A	c.(958-960)gGg>gAg	p.G320E	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.G320E	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	320	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATCACTCCCATTTACCTT	0.493000													53	105					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047475	160047475	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:160047475G>A	ENST00000327245.5	-	15	3141	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	765					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGTCAAAGCCCAGGGTGC	0.582000													13	22					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109052816	109052816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:109052816C>T	ENST00000335658.6	-	2	133	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	27						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATCCTCTTCCCTCGACTTC	0.458000													27	60					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232595	71232595	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71232595C>T	ENST00000226460.4	+	3	385	c.289C>T	c.(289-291)Cct>Tct	p.P97S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	97	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTCCTCCTCCTTATGGCCC	0.547000													42	138					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080209	70080209	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70080209G>A	ENST00000446444.1	-	1	240	c.232C>T	c.(232-234)Cct>Tct	p.P78S	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	78					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAGATGTAGGATAAACTTCA	0.358000													40	107					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000804	142000804	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142000804C>T	ENST00000455382.2	+	0	58																											AGGCCTCATTCCTGCTGTGAT	0.512000													17	41					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:24324357G>A	ENST00000175238.6	+	6	518	c.435G>A	c.(433-435)gtG>gtA	p.V145V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.V145V|ADAM7_ENST00000380789.1_Silent_p.V145V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	145					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGAACCAGTGAAATACTCAG	0.368000													14	66					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695621	196695621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196695621C>T	ENST00000367429.4	+	13	2135	c.1895C>T	c.(1894-1896)cCa>cTa	p.P632L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	632	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCATGTGGTCCACCTCCTGAA	0.313000													16	46					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855093	65855093	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:65855093T>G	ENST00000395325.3	+	10	1334	c.1177T>G	c.(1177-1179)Tct>Gct	p.S393A	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S380A|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S450A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	393					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CATCCTCTTCTCTTCTCACCA	0.433000													26	63					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050876	8050876	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:8050876C>T	ENST00000607111.1	+	0	279																				kidney(1)|lung(4)|prostate(1)	6						gacctggttccagaaccagag	0.363000													6	14					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	15994426	15994426	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:15994426C>A	ENST00000352083.6	-	16	2493	c.2416G>T	c.(2416-2418)Gac>Tac	p.D806Y	SOX6_ENST00000528252.1_Missense_Mutation_p.D779Y|SOX6_ENST00000527619.1_Missense_Mutation_p.D782Y|SOX6_ENST00000396356.3_Missense_Mutation_p.D786Y|SOX6_ENST00000316399.6_Missense_Mutation_p.D786Y|SOX6_ENST00000528429.1_Missense_Mutation_p.D806Y			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	806					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAGTCATCATACATT	0.443000													23	55					1.10513e-12	1.12198e-12	1	1	0
NTN5	126147	broad.mit.edu	37	19	49173836	49173836	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49173836G>A	ENST00000270235.4	-	2	503	c.408C>T	c.(406-408)agC>agT	p.S136S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	136						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CACGGAGGTGGCTGGCCGCCA	0.711000													2	2					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12359324	12359324	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12359324C>T	ENST00000358136.3	+	25	6229	c.6099C>T	c.(6097-6099)ctC>ctT	p.L2033L	VPS13D_ENST00000356315.4_Silent_p.L2033L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2033					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCCCGTTCTCTTGATCCCAG	0.443000													31	39					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554658	19554658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:19554658G>A	ENST00000328405.2	+	13	2542	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	759						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTGGCCTCGGGAACGGTGCCC	0.502000													26	67					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40693049	40693049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:40693049G>A	ENST00000298910.7	+	25	3544	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	LRRK2_ENST00000343742.2_Missense_Mutation_p.M1162I	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1162					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGCCAGAATGAATTTTCTTG	0.398000													42	115					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:42021428C>T	ENST00000219905.7	+	11	3905	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1242						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1242*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGCTCGAGTTCGAGTATATGA	0.413000													9	19					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704323	47704323	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:47704323C>T	ENST00000397708.1	-	2	1132	c.878G>A	c.(877-879)aGg>aAg	p.R293K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R293K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCTCCTTCCTTTTCAGTCC	0.567000													39	118					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156536	6156536	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:6156536G>A	ENST00000588304.1	+	5	777	c.331G>A	c.(331-333)Gat>Aat	p.D111N	ACSBG2_ENST00000591403.1_Missense_Mutation_p.D161N|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000586696.1_Missense_Mutation_p.D161N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.D161N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	161					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTGAGAATGATCAACAGTT	0.483000													38	112					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968723	62968723	+	RNA	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:62968723C>A	ENST00000430983.1	-	0	1521					NR_026903.1																						CATTGTTATTCCCACAACACA	0.353000													34	76					1.45844e-13	1.4835e-13	1	1	0
SLC6A1	6529	broad.mit.edu	37	3	11067256	11067256	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11067256T>G	ENST00000287766.4	+	8	1257	c.836T>G	c.(835-837)cTg>cGg	p.L279R	SLC6A1_ENST00000536032.1_Missense_Mutation_p.L101R	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	279					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCCGCAAGCTGTCTGACTCC	0.552000													8	22					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784973	152784973	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152784973C>T	ENST00000360090.3	+	1	527	c.51C>T	c.(49-51)atC>atT	p.I17I		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	17	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ccaagtgcatccccaagtgcc	0.602000													49	122					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:47170749G>A	ENST00000447411.1	-	12	1318	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S371F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	371					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCCGTGATGGAAATATTTGA	0.398000													24	57					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133337	119133337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:119133337C>T	ENST00000264245.4	+	12	3093	c.2561C>T	c.(2560-2562)tCt>tTt	p.S854F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	854					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATGCTGCTTCTGAGGGGAAA	0.517000													15	36					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202337	103202337	+	Silent	SNP	C	C	T	rs139102992		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:103202337C>T	ENST00000428762.1	-	35	5433	c.5274G>A	c.(5272-5274)gcG>gcA	p.A1758A	RELN_ENST00000424685.2_Silent_p.A1758A|RELN_ENST00000343529.5_Silent_p.A1758A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1758					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTATCAATCGCCCAGGAAT	0.468000													11	50					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_ENST00000539698.3_Silent_p.I200I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													15	40					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139838968	139838968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:139838968G>A	ENST00000397560.2	-	2	314	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	JHDM1D_ENST00000006967.5_Missense_Mutation_p.H73Y	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		73					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAACAGCATGATGTTCTTCT	0.358000													32	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077049	9077049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9077049G>A	ENST00000397910.4	-	3	10600	c.10397C>T	c.(10396-10398)tCt>tTt	p.S3466F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3467	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGTCTCCAGAGGGCAGAGA	0.498000													12	38					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94852863	94852863	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:94852863G>A	ENST00000358746.2	-	21	2576	c.2278C>T	c.(2278-2280)Cac>Tac	p.H760Y		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	760							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTCCAAGGTGGAGGAGCTCA	0.353000													19	36					0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995692	21995692	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21995692C>T	ENST00000286143.6	-	5	826	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PDZD9_ENST00000424898.2_Missense_Mutation_p.E231K|PDZD9_ENST00000537222.2_Missense_Mutation_p.E171K			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	231										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GAAGAGCTTTCATTGTCTTGC	0.453000													78	255					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226923	115226923	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:115226923C>T	ENST00000369538.3	-	4	578	c.531G>A	c.(529-531)gaG>gaA	p.E177E	AMPD1_ENST00000353928.6_Silent_p.E148E|AMPD1_ENST00000520113.2_Silent_p.E181E	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	148					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCATGTATTTCTCACGTATGC	0.408000													22	46					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14175300	14175300	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:14175300C>T	ENST00000306077.4	+	7	828	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	192						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CAGGTTTTTCCTCTCGTCAGG	0.587000													39	101					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739037	3739037	+	Silent	SNP	C	C	T	rs138259541	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3739037C>T	ENST00000541714.2	+	13	1998	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	TJP3_ENST00000589378.1_Silent_p.P521P|TJP3_ENST00000382008.3_Silent_p.P526P|TJP3_ENST00000539908.2_Silent_p.P476P|TJP3_ENST00000587686.1_Silent_p.P531P|TJP3_ENST00000262968.9_Silent_p.P545P	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	526	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGGCCCCGGGCAGAGCC	0.682000													17	43					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147193	26147193	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:26147193G>A	ENST00000331351.5	+	2	1387	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGCCATTCGAATAGGGATC	0.552000													62	162					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005692	40005692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40005692G>A	ENST00000350221.3	-	10	1350	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	381										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTCTCAGCCGATTATGCAGA	0.338000													48	142					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170366384	170366384	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170366384C>T	ENST00000284669.1	+	1	173	c.96C>T	c.(94-96)ttC>ttT	p.F32F	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		AGAAAAAATTCATCGATTGCA	0.433000													35	120					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43584942	43584942	+	Missense_Mutation	SNP	C	C	T	rs139097536		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:43584942C>T	ENST00000452443.2	-	3	408	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	135					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GATGAAAGTTCCCAGCGGGTA	0.478000													48	107					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402699	124402699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:124402699C>T	ENST00000368909.3	+	53	7133	c.7027C>T	c.(7027-7029)Cgg>Tgg	p.R2343W	DMBT1_ENST00000368955.3_Missense_Mutation_p.R2333W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1715W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1715W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1063W|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2343W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2333W	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2343	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R2343W(1)|p.R2472W(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCCCGCTTCCGGTTCAGGGC	0.587000													35	56					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437076	201437076	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:201437076C>T	ENST00000357799.4	+	7	2105	c.2007C>T	c.(2005-2007)atC>atT	p.I669I		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	669					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGCTTCAAATCCCAGCTCTTT	0.378000													20	64					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424552	56424552	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56424552C>T	ENST00000588751.1	-	5	655	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E211K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	211							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTCATGTTCGTCCTTTGAT	0.493000													40	117					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352358	10352358	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10352358C>T	ENST00000255381.2	-	31	4298	c.4188G>A	c.(4186-4188)aaG>aaA	p.K1396K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1396					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						GCTGGGCTAGCTTCTTCCTGA	0.453000													5	27					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464579	17464579	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:17464579T>C	ENST00000380647.3	+	21	3573	c.3489T>C	c.(3487-3489)agT>agC	p.S1163S	CNTLN_ENST00000425824.1_Silent_p.S1163S|CNTLN_ENST00000262360.5_Silent_p.S1163S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1163						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTTGGAAAGTAACAAGAGTT	0.284000													29	38					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35178764	35178764	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:35178764T>C	ENST00000156471.5	-	25	3005	c.2780A>G	c.(2779-2781)tAt>tGt	p.Y927C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	927						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCACAGGTATATGAGGCATC	0.383000													34	58					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33152008	33152008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:33152008C>T	ENST00000341947.2	-	8	1260	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	COL11A2_ENST00000357486.1_Missense_Mutation_p.D324N|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.D298N|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.D319N|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	345	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TAGGTGTAATCGTAGGGCCCT	0.597000													19	61					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839744	19839744	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:19839744G>A	ENST00000405640.1	-	2	709	c.41C>T	c.(40-42)cCc>cTc	p.P14L	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.P14L|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P14L|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	14										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGCCCAGATGGGAATGCGAGG	0.637000													31	78					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345009	43345009	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:43345009G>A	ENST00000344686.2	-	0	2195				MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGGCCCTGGGGCCCTTGGCGA	0.602000													36	66					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498219	106498219	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:106498219C>T	ENST00000233154.4	+	4	1104	c.662C>T	c.(661-663)aCc>aTc	p.T221I	NCK2_ENST00000393349.2_Missense_Mutation_p.T221I|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	221	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						AAGGGGGAGACCATGGAGGTG	0.607000													16	47					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512783	70512783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70512783G>A	ENST00000503640.1	-	1	635	c.580C>T	c.(580-582)Cct>Tct	p.P194S	UGT2A1_ENST00000286604.4_Missense_Mutation_p.P194S|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P194S|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P194S	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	194					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAAACAGCAGGAACATAGGAA	0.408000													19	57					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140076234	140076234	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:140076234A>G	ENST00000323927.2	-	7	1371	c.1367T>C	c.(1366-1368)cTg>cCg	p.L456P		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	456					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGTCTTGGACAGCTCAACAGC	0.662000													9	9					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434800	118434800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:118434800G>A	ENST00000369209.3	-	12	1624	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	507							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CACGTCCTGGGGGATGATGAT	0.667000													10	28					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30001110	30001110	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:30001110T>G	ENST00000279394.3	+	17	2832	c.2429T>G	c.(2428-2430)aTg>aGg	p.M810R		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	689	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCTCAGAGATGCTCAGCTCA	0.592000													12	21					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463915	12463915	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:12463915A>C	ENST00000242804.4	-	4	674	c.92T>G	c.(91-93)tTt>tGt	p.F31C	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CACATCCTCAAAGGCTACTGA	0.448000													30	91					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275427	29275427	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29275427C>G	ENST00000377160.2	+	1	1025	c.961C>G	c.(961-963)Ctc>Gtc	p.L321V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						catgtttaaactctgaagaac	0.383000													11	46					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12198955	12198955	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:12198955C>T	ENST00000379033.3	+	7	747	c.600C>T	c.(598-600)acC>acT	p.T200T	SEC61A2_ENST00000304267.8_Silent_p.T222T|SEC61A2_ENST00000298428.9_Silent_p.T222T|SEC61A2_ENST00000379020.4_Silent_p.T222T|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	222						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TGTTGGCCACCAGGACGGACA	0.468000													37	91					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486133	118486133	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:118486133C>T	ENST00000349139.4	+	11	1259	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	404						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTCAGCCTGTCAGGACAAGCA	0.478000													28	58					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301138	11301138	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11301138C>T	ENST00000397056.1	+	3	606	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	HRH1_ENST00000431010.2_Missense_Mutation_p.R139C|HRH1_ENST00000438284.2_Missense_Mutation_p.R139C	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTTAAGTATCGTACCAAGAC	0.532000													40	129					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140967032	140967032	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:140967032G>A	ENST00000298296.1	+	3	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	110										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGAGGGGAAGTTTTCTC	0.562000													9	5					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:44508548C>T	ENST00000260649.6	+	3	709	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_ENST00000410056.3_Silent_p.F211F|SLC3A1_ENST00000409741.1_Silent_p.F211F|SLC3A1_ENST00000409387.1_Silent_p.F211F|SLC3A1_ENST00000409229.3_Silent_p.F211F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000													20	37					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625898	54625898	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54625898G>A	ENST00000321030.4	+	5	694	c.345G>A	c.(343-345)cgG>cgA	p.R115R	PRPF31_ENST00000391755.1_Silent_p.R115R|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.R115R	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	115					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGTTCATCCGGGATAAGTACT	0.537000													60	150					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728627	51728627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51728627G>A	ENST00000262262.4	+	2	212	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CD33_ENST00000391796.3_Missense_Mutation_p.G64E|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	64	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTCCGGGAAGGAGCCATTATA	0.537000													42	116					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405384	70405384	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:70405384C>T	ENST00000373644.4	+	4	3107	c.2898C>T	c.(2896-2898)aaC>aaT	p.N966N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	966					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTCATGCAACACGGTGGTTT	0.408000													17	60					0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51394183	51394183	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:51394183C>G	ENST00000394904.3	-	6	585	c.536G>C	c.(535-537)tGg>tCg	p.W179S	SLC11A2_ENST00000541174.2_Missense_Mutation_p.W150S|SLC11A2_ENST00000547688.1_Missense_Mutation_p.W179S|SLC11A2_ENST00000262051.7_Missense_Mutation_p.W150S|SLC11A2_ENST00000545993.2_Missense_Mutation_p.W146S|SLC11A2_ENST00000262052.5_Missense_Mutation_p.W150S|SLC11A2_ENST00000546743.1_Missense_Mutation_p.W71S|SLC11A2_ENST00000547198.1_Missense_Mutation_p.W150S	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	150					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACCATCAGCCACAGGATGAC	0.428000													12	36					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72357938	72357938	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72357938G>A	ENST00000375366.3	-	1	147	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	7						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						ACCCAGGCTTGGAGTAGCCTC	0.627000													10	24					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250809	10250809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:10250809G>A	ENST00000340748.4	-	32	3906	c.3671C>T	c.(3670-3672)cCg>cTg	p.P1224L	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1240L|DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1224L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1224	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTGGCAGGGCGGCCCGCCGCA	0.607000													14	51					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673115	186673115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:186673115G>A	ENST00000343098.5	+	17	19349	c.19349G>A	c.(19348-19350)aGg>aAg	p.R6450K	FSIP2_ENST00000424728.1_Missense_Mutation_p.R6361K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACTAATAAGGTTGCCAAGT	0.348000													7	19					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057401	46057401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:46057401C>T	ENST00000380095.1	+	1	129	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	23						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGTCGACTGCCCAGAGAGCTG	0.682000													32	46					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552784	95552784	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:95552784G>A	ENST00000568768.1	-	0	476																											TCATAAAGACGAAGGATTATC	0.383000													15	20					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13948082	13948082	+	Missense_Mutation	SNP	G	G	A	rs149935102		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:13948082G>A	ENST00000382080.1	-	8	1524	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SGCZ_ENST00000421524.2_Missense_Mutation_p.S223L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	257					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGAGCTGGGTGAAGAAGATGA	0.418000													17	52					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021931	167021931	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:167021931T>A	ENST00000061240.2	+	21	3592	c.2945T>A	c.(2944-2946)tTa>tAa	p.L982*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.L1005*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	982	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTCAGTTTTAATTCATTTC	0.323000													24	61					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969873	241969873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241969873G>A	ENST00000310397.8	+	2	386	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	SNED1_ENST00000401884.1_Missense_Mutation_p.R129Q|SNED1_ENST00000342631.6_Missense_Mutation_p.R129Q|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.R129Q	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	129	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ATGCTGCGCCGAGCCACGGAG	0.632000													6	12					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595743	82595743	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82595743C>T	ENST00000423517.2	-	4	3698	c.3361G>A	c.(3361-3363)Gac>Aac	p.D1121N	PCLO_ENST00000333891.8_Missense_Mutation_p.D1121N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1060					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCGTATGTCTCCAAGCTGT	0.423000													17	68					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33851728	33851728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:33851728G>A	ENST00000246186.6	+	5	1037	c.952G>A	c.(952-954)Gat>Aat	p.D318N	MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	318					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCCAGGACGATCTCCAGGG	0.637000													7	22					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101816876	101816876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:101816876G>A	ENST00000375001.3	+	32	3392	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	990	Triple-helical region 6 (COL6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAGAGAAAGGATCCTGGGGT	0.428000													17	11					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248437021G>A	ENST00000318021.2	-	1	117	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000													29	115					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577350	109577350	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109577350C>T	ENST00000338432.7	+	2	259	c.140C>T	c.(139-141)cCc>cTc	p.P47L	ACACB_ENST00000377848.3_Missense_Mutation_p.P47L|ACACB_ENST00000377854.5_Missense_Mutation_p.P47L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	47					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCCAGGAGCCCTTTCCAGCC	0.552000													21	74					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132590527	132590527	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:132590527G>A	ENST00000372447.3	-	9	836	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	261										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GGTTAGGAGGGGACCCTGAGA	0.483000													47	33					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114181785	114181785	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:114181785G>A	ENST00000393081.1	+	16	1775	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	ACSL5_ENST00000433418.1_Missense_Mutation_p.E490K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E546K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E490K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E490K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E272K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	490					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGAATAATGAAGGAGAGGT	0.473000													16	52					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026057	32026057	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32026057G>C	ENST00000375244.3	-	22	7804	c.7603C>G	c.(7603-7605)Cct>Gct	p.P2535A	TNXB_ENST00000375247.2_Missense_Mutation_p.P2535A			P22105	TENX_HUMAN	tenascin XB	2595	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGAGTCAGGGGAGGATCCT	0.677000													11	30					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80617461	80617461	+	Missense_Mutation	SNP	C	C	T	rs138345050	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:80617461C>T	ENST00000571995.1	-	4	468	c.337G>A	c.(337-339)Gat>Aat	p.D113N	RAB40B_ENST00000538809.2_Missense_Mutation_p.D113N|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	113					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATACCTCATCGATCTCCTTA	0.562000													9	36					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616538	25616538	+	Silent	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:25616538T>A	ENST00000232165.3	-	6	1439	c.783A>T	c.(781-783)tcA>tcT	p.S261S	UBE3A_ENST00000428984.2_Silent_p.S241S|UBE3A_ENST00000397954.2_Silent_p.S264S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.S241S|UBE3A_ENST00000438097.1_Silent_p.S241S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	264					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CCACGTTAGGTGACAAATATA	0.363000													33	117					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124265909	124265909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:124265909G>A	ENST00000395571.3	-	3	2895	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S	ZHX1_ENST00000522655.1_Missense_Mutation_p.P760S|ZHX1_ENST00000297857.2_Missense_Mutation_p.P760S|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	760	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTCCTCTAGGCCGCCCACGC	0.463000													57	155					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601679	64601679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:64601679C>T	ENST00000498707.1	-	20	3323	c.2981G>A	c.(2980-2982)gGg>gAg	p.G994E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	994	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTTACATTCCCCTGAGCATTT	0.483000													47	168					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689178	49689178	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49689178G>A	ENST00000257860.4	+	1	1694	c.195G>A	c.(193-195)gcG>gcA	p.A65A	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	65	Head.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCCCCCGAGCGGGAGCGGGCG	0.716000													4	10					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275839	64275839	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:64275839C>T	ENST00000261891.3	-	2	212	c.207G>A	c.(205-207)gaG>gaA	p.E69E	DAPK2_ENST00000457488.1_Silent_p.E69E|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.E69E			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	69	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCTCGATCTCCTCCCGGCTCA	0.627000													19	41					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199457	96199457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:96199457C>T	ENST00000453304.1	-	4	895	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	UNC5C_ENST00000504962.1_Missense_Mutation_p.E183K|UNC5C_ENST00000506749.1_Missense_Mutation_p.E183K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	183	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTAAGACTTCCTGTTCCAAA	0.408000													12	48					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331509	83331509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83331509C>T	ENST00000261722.3	-	22	2920	c.2713G>A	c.(2713-2715)Ggc>Agc	p.G905S	AP3B2_ENST00000535359.1_Missense_Mutation_p.G924S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G873S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	905					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACATGCAGGCCCTTGATGGGG	0.582000													6	13					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360409	20360409	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20360409G>A	ENST00000396134.2	-	4	436	c.313C>T	c.(313-315)Cct>Tct	p.P105S	UMOD_ENST00000570689.1_Missense_Mutation_p.P72S|UMOD_ENST00000424589.1_Missense_Mutation_p.P105S|UMOD_ENST00000302509.4_Missense_Mutation_p.P72S|UMOD_ENST00000396138.4_Missense_Mutation_p.P121S|UMOD_ENST00000396142.2_Missense_Mutation_p.P72S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	72	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAGCTCCAGGAATGGCGCAC	0.652000													3	9					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837265	43837265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43837265G>A	ENST00000372781.3	+	2	1384	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	SEMG1_ENST00000244069.6_Missense_Mutation_p.D383N	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGAGCAGGAAGATGACAGTGA	0.398000													52	116					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51398015	51398015	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:51398015C>T	ENST00000266037.9	+	47	4981	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1653						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCTGGCATCCCATAGCCCC	0.537000													8	14					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837149	43837149	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43837149A>T	ENST00000372781.3	+	2	1268	c.1211A>T	c.(1210-1212)aAa>aTa	p.K404I	SEMG1_ENST00000244069.6_Missense_Mutation_p.K344I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAAAATGCAAAAGGAGAGTCT	0.433000													20	66					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164751193	164751193	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:164751193G>A	ENST00000264382.3	-	23	2617	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	852	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTAGAAACTGAAAATGTATA	0.269000										HNSCC(35;0.089)			3	16					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910933	52910933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52910933C>T	ENST00000252242.4	-	6	1566	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	392	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATCCGGTTCA	0.522000													35	120					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129946647	129946647	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:129946647G>A	ENST00000222482.4	+	7	640	c.612G>A	c.(610-612)agG>agA	p.R204R	CPA4_ENST00000445470.2_Silent_p.R171R|CPA4_ENST00000493259.1_Silent_p.R100R	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	204					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTACCAGAGGGATCCAGCTA	0.433000													23	45					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242034	24242034	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:24242034C>T	ENST00000256412.4	+	1	237	c.17C>T	c.(16-18)tCc>tTc	p.S6F	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	6					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CGTGGGATCTCCCAGCTACCT	0.458000													7	20					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66986043	66986043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:66986043C>T	ENST00000340001.4	-	30	4077	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q	ABCA9_ENST00000453985.2_Missense_Mutation_p.R1251Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1289Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATATTCCTTCCGTAGACAGCT	0.383000													29	80					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244974	6244974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6244974G>A	ENST00000265978.4	-	3	1001	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	FAM160A2_ENST00000449352.2_Missense_Mutation_p.R215C|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R215C	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	215					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGACAAGGCGAGAAAAGAGA	0.602000													38	74					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333778	35333778	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:35333778G>A	ENST00000278379.3	-	4	810	c.528C>T	c.(526-528)ttC>ttT	p.F176F	SLC1A2_ENST00000606205.1_Silent_p.F176F|SLC1A2_ENST00000395753.1_Silent_p.F167F|SLC1A2_ENST00000395750.1_Silent_p.F167F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	176					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGTTTTCAGGGAAGAGATTTC	0.478000													62	96					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21108820	21108820	+	Splice_Site	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21108820A>G	ENST00000261383.3	-	18	2520	c.2520_splice	c.e18-1	p.L841_splice	DNAH3_ENST00000415178.1_Splice_Site_p.L841_splice	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	841	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTATTGATCAACTGCAGGGCA	0.478000													24	50					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	372983	372983	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:372983G>A	ENST00000280886.6	-	31	3974	c.3887C>T	c.(3886-3888)tCg>tTg	p.S1296L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1296						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAACCGAACGAGGTGCTGAC	0.602000													7	28					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3842993	3842993	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3842993C>T	ENST00000428216.2	+	5	686	c.558C>T	c.(556-558)gcC>gcT	p.A186A	MAVS_ENST00000416600.2_Silent_p.A45A|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	186					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACCTGGCAGCCCTCAGCCCTC	0.587000													17	37					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3297027	3297027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:3297027C>T	ENST00000219596.1	-	5	1615	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MEFV_ENST00000541159.1_Missense_Mutation_p.E315K|MEFV_ENST00000536379.1_Missense_Mutation_p.E315K|MEFV_ENST00000339854.4_Missense_Mutation_p.E346K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	526					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCAGAAGTTCCCATTCTGAC	0.612000													19	52					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898372	12898372	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:12898372G>A	ENST00000338034.4	-	20	2055	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	ELAC2_ENST00000395962.2_Missense_Mutation_p.P587S|ELAC2_ENST00000426905.3_Missense_Mutation_p.P566S	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	606					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CATTTGGCAGGAATCATACTG	0.418000													52	130					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237292	140237292	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140237292C>T	ENST00000307360.5	+	1	1659	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.692000													22	54					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269466	34269466	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:34269466G>C	ENST00000346562.2	+	11	1931	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	NPAS3_ENST00000356141.4_Missense_Mutation_p.E651D|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638D|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656D|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCAAGACGGAGATCTCAGAAC	0.632000													21	33					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24987244	24987244	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:24987244C>T	ENST00000323848.9	+	10	1665	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	SRRM1_ENST00000374389.4_Silent_p.S445S|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Silent_p.S448S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	450	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAAGAGAATCCCCTTCACCAG	0.323000													11	65					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796397	42796397	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:42796397C>T	ENST00000314073.5	+	6	502	c.326C>T	c.(325-327)tCc>tTc	p.S109F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S109F					GLTSCR1-like																		CTTCAGAAATCCTTGCAAGAG	0.453000													47	87					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101598331	101598331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:101598331G>A	ENST00000536262.2	-	2	922	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	122					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTTAAATCGAAGTTCTAAA	0.303000													9	52					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:126336719G>A	ENST00000394329.3	+	5	6614	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_ENST00000335110.5_Missense_Mutation_p.E499K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2201	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCAATCAGGAATTTCGGAT	0.433000													31	119					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113795286	113795286	+	Missense_Mutation	SNP	G	G	A	rs61753266	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:113795286G>A	ENST00000375559.3	+	5	462	c.424G>A	c.(424-426)Gag>Aag	p.E142K	F10_ENST00000409306.1_Missense_Mutation_p.E142K|F10_ENST00000375551.3_Missense_Mutation_p.E142K	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	142	EGF-like 2.		E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCTGCCACGAGGAACAGAA	0.612000													15	22					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679905	44679905	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:44679905T>G	ENST00000590089.1	+	7	857	c.490T>G	c.(490-492)Ttt>Gtt	p.F164V	ZNF226_ENST00000337433.5_Missense_Mutation_p.F164V|ZNF226_ENST00000454662.2_Missense_Mutation_p.F164V|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GAATCCAGAGTTTCCTATCTT	0.373000													11	23					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676809	37676809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:37676809G>A	ENST00000532828.2	-	5	1881	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H489Y|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H132Y|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTTTCTGA	0.383000													23	69					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45826648	45826648	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:45826648G>A	ENST00000397928.1	+	19	3407	c.2962_splice	c.e19+1	p.G988_splice	TRPM2_ENST00000397932.2_Splice_Site_p.G988_splice|TRPM2_ENST00000300482.5_Splice_Site_p.G988_splice|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Splice_Site_p.G968_splice	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	988						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTACATCGACGGTAGGAGCCG	0.662000													5	4					0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3202495C>T	ENST00000380113.3	+	7	612	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_ENST00000455664.1_Silent_p.I123I|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Silent_p.I99I	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000													10	30					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163590	71163590	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71163590C>T	ENST00000393567.2	-	9	1330	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	HYDIN_ENST00000393550.2_Missense_Mutation_p.G394R|HYDIN_ENST00000288168.10_Missense_Mutation_p.G411R|HYDIN_ENST00000321489.5_Missense_Mutation_p.G394R|HYDIN_ENST00000541601.1_Missense_Mutation_p.G411R|HYDIN_ENST00000538248.1_Missense_Mutation_p.G421R|HYDIN_ENST00000448691.1_Missense_Mutation_p.G394R|HYDIN_ENST00000448089.2_Missense_Mutation_p.G394R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	394										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGCTGTCTCCCTGCACCAGC	0.458000													10	32					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31115633	31115633	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:31115633G>A	ENST00000597505.1	-	14	2081	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGCCACAGGATCGATGGCG	0.517000													15	42					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264272	61264272	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61264272A>C	ENST00000344731.5	+	8	953	c.851A>C	c.(850-852)cAc>cCc	p.H284P	SERPINB13_ENST00000269489.5_Missense_Mutation_p.H232P	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	284					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTGAATCTGCACTTGCCCCGG	0.478000													27	99					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177374	39177374	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:39177374T>A	ENST00000297668.6	-	6	941	c.868A>T	c.(868-870)Aaa>Taa	p.K290*	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.K290*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.K202*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.K290*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.K290*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	290	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAGTGTGTTTGTCCACGGTG	0.453000													33	72					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80863831	80863831	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:80863831C>T	ENST00000355528.4	+	20	1954	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	TBCD_ENST00000539345.2_Silent_p.S608S|TBCD_ENST00000397466.2_Silent_p.S222S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	608					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCTGCTGTCCATGACACTGA	0.577000													4	8					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196696058	196696058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196696058C>T	ENST00000367429.4	+	14	2464	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	742	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACCCAACTTCCCCAGTGTGT	0.308000													36	98					0	0	1	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215946	168215946	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:168215946C>T	ENST00000358576.4	-	0	635					NR_026844.1															lung(1)	1						GGTATGATTCCATTTCGTCAG	0.428000													10	28					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261664	39261664	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39261664C>T	ENST00000391415.1	+	1	81	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	8						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTTGTGGCTCCGTGTGCTCTG	0.612000													5	15					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													5	88					0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131357670	131357670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:131357670C>T	ENST00000543796.1	+	4	502	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	RAN_ENST00000254675.3_5'UTR|RAN_ENST00000392367.3_Nonsense_Mutation_p.Q82*|RAN_ENST00000541630.1_5'UTR|RAN_ENST00000392369.2_Nonsense_Mutation_p.Q82*			P62826	RAN_HUMAN	RAN, member RAS oncogene family	82					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CTATTATATCCAAGGTAGGCA	0.433000													28	77					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147736	27147736	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:27147736T>C	ENST00000396352.4	-	3	1329	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S	HOXA3_ENST00000317201.2_Missense_Mutation_p.N377S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	377					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGCCCGGAGTTGCTCATGGG	0.682000													4	18					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5691060	5691060	+	Missense_Mutation	SNP	G	G	A	rs145758016	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:5691060G>A	ENST00000310917.2	-	5	1021	c.290C>T	c.(289-291)tCg>tTg	p.S97L	EVC2_ENST00000344938.1_Missense_Mutation_p.S177L|EVC2_ENST00000344408.5_Missense_Mutation_p.S177L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	177						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTCACTCGACCCAGACAC	0.547000													14	31					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226808	149226808	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:149226808C>T	ENST00000407073.1	+	9	2293	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	MBD5_ENST00000404807.1_Silent_p.T432T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	432						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCTTCAACCTCCCTGTCCC	0.493000													42	65					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632084	156632084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:156632084C>T	ENST00000296518.7	+	6	976	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTGTTGTACTCCGTTCACATG	0.483000													38	81					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152573941	152573941	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:152573941G>T	ENST00000397345.3	-	10	1013	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	NEB_ENST00000172853.10_Missense_Mutation_p.Q271K|NEB_ENST00000409198.1_Missense_Mutation_p.Q271K|NEB_ENST00000604864.1_Missense_Mutation_p.Q271K|NEB_ENST00000427231.2_Missense_Mutation_p.Q271K|NEB_ENST00000603639.1_Missense_Mutation_p.Q271K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	271					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCTCACTTGATTGGTTACT	0.433000													7	31					0.000157383	0.000158175	1	1	0
IFNA10	3446	broad.mit.edu	37	9	21206580	21206580	+	Silent	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:21206580T>G	ENST00000357374.2	-	1	562	c.517A>C	c.(517-519)Aga>Cga	p.R173R		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	173					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GAGAGGGATCTCATGATTTCT	0.398000													130	358					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31008936	31008936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:31008936C>T	ENST00000215838.3	+	3	828	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	TCN2_ENST00000405742.3_Missense_Mutation_p.L108F|TCN2_ENST00000407817.3_Missense_Mutation_p.L112F			P20062	TCO2_HUMAN	transcobalamin II	112					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCTCGCTCTCAGAGCCAA	0.582000													15	40					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44279970	44279970	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:44279970G>A	ENST00000244571.4	-	2	276	c.274C>T	c.(274-276)Cca>Tca	p.P92S		NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	92					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCGCTTCGTGGATCCACGGTG	0.542000													8	36					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916481	72916481	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72916481G>A	ENST00000319642.1	-	2	632	c.450C>T	c.(448-450)tgC>tgT	p.C150C		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	150					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCTTGGCGCACTCGCGGA	0.672000													10	21					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225858	21225858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21225858C>T	ENST00000233242.1	-	29	12563	c.12436G>A	c.(12436-12438)Gac>Aac	p.D4146N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4146					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGCCTTGTCCTTCCACTCT	0.507000													33	101					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63982018	63982018	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:63982018G>A	ENST00000309683.6	-	4	1265	c.1114C>T	c.(1114-1116)Cat>Tat	p.H372Y		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTCCAGTATGAATTTTCTTA	0.353000													11	31					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597889	2597889	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:2597889C>T	ENST00000358864.1	+	16	2127	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	704						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTGCTCTTCCTCAGCCTCC	0.612000													17	44					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363446	56363446	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56363446G>A	ENST00000301295.6	+	0	422				NLRP4_ENST00000346986.5_De_novo_Start_InFrame	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCAGAAAAGATGGCAGCCT	0.383000													47	120					0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17133945	17133945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:17133945C>T	ENST00000324849.4	+	6	1356	c.682C>T	c.(682-684)Cct>Tct	p.P228S	VPS37A_ENST00000521829.1_Missense_Mutation_p.P203S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	228					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GCCAGATGTCCCTGATGCATT	0.328000													12	36					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:94088518G>A	ENST00000553484.1	+	31	5159	c.5005G>A	c.(5005-5007)Gaa>Aaa	p.E1669K	UNC79_ENST00000555664.1_Missense_Mutation_p.E1647K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1647K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1470K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000													35	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436049	179436049	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179436049C>T	ENST00000589042.1	-	326	75034	c.74810G>A	c.(74809-74811)gGa>gAa	p.G24937E	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15997E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23296E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15872E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22369E|TTN_ENST00000342175.6_Missense_Mutation_p.G16064E|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23296	Fibronectin type-III 81.						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)			GACTCTACTTCCTCCATCACT	0.438000													32	83					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668687	8668687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:8668687C>T	ENST00000270328.4	-	4	783	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E173K|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	173					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCCACTTTCCTCCGGGCTC	0.602000													13	33					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382101	135382101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:135382101G>A	ENST00000442011.2	+	4	537	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Missense_Mutation_p.E126K	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	126	FAS1 1.		Missing (associated with Leu-124 in atypical granular dystrophy; French granular variant).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCGCACGGAGAAGCTGAG	0.612000													8	32					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839438	62839438	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839438G>A	ENST00000536311.1	+	7	1253	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	MYT1_ENST00000328439.1_Missense_Mutation_p.E297K|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	297	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggaggaagaggaaga	0.582000													23	48					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394579	154394579	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:154394579C>T	ENST00000435029.4	+	1	1320	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	387					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)			AATCTACAATCCCTGATGGAG	0.468000													43	115					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108901	21108901	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21108901C>T	ENST00000320704.3	-	1	949	c.950G>A	c.(949-951)gGg>gAg	p.G317E		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAAAGATTCCCTAAAACGCC	0.343000													41	128					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681328	142681328	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:142681328A>T	ENST00000340634.3	-	1	850	c.851T>A	c.(850-852)cTg>cAg	p.L284Q		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	284						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GGCCACCACCAGCCAGAAGTA	0.597000													18	48					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218594	100218594	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100218594G>A	ENST00000462107.1	-	19	2579	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.S764S|TFR2_ENST00000544242.1_Silent_p.S305S			Q9UP52	TFR2_HUMAN	transferrin receptor 2	764					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGCCAGTGGAGGAGGTGG	0.667000													6	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578626	179578626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179578626G>A	ENST00000589042.1	-	92	26983	c.26759C>T	c.(26758-26760)tCa>tTa	p.S8920L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8603L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7676L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8603	Ig-like 72.						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)			CAACCAACCTGAAACCTGCAA	0.393000													21	25					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849751	73849751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:73849751G>A	ENST00000523207.1	+	3	2749	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	721					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAACTTTAAGGAAAATAGAGG	0.527000													38	117					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953885	50953885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50953885C>T	ENST00000374103.4	-	11	1520	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	OGDHL_ENST00000419399.1_Missense_Mutation_p.E422K|OGDHL_ENST00000432695.1_Missense_Mutation_p.E270K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	479					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCTCCATTCGGCTGCCACA	0.577000													18	55					0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33166049	33166049	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:33166049G>A	ENST00000320954.6	+	3	870	c.771G>A	c.(769-771)aaG>aaA	p.K257K	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Silent_p.K257K	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	257						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGACTTCAAGGATTTCTACC	0.512000													33	79					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20181736	20181736	+	Silent	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:20181736A>T	ENST00000263754.4	+	13	2339	c.1884A>T	c.(1882-1884)atA>atT	p.I628I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	628	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAATTAAAATACCTAAAACCA	0.368000													9	44					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57008860	57008860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57008860G>A	ENST00000179765.5	-	4	777	c.578C>T	c.(577-579)tCa>tTa	p.S193L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S195L|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S225L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S223L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	225					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCCACAACTGAAGTCATCTC	0.512000													9	19					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542523	28542523	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28542523C>T	ENST00000452236.2	-	3	2576	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	653					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTTTCCTCTTCATTGTGCTGG	0.433000													35	109					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245294	7245294	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:7245294G>A	ENST00000158762.3	+	3	345	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	47	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGTCTCCTGGAAAGTGGGCG	0.622000													18	63					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156515	55156515	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:55156515T>C	ENST00000257290.5	+	22	3247	c.2916T>C	c.(2914-2916)agT>agC	p.S972S	FIP1L1_ENST00000507166.1_Silent_p.S732S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	972					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTGAAGAGTGACCATCCTG	0.413000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	57					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697833	55697833	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55697833G>A	ENST00000376350.3	-	15	2664	c.2643_splice	c.e15+1	p.P881_splice	PTPRH_ENST00000263434.5_Splice_Site_p.P703_splice	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	881	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CGACCTTACGGGCATGAAGCT	0.592000													21	70					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69583186	69583186	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:69583186C>T	ENST00000342771.4	+	3	912	c.591C>T	c.(589-591)ttC>ttT	p.F197F	AUTS2_ENST00000406775.2_Silent_p.F197F|AUTS2_ENST00000403018.2_Silent_p.F197F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	197										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAAGGGCTTCCACCGGAGCA	0.423000													13	34					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026024	189026024	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:189026024C>G	ENST00000512729.1	-	2	476	c.102G>C	c.(100-102)ttG>ttC	p.L34F	TRIML2_ENST00000326754.3_Missense_Mutation_p.L34F|TRIML2_ENST00000536972.1_Missense_Mutation_p.L84F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	34							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTCATCAGTCAATATGCTTT	0.383000													5	66					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358116	72358116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:72358116C>T	ENST00000441259.1	-	3	1521	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	PRF1_ENST00000373209.2_Nonsense_Mutation_p.W454*	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	454	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTATTGTCCCACACGGTGCT	0.597000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				16	53					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													9	52					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41039606	41039606	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41039606A>G	ENST00000399564.4	-	20	2455	c.2005T>C	c.(2005-2007)Tta>Cta	p.L669L	MROH2B_ENST00000506092.2_Silent_p.L224L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGAACTTTTAAAACAATATCC	0.308000													3	14					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22690200	22690200	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:22690200C>T	ENST00000376603.2	+	9	1678	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	SPAG6_ENST00000376624.3_Silent_p.F436F|SPAG6_ENST00000538630.1_Silent_p.F411F|SPAG6_ENST00000313311.6_Silent_p.F436F|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Silent_p.F197F			O75602	SPAG6_HUMAN	sperm associated antigen 6	436					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTGGACAGTTCAGTAAGGTAA	0.368000													9	25					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743997	17743997	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:17743997G>A	ENST00000428389.2	-	28	3484	c.3485C>T	c.(3484-3486)cCc>cTc	p.P1162L	UNC13A_ENST00000252773.7_Missense_Mutation_p.P1074L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1074L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1074L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1072L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1074L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1074	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGCTCCTGGGGAAACCTGGC	0.522000													31	66					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:158073936C>T	ENST00000264428.4	+	9	1241	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.S324F|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000													33	87					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44063392	44063392	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:44063392G>C	ENST00000300289.5	+	13	1642	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N	PDIA3_ENST00000538521.1_Missense_Mutation_p.K478N	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	498					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CCAAGAAGAAGAAGAAGGCAC	0.433000													7	35					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568953	11568953	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:11568953C>T	ENST00000359227.3	-	5	1060	c.636G>A	c.(634-636)caG>caA	p.Q212Q	ELAVL3_ENST00000438662.2_Silent_p.Q212Q	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	212					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAGCAGCGCCTGCCCCGTCT	0.632000													13	54					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108229371	108229371	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:108229371G>A	ENST00000273353.3	-	2	123	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	23	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCTGACAGATCCATCTTT	0.438000													18	51					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844930	47844930	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:47844930C>T	ENST00000595464.1	+	2	1092	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	C5AR2_ENST00000600626.1_Silent_p.L292L|C5AR2_ENST00000257267.2_Silent_p.L292L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		CATGCTCTTCCTGTATTTTGG	0.652000													27	58					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107846968	107846968	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:107846968G>C	ENST00000285311.3	-	2	1066	c.361C>G	c.(361-363)Cgc>Ggc	p.R121G	DKK2_ENST00000513208.1_Missense_Mutation_p.R21G|DKK2_ENST00000510463.1_Missense_Mutation_p.R75G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	121	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTATTGCAGCGGGTACTGGGG	0.498000													50	119					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41573349	41573349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41573349G>A	ENST00000396942.1	-	14	1506	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	ANK1_ENST00000379758.2_Missense_Mutation_p.H475Y|ANK1_ENST00000289734.7_Missense_Mutation_p.H475Y|ANK1_ENST00000265709.8_Missense_Mutation_p.H508Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H475Y|ANK1_ENST00000352337.4_Missense_Mutation_p.H475Y|ANK1_ENST00000347528.4_Missense_Mutation_p.H475Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	475	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTGCACAGTGAAGTGGGGTC	0.537000													14	53					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177937035	177937035	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:177937035G>A	ENST00000308284.6	-	2	171	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R28W|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.R28W	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	28					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCATCTCTCCGAAACCCTCGG	0.577000													27	33					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234493	21234493	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21234493C>T	ENST00000233242.1	-	26	5374	c.5247G>A	c.(5245-5247)atG>atA	p.M1749I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1749					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTCAAATTTCATTTCAGCAT	0.388000													70	163					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938554	12938554	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:12938554G>A	ENST00000218032.6	+	2	1482	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	TLR8_ENST00000311912.5_Silent_p.S483S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	465					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCACATTCGAACTTTTATC	0.403000													30	49					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888461	12888461	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12888461G>A	ENST00000535591.1	-	2	258	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	21										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCGGCGGAAGGGCCAGG	0.607000													18	51					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469490	21469490	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21469490A>T	ENST00000298681.4	+	4	839	c.682A>T	c.(682-684)Ata>Tta	p.I228L	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	228						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGTTCTCCATACTATTATT	0.572000													19	48					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36757056	36757056	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:36757056C>T	ENST00000354618.5	+	6	2051	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Silent_p.S609S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	609					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S609S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTTTCGTTCCATTTTCCAGC	0.458000			T	USP6	aneurysmal bone cysts								30	59					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835800	12835800	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12835800G>A	ENST00000357726.4	+	2	429	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	134										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCAGGGAACTGTCCAA	0.537000													56	75					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:84454471C>T	ENST00000377084.2	-	1	2057	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000													72	115					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026238	43026238	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43026238T>A	ENST00000161559.6	-	3	675	c.541A>T	c.(541-543)Aac>Tac	p.N181Y	CEACAM1_ENST00000403444.3_Missense_Mutation_p.N181Y|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Missense_Mutation_p.N141Y|CEACAM1_ENST00000403461.1_Missense_Mutation_p.N181Y|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N181Y|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N181Y|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.N181Y	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	181	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTCTGATTGTTTATCCACCAC	0.542000													63	196					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169469	113169469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113169469C>T	ENST00000401783.2	-	38	8747	c.8411G>A	c.(8410-8412)gGa>gAa	p.G2804E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2781E|SVEP1_ENST00000297826.5_Missense_Mutation_p.G730E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2804	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGCACATATCCGGGGTCACA	0.478000													74	61					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911232	59911232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59911232G>A	ENST00000396065.1	+	3	1243	c.795G>A	c.(793-795)tgG>tgA	p.W265*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.W265*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	265					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACCCGCTGGAAATATCACT	0.433000													64	163					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337661	19337661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:19337661G>A	ENST00000252575.5	+	7	1482	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	480					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTAGGAGAAGGGGGCGCTTC	0.662000													16	26					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:234112876C>T	ENST00000359570.5	+	28	3044	c.3044C>T	c.(3043-3045)tCc>tTc	p.1015_1015insF	INPP5D_ENST00000455936.2_Missense_Mutation_p.779_779insF|INPP5D_ENST00000450745.1_Missense_Mutation_p.779_779insF			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCCTGAGTTCCTTCCCTAAG	0.632000													17	27					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604014	95604014	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:95604014G>A	ENST00000343958.4	-	2	1269	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	FGD6_ENST00000546711.1_Missense_Mutation_p.S349F|FGD6_ENST00000549499.1_Missense_Mutation_p.S349F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	349	Poly-Ser.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTAAGACAGGAAGAGCTACT	0.403000													39	88					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131271342	131271342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:131271342C>T	ENST00000309971.4	+	2	393	c.287C>T	c.(286-288)tCc>tTc	p.S96F	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S96F	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	96					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGCCTTTTCCCCAGCCTCC	0.473000													65	29					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695336	30695336	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:30695336T>A	ENST00000256246.2	-	3	7389	c.7315A>T	c.(7315-7317)Aat>Tat	p.N2439Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2439										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGTTCACATTTCTTTTCTTC	0.363000													57	191					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443556	5443556	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5443556G>A	ENST00000300778.4	+	1	216	c.126G>A	c.(124-126)atG>atA	p.M42I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCATCATGGGCAATACCA	0.542000													59	96					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018970	62018970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:62018970C>T	ENST00000435607.1	-	24	4748	c.4672G>A	c.(4672-4674)Gag>Aag	p.E1558K	SCN4A_ENST00000578147.1_Missense_Mutation_p.E1558K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1558					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCGGGTTCTCCAGGTTGGGG	0.602000													12	26					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415652	65415652	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:65415652C>T	ENST00000330909.8	-	12	1709	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V	MAGI1_ENST00000402939.2_Silent_p.V570V|MAGI1_ENST00000483466.1_Silent_p.V570V|MAGI1_ENST00000497477.2_Silent_p.V570V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	570					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTACCGAGGTCACTAAACTTG	0.458000													21	57					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7522042C>T	ENST00000313599.3	-	15	4007	c.3950G>A	c.(3949-3951)gGa>gAa	p.G1317E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1327E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1317E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000													31	81					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680357	95680357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:95680357G>A	ENST00000433389.2	+	10	1302	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E	ESRP1_ENST00000423620.2_Missense_Mutation_p.G371E|ESRP1_ENST00000454170.2_Missense_Mutation_p.G371E|ESRP1_ENST00000358397.5_Missense_Mutation_p.G371E	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	371	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGCCAACAGGGGACGCTTTT	0.483000													19	57					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18226060	18226060	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18226060G>A	ENST00000406438.3	+	2	2970	c.2490G>A	c.(2488-2490)ctG>ctA	p.L830L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	830										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGCCCCGCCTGGCAGACCACC	0.612000													18	36					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47663740	47663740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:47663740C>T	ENST00000273857.4	-	12	1722	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	CORIN_ENST00000508498.1_Missense_Mutation_p.E436K|CORIN_ENST00000502252.1_Missense_Mutation_p.E508K|CORIN_ENST00000504584.1_Missense_Mutation_p.E538K|CORIN_ENST00000505909.1_Missense_Mutation_p.E538K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	575					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCACATATTCATCAGGCATC	0.388000													9	52					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990485	215990485	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:215990485C>T	ENST00000366943.2	-	48	9810	c.9424G>A	c.(9424-9426)Gga>Aga	p.G3142R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3142R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3142	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCATATCCAAGAATGATG	0.403000										HNSCC(13;0.011)			52	88					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988293	124988293	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:124988293C>T	ENST00000522917.1	+	9	1045	c.839C>T	c.(838-840)cCc>cTc	p.P280L	FER1L6_ENST00000399018.1_Missense_Mutation_p.P280L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	280	C2 2.					integral to membrane		p.P280L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGGTGGATCCCTTTGTGGAG	0.502000													44	88					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302655	87302655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:87302655G>A	ENST00000263780.4	+	5	764	c.526G>A	c.(526-528)Gga>Aga	p.G176R	CHMP2B_ENST00000494980.1_Missense_Mutation_p.G146R|CHMP2B_ENST00000471660.1_Missense_Mutation_p.G135R	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	176					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGAAATTTCTGGAAAGGTATG	0.348000													7	17					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586552	20586552	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20586552G>A	ENST00000315543.4	+	1	987	c.987G>A	c.(985-987)atG>atA	p.M329I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATATCCATGAAAAAACTCT	0.373000													8	18					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985162	157985162	+	Missense_Mutation	SNP	C	C	T	rs146516476		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:157985162C>T	ENST00000389413.3	-	5	509	c.406G>A	c.(406-408)Gag>Aag	p.E136K	PTPRN2_ENST00000409483.1_Missense_Mutation_p.E98K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E159K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E119K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E136K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	136						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E136K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TACCTCCTCTCGCTGCCAACG	0.632000													27	65					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584508	189584508	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:189584508G>A	ENST00000264731.3	+	6	893	c.804G>A	c.(802-804)gaG>gaA	p.E268E	TP63_ENST00000354600.5_Silent_p.E174E|TP63_ENST00000392460.3_Silent_p.E268E|TP63_ENST00000382063.4_Silent_p.E183E|TP63_ENST00000392463.2_Silent_p.E174E|TP63_ENST00000456148.1_Silent_p.E174E|TP63_ENST00000418709.2_Silent_p.E268E|TP63_ENST00000320472.5_Silent_p.E268E|TP63_ENST00000440651.2_Silent_p.E268E|TP63_ENST00000392461.3_Silent_p.E174E|TP63_ENST00000449992.1_Silent_p.E89E|TP63_ENST00000437221.1_Silent_p.E174E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	268					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCGAGTAGAGGGGAACAGCC	0.413000										HNSCC(45;0.13)			19	23					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480293	73480293	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:73480293C>T	ENST00000523207.1	+	2	912	c.324C>T	c.(322-324)ctC>ctT	p.L108L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	108					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCGGGAAACTCCATATGATGG	0.453000													24	53					0	0	1	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55325158	55325158	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55325158G>A	ENST00000396284.2	+	7	885	c.885G>A	c.(883-885)atG>atA	p.M295I	KIR2DL4_ENST00000359085.4_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.M223I|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.M128I|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.M240I|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.M145I					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTGCTGTAATGAACCAAGAGC	0.507000													25	70					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462099	70462099	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70462099C>T	ENST00000503640.1	-	3	920	c.864_splice	c.e3-1	p.E289_splice	UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Splice_Site_p.E298_splice|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000514019.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	289					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTCCATTTCCTGCATACAT	0.308000													18	55					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943503	14943503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:14943503G>A	ENST00000261167.2	-	10	1429	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L	WBP11_ENST00000537574.1_Missense_Mutation_p.P399L	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	399	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TATCTGAGAAGGAGGAACAGA	0.557000													27	58					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383180	29383180	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:29383180C>T	ENST00000544604.2	+	2	592	c.417C>T	c.(415-417)gtC>gtT	p.V139V	ZNRF3_ENST00000402174.1_Silent_p.V39V|ZNRF3_ENST00000332811.4_Silent_p.V39V|ZNRF3_ENST00000406323.3_Silent_p.V39V	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	139						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCTCACTGTCCTAGGCAAGG	0.453000													23	75					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967153	49967153	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49967153C>T	ENST00000293350.4	+	9	1304	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.P216S|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.P330S|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.P218S|CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.S16F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	381							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCATTCTATCCCCCAACCTT	0.597000													56	184					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055221	62055221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:62055221C>T	ENST00000577390.1	-	2	1041	c.87G>A	c.(85-87)atG>atA	p.M29I	CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448000													23	66					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687916	61687916	+	Missense_Mutation	SNP	G	G	A	rs140000814	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:61687916G>A	ENST00000577390.1	-	12	2950	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	CDH8_ENST00000577730.1_Missense_Mutation_p.R666C|CDH8_ENST00000299345.6_Missense_Mutation_p.R666C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGTAGCGAATGATGTTT	0.408000													38	126					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920029	196920029	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196920029G>A	ENST00000367415.4	+	3	415	c.301G>A	c.(301-303)Gga>Aga	p.G101R	CFHR2_ENST00000476712.1_Splice_Site|CFHR2_ENST00000367421.3_Missense_Mutation_p.G101R	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	101	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGAATCTTCAGGACAAACACA	0.363000													20	83					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43100175	43100175	+	Silent	SNP	G	G	C	rs61739218	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43100175G>C	ENST00000230419.4	+	7	1199	c.978G>C	c.(976-978)ccG>ccC	p.P326P	PTK7_ENST00000471863.1_Silent_p.P326P|PTK7_ENST00000352931.2_Silent_p.P326P|PTK7_ENST00000481273.1_Silent_p.P334P|PTK7_ENST00000349241.2_Silent_p.P326P|PTK7_ENST00000345201.2_Silent_p.P326P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	326	Ig-like C2-type 4.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AAGACATGCCGCTATTTGAGC	0.577000													17	72					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020659	5020659	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5020659C>T	ENST00000321543.1	+	1	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGTTTGGCCTGTTTGCTAC	0.502000													51	88					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681844	91681844	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681844C>T	ENST00000518868.1	+	16	2350	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	C14orf159_ENST00000428926.2_Missense_Mutation_p.P549S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P554S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P425S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P554S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P549S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P549S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P549S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P514S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P497S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	549						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGCAGTCGGACCCTCCAGGGC	0.582000													11	62					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328644	160328644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160328644G>A	ENST00000252660.4	+	1	671	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	219					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AGAACACGTGGGCTTCCCATT	0.488000													17	22					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251152	160251152	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:160251152T>C	ENST00000264431.4	+	6	1228	c.809T>C	c.(808-810)aTt>aCt	p.I270T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	270	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGGGACACATTGTCATCAAG	0.393000													24	61					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284643	52284643	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52284643C>T	ENST00000301190.6	+	5	1140	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Silent_p.L111L|ANKRD33_ENST00000340970.4_Silent_p.L180L	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	180										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGGGGTGTTCTGGACCACCT	0.657000													7	26					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47761815	47761815	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:47761815G>A	ENST00000221922.6	+	3	225		c.e3-1			NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCGGTCTCAGGCAGCCACAC	0.562000													32	71					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050874	8050874	+	RNA	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:8050874T>A	ENST00000607111.1	+	0	277																				kidney(1)|lung(4)|prostate(1)	6						aagacctggttccagaaccag	0.363000													6	14					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571909	47571909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:47571909C>T	ENST00000334194.3	+	9	1180	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	393			P -> L (in dbSNP:rs28463559).			endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CATCACCTTTCCAGATGGACG	0.438000													6	86					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96728589	96728589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:96728589G>A	ENST00000261211.3	-	2	629	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CDK17_ENST00000543119.2_Missense_Mutation_p.S9F|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	9							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GAGTGTGAGGGATAGCCTTCT	0.323000													7	21					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829475	38829475	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:38829475A>G	ENST00000436693.2	-	2	1739	c.1620T>C	c.(1618-1620)ttT>ttC	p.F540F	TLR6_ENST00000381950.1_Silent_p.F540F	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	540	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTTTGACAAATTCTCTTA	0.433000													110	306					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042400	100042400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:100042400C>T	ENST00000324341.1	+	1	870	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	150										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTTTTTATCTTCAGCTGTG	0.468000													25	54					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38883394	38883394	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:38883394G>A	ENST00000487273.2	+	10	1065	c.987G>A	c.(985-987)ggG>ggA	p.G329G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	329	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACGCAGGCGGGATTAATGTGG	0.393000													33	108					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33457354	33457354	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33457354G>A	ENST00000158009.5	+	4	991	c.876G>A	c.(874-876)caG>caA	p.Q292Q	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	292										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		ACCCCATCCAGATCACCGTGC	0.532000													18	52					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133973262	133973262	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:133973262C>T	ENST00000220616.4	+	28	5451	c.5411C>T	c.(5410-5412)cCc>cTc	p.P1804L	TG_ENST00000377869.1_Missense_Mutation_p.P1747L|TG_ENST00000542445.1_Missense_Mutation_p.P174L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1804					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTCTGACACCCTTAGAAGGA	0.478000													26	73					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423421	56423421	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56423421A>C	ENST00000588751.1	-	5	1786	c.1762T>G	c.(1762-1764)Ttc>Gtc	p.F588V	NLRP13_ENST00000342929.3_Missense_Mutation_p.F588V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	588							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGACCAAAGAAGAACAGAACC	0.403000													34	92					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95272517	95272517	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:95272517C>T	ENST00000297596.2	-	2	479	c.215G>A	c.(214-216)gGg>gAg	p.G72E	GEM_ENST00000396194.2_Missense_Mutation_p.G72E	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	72					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGGTGTTCCCTGACTCAGA	0.592000													15	29					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60600937	60600937	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:60600937T>C	ENST00000406854.1	+	11	4071	c.3517T>C	c.(3517-3519)Tag>Cag	p.*1173Q	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Nonstop_Mutation_p.*1173Q|PCNXL4_ENST00000317623.4_Nonstop_Mutation_p.*939Q|PCNXL4_ENST00000535349.1_3'UTR					pecanex-like 4 (Drosophila)																		ACATTTGTATTAGAGCTCATT	0.363000													35	112					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101656153	101656153	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:101656153G>A	ENST00000324109.4	-	10	3013	c.2920_splice	c.e10-1	p.V974_splice	DNMBP_ENST00000540316.1_Intron|DNMBP_ENST00000543621.1_Splice_Site_p.V220_splice|DNMBP_ENST00000342239.3_Silent_p.V998V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	974					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGTACTTGAGGACTAGGGAGT	0.438000													24	85					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24792231	24792231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24792231C>T	ENST00000310677.4	-	19	2334	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	ADCY4_ENST00000418030.2_Missense_Mutation_p.E741K|ADCY4_ENST00000554068.2_Missense_Mutation_p.E741K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	741					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTTCAGCTCGAAGCTCATG	0.627000													7	19					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65249267	65249267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:65249267C>T	ENST00000389722.3	-	19	4060	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	SPTB_ENST00000542895.1_Missense_Mutation_p.G1336E|SPTB_ENST00000556626.1_Missense_Mutation_p.G1336E|SPTB_ENST00000389721.5_Missense_Mutation_p.G1336E|SPTB_ENST00000389720.3_Missense_Mutation_p.G1336E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1336					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCTGCTTTCCTTCCTAGGG	0.587000													39	113					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121774339	121774339	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121774339G>A	ENST00000330540.2	+	1	119	c.3G>A	c.(1-3)atG>atA	p.M1I	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Start_Codon_SNP_p.M1I|CD86_ENST00000264468.5_Start_Codon_SNP_p.M1I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	1					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CAGCCAAAATGGATCCCCAGT	0.453000													17	51					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33117641	33117641	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:33117641A>G	ENST00000373493.5	+	2	302	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	RBBP4_ENST00000373485.1_Missense_Mutation_p.Q48R|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000458695.2_Missense_Mutation_p.Q13R|RBBP4_ENST00000414241.3_Missense_Mutation_p.Q47R|RBBP4_ENST00000544435.1_5'UTR	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	48					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTAACTGCCCAGTGGCTTCCA	0.418000													28	88					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11181421	11181421	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:11181421G>A	ENST00000361445.4	-	49	6891	c.6815C>T	c.(6814-6816)gCt>gTt	p.A2272V	MTOR_ENST00000376838.1_Missense_Mutation_p.A477V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2272	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAGTCCGGAGCCATCTGCAT	0.532000													17	34					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493587	60493587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:60493587C>T	ENST00000450662.2	+	12	1441	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	EFCAB3_ENST00000305286.3_Missense_Mutation_p.S405F	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	405							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAGAAATTCCTCCCATAAC	0.373000													38	80					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29839791	29839791	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:29839791G>A	ENST00000375398.2	-	8	1011	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	SVIL_ENST00000375400.3_Missense_Mutation_p.H188Y|SVIL_ENST00000355867.4_Missense_Mutation_p.H188Y			O95425	SVIL_HUMAN	supervillin	188					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCACCCACATGGAGGGCATAG	0.582000													20	83					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622362	29622362	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29622362C>T	ENST00000247271.4	-	2	1249	c.988G>A	c.(988-990)Gct>Act	p.A330T	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	330					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GGCACAAAAGCCTTATCAGTG	0.423000													54	163					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24447179	24447179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:24447179C>T	ENST00000230036.1	-	18	1817	c.1707G>A	c.(1705-1707)tgG>tgA	p.W569*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	569						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTCACCGTCCAGTTGGCTG	0.483000													21	74					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37262196	37262196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:37262196G>A	ENST00000315392.4	-	7	933	c.722C>T	c.(721-723)tCt>tTt	p.S241F	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.S168F|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S201F|PLXDC1_ENST00000394316.2_Missense_Mutation_p.S241F	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	241					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCGGGACAGACATAGGGAT	0.587000													19	53					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398705	68398705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:68398705C>T	ENST00000219334.5	-	5	2107	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	SMPD3_ENST00000568373.1_Missense_Mutation_p.V502M|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.V502M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	502					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCAAATGCCACCAGCTCCTCG	0.602000													16	29					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383181	29383181	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:29383181C>T	ENST00000544604.2	+	2	593	c.418C>T	c.(418-420)Cta>Tta	p.L140L	ZNRF3_ENST00000402174.1_Silent_p.L40L|ZNRF3_ENST00000332811.4_Silent_p.L40L|ZNRF3_ENST00000406323.3_Silent_p.L40L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	140						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCTCACTGTCCTAGGCAAGGT	0.458000													24	76					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479691	27479691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:27479691G>A	ENST00000233535.4	-	6	1200	c.848C>T	c.(847-849)cCc>cTc	p.P283L	SLC30A3_ENST00000447008.2_Missense_Mutation_p.P278L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	283					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGAGGGTGGGAGCGGTGGA	0.587000													11	28					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970003	161970003	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:161970003G>A	ENST00000294794.3	-	5	1272	c.849C>T	c.(847-849)gtC>gtT	p.V283V	OLFML2B_ENST00000367940.2_Silent_p.V284V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	283										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCTCAGGTGGACCTGCCTCT	0.592000													20	92					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626175	142626175	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142626175C>T	ENST00000265310.1	-	5	876	c.528G>A	c.(526-528)gaG>gaA	p.E176E	TRPV5_ENST00000442623.1_Silent_p.E176E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	176					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCACGATCTCCTCGCTGTTCA	0.612000													8	25					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73466816	73466816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:73466816C>T	ENST00000299366.7	+	26	3503	c.3251C>T	c.(3250-3252)cCg>cTg	p.P1084L	CDH23_ENST00000224721.6_Intron	NM_001171931.1	NP_001165402.1	Q9H251	CAD23_HUMAN	cadherin-related 23	2773	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGCTGCCCCGGCCTCCGCC	0.657000													4	5					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444514	49444514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49444514G>A	ENST00000301067.7	-	11	2856	c.2857C>T	c.(2857-2859)Cct>Tct	p.P953S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCCCCAAAGGAGACAGGGCC	0.577000													7	22					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726928	63726928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:63726928G>A	ENST00000421025.1	+	5	1186	c.917G>A	c.(916-918)aGc>aAc	p.S306N	ZNF679_ENST00000255746.4_Missense_Mutation_p.S306N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAGCCTTTAGCTTATCCTCA	0.448000													10	53					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141327125	141327125	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:141327125G>A	ENST00000325617.5	-	5	830	c.390C>T	c.(388-390)ttC>ttT	p.F130F	CLGN_ENST00000414773.1_Silent_p.F130F|CLGN_ENST00000537281.1_Silent_p.F130F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	130					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CAGCAAAAATGAATGGTTTTG	0.343000													10	28					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245175	233245175	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:233245175C>T	ENST00000392027.2	+	7	1107	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	280						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGCTTCCCTGGACCCGTC	0.627000													25	68					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994241	106994241	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106994241G>A	ENST00000390624.2	-	0	105																											TAGCAACAAGGAAAACCCAGC	0.463000													75	200					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545536	151545536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:151545536C>T	ENST00000232892.6	+	5	902	c.776C>T	c.(775-777)tCa>tTa	p.S259L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	259					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACTGATAGATCACTTGAAAAA	0.358000													22	65					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29151610	29151610	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29151610C>T	ENST00000324238.6	-	1	184	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CRLF3_ENST00000544695.1_5'UTR	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	20					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GCGCTGCCTCCACGTTCTCGC	0.721000													7	11					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764183	83764183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:83764183C>T	ENST00000265362.3	-	2	511	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R66Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	66	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTACTCCGTTCCTCATC	0.383000													35	61					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655091	3655091	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:3655091C>T	ENST00000263087.4	-	15	1844	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	582					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCCCATAGCCGCCATGGCAA	0.567000													24	58					0	0	1	0	0
UBE2F	140739	broad.mit.edu	37	2	238925255	238925255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:238925255C>T	ENST00000272930.4	+	5	456	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.P88S|UBE2F_ENST00000409332.1_Missense_Mutation_p.P66S|UBE2F_ENST00000409953.1_Missense_Mutation_p.P64S|UBE2F_ENST00000409633.1_Missense_Mutation_p.P88S|UBE2F_ENST00000414443.1_Missense_Mutation_p.P56S	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	88					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		AACTGAAGTTCCCGATGCGTA	0.453000													46	131					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76566355	76566355	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76566355C>T	ENST00000389840.5	-	7	1142	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E340K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGCAGAACTCCTGCAGGATG	0.582000													3	5					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247328	55247328	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55247328G>A	ENST00000291860.1	+	7	1114	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	366						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GAACAGAACAGTGAACAGGGA	0.532000													43	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610707	179610707	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179610707C>T	ENST00000360870.5	-	46	16642	c.16420G>A	c.(16420-16422)Gaa>Aaa	p.E5474K	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8981	Ig-like 35.						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)			GCAAATATTTCAGAATCTCCC	0.393000													42	91					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440079	25440079	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:25440079G>A	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						GGTCGATGATGAGAAACTTAT	0.527000													99	291					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60551375	60551375	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:60551375G>A	ENST00000252996.3	-	15	3106	c.3107C>T	c.(3106-3108)tCa>tTa	p.S1036L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1036					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGGGACCACTGAGCCGGGGCC	0.552000													38	112					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602847	5602847	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5602847C>T	ENST00000345043.2	+	1	741	c.741C>T	c.(739-741)ctC>ctT	p.L247L	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCCGCCTCCTTTCTCAAG	0.502000													72	106					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842648	169842648	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:169842648C>T	ENST00000263817.6	-	10	1179	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	352	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGTATATTCTCCTTCATCCAG	0.443000													10	24					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11420586	11420586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:11420586G>A	ENST00000259089.4	+	12	1871	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	BLK_ENST00000529894.1_Missense_Mutation_p.E356K	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	427	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTCCTGATGGAAGTTGTCAC	0.627000													11	30					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137810	54137810	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54137810G>A	ENST00000376650.1	+	2	105	c.54G>A	c.(52-54)agG>agA	p.R18R		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATTCACACAGGAAACGAACCA	0.443000													41	116					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30975506	30975506	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:30975506C>T	ENST00000262519.8	+	6	1417	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	244	Ser-rich.			PCSQDTS -> ACPVTHV (in Ref. 3; AAH35795).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACCCCCTGCTCCCAGGACACA	0.637000													31	62					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913400	51913400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:51913400C>T	ENST00000371117.3	-	23	2572	c.2297G>A	c.(2296-2298)gGa>gAa	p.G766E	PKHD1_ENST00000340994.4_Missense_Mutation_p.G766E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	766					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTTCTGTTCCTTCAGTGGG	0.527000													21	52					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243273	38243273	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:38243273C>T	ENST00000319669.4	+	11	807	c.705C>T	c.(703-705)ttC>ttT	p.F235F	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	235						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CCCTATTTTTCATCAGACTGC	0.378000													28	59					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613372	39613372	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:39613372G>A	ENST00000265708.4	-	16	1775	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.P539S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	558	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P558S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTGGCTCTTGGAATTTGTAAT	0.303000													20	51					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009289	213009289	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:213009289G>A	ENST00000332912.3	-	2	310	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	68										kidney(1)|large_intestine(1)|lung(1)	3						GCCACTGTTGGGAACAGGCTC	0.453000													95	91					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939292	14939292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:14939292C>T	ENST00000313519.5	+	2	676	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.L209F	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	209					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGCTGGAGTTCTTTTGGCTTA	0.413000													42	82					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555137	22555137	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22555137G>A	ENST00000390451.2	+	0	308																											AAGaaagaaggaagattcaca	0.453000													7	8					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858028	42858028	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:42858028C>T	ENST00000334370.4	+	21	4297	c.3662C>T	c.(3661-3663)cCa>cTa	p.P1221L	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1288L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1288	Laminin EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGCTGCCTCCAGGTGGCGGG	0.692000													3	9					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919441	26919441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:26919441G>A	ENST00000321765.5	-	3	1153	c.821C>T	c.(820-822)gCt>gTt	p.A274V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	274					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCCTCCATAGCTCCATGCTC	0.473000													26	68					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094543	76094543	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76094543C>T	ENST00000335749.4	+	18	5103	c.4534C>T	c.(4534-4536)Cca>Tca	p.P1512S	TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1512S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1476S|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1476S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1512S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1476S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1476	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGGCCACCTCCAGGGTTAAC	0.612000													27	52					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915250	176915250	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176915250G>A	ENST00000367654.2	-	13	2098	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.I687I|ASTN1_ENST00000367657.3_Silent_p.I687I|ASTN1_ENST00000361833.2_Silent_p.I687I			O14525	ASTN1_HUMAN	astrotactin 1	695	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTAGTCCTCGATGCACCTAG	0.507000													13	63					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13610664	13610664	+	Missense_Mutation	SNP	G	G	A	rs148869724	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:13610664G>A	ENST00000337743.4	-	2	182	c.62C>T	c.(61-63)tCg>tTg	p.S21L	TASP1_ENST00000544472.1_Missense_Mutation_p.S21L|TASP1_ENST00000539805.1_Missense_Mutation_p.S21L|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	21					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TTTACCAGCCGAAACCTGAGA	0.468000													34	81					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59947127	59947127	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:59947127G>A	ENST00000444766.3	-	21	3100	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	INTS2_ENST00000251334.6_Missense_Mutation_p.P1001S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1009					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GCAATGTTGGGATCTGCAATG	0.383000													38	128					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939588	72939588	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:72939588G>A	ENST00000553530.1	+	9	752	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	RGS6_ENST00000553525.1_Missense_Mutation_p.R182Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R182Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.R182Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R43Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R182Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R182Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R182Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R113Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R182Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R182Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R182Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	182					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGATTGACCGGAAAAAAGAC	0.448000													44	139					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246598	80246598	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:80246598T>G	ENST00000286794.4	-	1	606	c.434A>C	c.(433-435)tAt>tCt	p.Y145S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	145	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTTCATAGCATAAGCATCTTC	0.507000													12	44					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593933	16593933	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16593933G>A	ENST00000443444.2	+	1	359	c.219G>A	c.(217-219)caG>caA	p.Q73Q	CCDC144A_ENST00000360524.8_Silent_p.Q73Q|CCDC144A_ENST00000399273.1_Silent_p.Q73Q|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Q73Q|CCDC144A_ENST00000340621.5_Silent_p.Q73Q|CCDC144A_ENST00000456009.1_Silent_p.Q73Q			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	73																	ACCAGCCCCAGCACGACGTCC	0.662000													35	122					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866813	70866813	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:70866813C>T	ENST00000393567.2	-	80	13987	c.13837G>A	c.(13837-13839)Gga>Aga	p.G4613R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4613										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGACTGCCTCCCTGGATGTAG	0.542000													7	37					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76396798	76396798	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76396798C>A	ENST00000262764.6	+	6	768	c.742C>A	c.(742-744)Cgc>Agc	p.R248S	PGS1_ENST00000329897.7_Missense_Mutation_p.R113S|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	248					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCGCCAGGACCGCTACGTGTT	0.612000													26	91					2.4375e-19	2.48255e-19	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155150499	155150499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:155150499G>A	ENST00000392451.2	+	6	1014	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TRIM46_ENST00000545012.1_Missense_Mutation_p.E185K|TRIM46_ENST00000334634.4_Missense_Mutation_p.E311K|TRIM46_ENST00000543729.1_Missense_Mutation_p.E318K|TRIM46_ENST00000368383.3_Missense_Mutation_p.E311K|TRIM46_ENST00000368385.4_Missense_Mutation_p.E311K|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.E288K			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	311						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGGCCAAGGAGGAGGTGTC	0.612000													23	31					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917175	97917175	+	RNA	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:97917175C>A	ENST00000534948.1	+	0	1953							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCATGTTGTTCAAGAGCATTT	0.388000													6	14					3.59834e-05	3.62556e-05	1	1	0
RBMX	27316	broad.mit.edu	37	X	135960194	135960194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:135960194C>T	ENST00000562646.1	-	4	422	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.E90K|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	90						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTACCACTTTCAAATGATGGT	0.433000													14	38					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927206	130927206	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:130927206C>T	ENST00000261655.4	-	8	804		c.e8-1		RIMBP2_ENST00000535703.1_Splice_Site|RIMBP2_ENST00000536002.1_Splice_Site	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2							cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGAGCTCTCCTGTTGGGTAC	0.617000													8	29					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	G	A	rs143953030		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:113890711G>A	ENST00000383673.2	-	2	559	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_ENST00000295881.7_Silent_p.I43I|DRD3_ENST00000460779.1_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	43					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000													15	29					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235198	100235198	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100235198C>T	ENST00000305046.8	-	6	675	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ADH1B_ENST00000394887.3_Missense_Mutation_p.G163E			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGGCCGACCCCTCCCAGGCC	0.473000													95	239					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689819	32689819	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:32689819C>T	ENST00000421745.2	+	25	5318	c.5184C>T	c.(5182-5184)ttC>ttT	p.F1728F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1728					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACAGCTTTTCCCAGGCTCAG	0.433000													32	59					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158296126	158296126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:158296126C>T	ENST00000392185.3	+	4	389	c.218C>T	c.(217-219)tCa>tTa	p.S73L	RP11-52J3.2_ENST00000457427.1_RNA|RP11-52J3.2_ENST00000422776.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	73					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGTGGAAATTCAGTGGCTGAC	0.473000													21	30					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	674722	674722	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:674722G>A	ENST00000382409.3	-	10	1801	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	DEAF1_ENST00000338675.6_Silent_p.P350P|DEAF1_ENST00000525904.1_5'UTR|RP11-754B17.1_ENST00000527799.1_RNA	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	439	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TGACCAACGCGGGAGGTGCCG	0.567000													31	41					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148431805	148431805	+	Splice_Site	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:148431805T>A	ENST00000515425.1	-	2	154		c.e2-2		SH3TC2_ENST00000512049.1_Splice_Site|SH3TC2_ENST00000394358.2_Splice_Site	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2								binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTTTACCTGGAGAAGATG	0.378000													31	96					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477643	74477643	+	Splice_Site	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:74477643A>G	ENST00000394019.2	-	17	1877	c.1478_splice	c.e17-1	p.F494_splice	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Splice_Site_p.F494_splice|SLC4A5_ENST00000377632.1_Splice_Site_p.F494_splice|SLC4A5_ENST00000377634.4_Splice_Site_p.F494_splice|SLC4A5_ENST00000359484.4_Splice_Site_p.F430_splice|SLC4A5_ENST00000358683.4_Splice_Site_p.F430_splice|SLC4A5_ENST00000357822.5_Splice_Site_p.F494_splice|SLC4A5_ENST00000346834.4_Splice_Site_p.F494_splice	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	494	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCACCGAAGAACCTGCTCAAG	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	102					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700249	77700249	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:77700249C>T	ENST00000296043.6	+	11	6863	c.5910C>T	c.(5908-5910)ccC>ccT	p.P1970P	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1970					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCTCTGCCCCCAAACCTCA	0.532000													22	65					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594893	50594893	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50594893C>T	ENST00000374139.2	-	4	256	c.246G>A	c.(244-246)caG>caA	p.Q82Q	DRGX_ENST00000434016.1_Silent_p.Q87Q			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	87					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCCTTCTGTTCTGGAACCAAA	0.552000													59	165					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046940	55046940	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55046940C>T	ENST00000335056.3	+	4	523	c.485C>T	c.(484-486)tCc>tTc	p.S162F	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ATACAGCATTCCCAGCAGCTT	0.552000													14	32					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757656	75757656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:75757656C>T	ENST00000260113.2	+	5	744	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.H189Y|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	189						extracellular region	peptidase inhibitor activity	p.H189Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGCGCAATTCATACTTGCCA	0.428000													17	61					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957396	50957396	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50957396C>T	ENST00000357701.5	+	17	1920	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	623	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCACCAACCCCGTCGGCGAGG	0.632000													6	15					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9783763	9783763	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9783763C>T	ENST00000383829.2	+	6	2313	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F	BRPF1_ENST00000433861.2_Missense_Mutation_p.L637F|BRPF1_ENST00000457855.1_Missense_Mutation_p.L637F|BRPF1_ENST00000302054.3_Missense_Mutation_p.L637F|BRPF1_ENST00000424362.1_Missense_Mutation_p.L637F	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	637	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCATCCTCCTTCGCAAAAC	0.512000													13	37					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87033186	87033186	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:87033186G>A	ENST00000370563.3	+	7	1076	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	CLCA4_ENST00000263723.5_Missense_Mutation_p.G58E	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	345	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCCTGGGTGGGGATGGTTCAC	0.388000													18	26					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485076	97485076	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:97485076A>G	ENST00000376705.2	+	2	1064	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	347						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AACCTGAAGAACATGGCCTTC	0.473000													34	47					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21472326	21472326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21472326C>T	ENST00000390670.3	-	2	271	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000452078.1_Intron			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	0					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						tccactctttcctgttcttgc	0.403000													16	56					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153929	41153929	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41153929G>C	ENST00000263413.3	-	15	2537	c.2273C>G	c.(2272-2274)tCt>tGt	p.S758C	C6_ENST00000337836.5_Missense_Mutation_p.S758C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	758	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACAGGTGAGAGAGTTTGAAAT	0.478000													16	47					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109489911	109489911	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:109489911C>T	ENST00000295124.4	+	14	1758	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	566										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTGCAGAATCCTTGCAGCCTT	0.363000													26	82					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2866754	2866754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2866754G>A	ENST00000254695.8	+	6	367	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E93K|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E74K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E78K|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	93					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGCATCGACGAGGTAGGTGC	0.622000													39	114					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412393	105412393	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:105412393G>T	ENST00000333244.5	-	7	9514	c.9395C>A	c.(9394-9396)gCc>gAc	p.A3132D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3132						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCGGCCAGGGACAG	0.612000													32	91					4.07013e-28	4.15595e-28	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	92020282	92020282	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:92020282G>A	ENST00000450295.1	-	3	866	c.90C>T	c.(88-90)atC>atT	p.I30I	SEMA4D_ENST00000455551.2_Silent_p.I30I|SEMA4D_ENST00000339861.4_Silent_p.I30I|SEMA4D_ENST00000438547.2_Silent_p.I30I|SEMA4D_ENST00000343780.4_Silent_p.I30I|SEMA4D_ENST00000356444.2_Silent_p.I30I|SEMA4D_ENST00000420987.1_Silent_p.I30I|SEMA4D_ENST00000422704.2_Silent_p.I30I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	30	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCTCCCAGGTGATCCGGGGTA	0.617000													16	13					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127680179	127680179	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:127680179G>A	ENST00000508053.1	-	31	4215	c.3241C>T	c.(3241-3243)Cct>Tct	p.P1081S	FBN2_ENST00000262464.4_Missense_Mutation_p.P1081S|FBN2_ENST00000508989.1_Missense_Mutation_p.P1048S			P35556	FBN2_HUMAN	fibrillin 2	1081	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACATCCCAGGAAATGCTTTG	0.403000													19	90					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098612	38098612	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:38098612G>A	ENST00000290399.6	+	6	1349	c.736G>A	c.(736-738)Gat>Aat	p.D246N	SIM2_ENST00000430056.3_Missense_Mutation_p.D246N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	246	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GATATTCCTGGATTCCAGGTG	0.557000													7	15					0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131902504	131902504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:131902504G>A	ENST00000368087.3	+	4	590	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Missense_Mutation_p.E151K|ARG1_ENST00000356962.2_Missense_Mutation_p.E159K			P05089	ARGI1_HUMAN	arginase 1	151					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	CCTCCTGAAGGAACTAAAAGG	0.423000													7	9					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834588	156834588	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:156834588G>C	ENST00000368196.3	+	3	476	c.356G>C	c.(355-357)cGc>cCc	p.R119P	NTRK1_ENST00000392302.2_Missense_Mutation_p.R89P|NTRK1_ENST00000358660.3_Missense_Mutation_p.R119P|NTRK1_ENST00000524377.1_Missense_Mutation_p.R119P	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	119					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R119H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGGCTCAGTCGCCTGTGAGTG	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			13	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586714	179586714	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179586714C>T	ENST00000589042.1	-	78	22900	c.22676G>A	c.(22675-22677)gGa>gAa	p.G7559E	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7242E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6315E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7242	Ig-like 57.						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)			TGTATAGTTTCCTCCAGGACG	0.418000													51	149					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627839	37627839	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:37627839C>T	ENST00000447079.4	+	2	1787	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	CDK12_ENST00000430627.2_Missense_Mutation_p.P585L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	585					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCAACTTTGCCCCCTTCTACT	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			77	172					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81046754	81046754	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:81046754C>T	ENST00000555265.1	-	20	3195	c.2820G>A	c.(2818-2820)gaG>gaA	p.E940E	CEP128_ENST00000281129.3_Silent_p.E940E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	940						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTTTGGGTCTCTTCCAGTA	0.343000													11	39					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335933	20335933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:20335933C>T	ENST00000377252.3	+	3	1301	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	154						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAATACTCATCGGCAAGCTGC	0.373000													16	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010676	9010676	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9010676C>T	ENST00000397910.4	-	38	39188	c.38985G>A	c.(38983-38985)ggG>ggA	p.G12995G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12997					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						AGGATGGAGTCCCTGAGGTCC	0.517000													8	26					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59146706	59146706	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59146706C>T	ENST00000559228.1	+	9	1845	c.1763C>T	c.(1762-1764)cCa>cTa	p.P588L	FAM63B_ENST00000450403.2_Missense_Mutation_p.P587L			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	588										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAAGCCTCTCCATCAAGTGGA	0.373000													21	50					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058189	43058189	+	Missense_Mutation	SNP	C	C	T	rs150776703		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43058189C>T	ENST00000316099.3	+	10	1398	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	HNF4A_ENST00000457232.1_Missense_Mutation_p.P405S|HNF4A_ENST00000415691.1_Missense_Mutation_p.P427S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	437					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACAGCCCTCACCGCCAGGTGG	0.612000													41	124					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941610	11941610	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:11941610T>C	ENST00000571133.1	-	3	371	c.299A>G	c.(298-300)aAg>aGg	p.K100R	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	100					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGGTTCATCCTTCGTAAATAA	0.363000													14	36					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996643	98996643	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:98996643C>T	ENST00000393504.1	+	4	638	c.221C>T	c.(220-222)tCg>tTg	p.S74L	CNGA3_ENST00000436404.2_Missense_Mutation_p.S74L|CNGA3_ENST00000409937.1_Missense_Mutation_p.S78L|CNGA3_ENST00000272602.2_Missense_Mutation_p.S74L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCAGGCTGTCGCGCCTCATC	0.607000													17	56					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51755594	51755594	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:51755594C>T	ENST00000251076.5	-	33	8192	c.7905G>A	c.(7903-7905)aaG>aaA	p.K2635K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.K2636K|DMXL2_ENST00000449909.3_Silent_p.K1999K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2635						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCTTTCTTTTCTTAGTGAAAA	0.313000													20	41					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18238593	18238593	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:18238593C>T	ENST00000229002.2	-	4	353	c.147G>A	c.(145-147)agG>agA	p.R49R	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Silent_p.R48R|RERGL_ENST00000538724.1_Silent_p.R48R	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	49	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTAGTTGTTTCCTTTCCAAAC	0.284000													14	35					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389812	1389812	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:1389812G>A	ENST00000378785.2	+	4	1305	c.310G>A	c.(310-312)Ggg>Agg	p.G104R		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	104							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGGCTGGGGAAGCCGTC	0.677000													5	8					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142500285	142500285	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142500285G>A	ENST00000430863.1	-	0	709					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CAGGAGCTCCGTCTCCAGATG	0.647000													12	18					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657116	46657116	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:46657116C>T	ENST00000253255.5	-	1	2103	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	702	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTAAAAAATCCTTCTTTTGA	0.388000													17	54					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28123281	28123281	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:28123281G>A	ENST00000304658.5	-	17	2698	c.2198C>T	c.(2197-2199)cCg>cTg	p.P733L	XPO6_ENST00000565698.1_Missense_Mutation_p.P719L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	733					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTTGGCCACGGAAGCAGCAA	0.587000													7	19					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970966	63970966	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:63970966C>T	ENST00000358794.5	+	13	2125	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	STIP1_ENST00000305218.4_Silent_p.N477N|STIP1_ENST00000538945.1_Silent_p.N453N			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	477	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CGCAGTACAACCGGCACGACA	0.592000													6	20					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178567	214178567	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:214178567C>T	ENST00000366958.4	+	3	2393	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PROX1_ENST00000498508.2_Silent_p.T595T|PROX1_ENST00000261454.4_Silent_p.T595T|PROX1_ENST00000435016.1_Silent_p.T595T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	595					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTTTATACCCGTTATCCCA	0.378000													11	85					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172417629	172417629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:172417629G>A	ENST00000367727.4	+	3	354	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	52										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGAAGAATATGAATTTGCCAA	0.333000													47	57					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980944	70980944	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70980944G>A	ENST00000334414.6	-	9	2198	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	PTPRB_ENST00000261266.5_Silent_p.S500S|PTPRB_ENST00000550358.1_Silent_p.S718S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.S410S|PTPRB_ENST00000551525.1_Silent_p.S717S|PTPRB_ENST00000451516.2_Silent_p.S410S|PTPRB_ENST00000538708.1_Silent_p.S500S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	500	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTCAGCTAGGGAAATGATGT	0.473000													10	36					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545253	82545253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82545253C>T	ENST00000423517.2	-	7	12386	c.12049G>A	c.(12049-12051)Gaa>Aaa	p.E4017K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4017K|PCLO_ENST00000437081.1_Missense_Mutation_p.E737K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3948					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTACTTCTTTCCTCCAAACCT	0.388000													52	145					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442673	138442673	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:138442673G>A	ENST00000344876.4	-	4	3304	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	PCDH18_ENST00000511115.1_Missense_Mutation_p.P153L|PCDH18_ENST00000510305.1_Missense_Mutation_p.P184L|PCDH18_ENST00000507846.1_Missense_Mutation_p.P752L|PCDH18_ENST00000412923.2_Missense_Mutation_p.P972L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	973	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATCTGCAGGCTGAGCGTC	0.493000													34	76					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847545	215847545	+	Missense_Mutation	SNP	G	G	A	rs141340831		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:215847545G>A	ENST00000366943.2	-	63	14094	c.13708C>T	c.(13708-13710)Cgt>Tgt	p.R4570C	USH2A_ENST00000307340.3_Missense_Mutation_p.R4570C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4570	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAGTTCACGGATGAAGAGG	0.393000										HNSCC(13;0.011)			35	201					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886972	55886972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:55886972G>A	ENST00000379662.1	+	1	826	c.826G>A	c.(826-828)Ggt>Agt	p.G276S	OR6C68_ENST00000548615.1_Missense_Mutation_p.G271S|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G276R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CATTAATAAAGGTGTGTCAGT	0.358000													9	46					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27120612	27120612	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:27120612C>T	ENST00000374145.1	+	3	769	c.87C>T	c.(85-87)ttC>ttT	p.F29F	PIGV_ENST00000449950.2_5'UTR|PIGV_ENST00000078527.4_Silent_p.F29F	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	29					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGCCCTCTTCAATGCCATCA	0.502000													8	53					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941060	22941060	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22941060T>C	ENST00000397104.3	-	5	1377	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A	ZNF99_ENST00000596209.1_Missense_Mutation_p.T551A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCATAAGGGTTGAGGAATTG	0.328000													18	51					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789222	111789222	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:111789222G>A	ENST00000389811.4	+	16	1614	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACOXL_ENST00000439055.1_Missense_Mutation_p.D434N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	464					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAAGAAGGAGGATTTTTTCCA	0.453000													26	52					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704450	69704450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:69704450C>T	ENST00000409014.1	+	10	1733	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	EXD2_ENST00000409018.3_Missense_Mutation_p.P484L|EXD2_ENST00000312994.5_Missense_Mutation_p.P484L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.P359L|EXD2_ENST00000409949.1_Missense_Mutation_p.P359L|EXD2_ENST00000409675.1_Missense_Mutation_p.P359L|EXD2_ENST00000409242.1_Missense_Mutation_p.P359L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	359					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCCAGGCCCCCATCGGCTCT	0.622000													5	14					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260132	30260132	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:30260132C>T	ENST00000359358.4	-	7	2026	c.1588_splice	c.e7+1	p.G530_splice		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	530						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AAAAAAAGACCTTTCAAATGA	0.353000													9	34					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429486	110429486	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:110429486A>T	ENST00000360185.4	-	2	296	c.132T>A	c.(130-132)caT>caA	p.H44Q	GIT2_ENST00000551209.1_Missense_Mutation_p.H44Q|GIT2_ENST00000547815.1_Missense_Mutation_p.H44Q|GIT2_ENST00000553118.1_Missense_Mutation_p.H44Q|GIT2_ENST00000338373.5_Missense_Mutation_p.H44Q|GIT2_ENST00000320063.9_Missense_Mutation_p.H44Q|GIT2_ENST00000457474.2_Missense_Mutation_p.H44Q|GIT2_ENST00000356259.4_Missense_Mutation_p.H44Q|GIT2_ENST00000355312.3_Missense_Mutation_p.H44Q|GIT2_ENST00000354574.4_Missense_Mutation_p.H44Q|GIT2_ENST00000343646.5_Missense_Mutation_p.H44Q|GIT2_ENST00000361006.5_Missense_Mutation_p.H44Q			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	44	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTGGGAGATATGGCGCCCTA	0.463000													21	65					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108618424	108618424	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:108618424A>T	ENST00000264047.2	+	6	945	c.669A>T	c.(667-669)aaA>aaT	p.K223N	SLC5A7_ENST00000409059.1_Missense_Mutation_p.K223N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.K118N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	223					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGCATGCCAAATACCAAAAGC	0.478000													16	53					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674919	9674919	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:9674919C>A	ENST00000330255.4	-	6	837	c.825G>T	c.(823-825)atG>atT	p.M275I	DHRS7C_ENST00000571134.1_Missense_Mutation_p.M274I	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	275						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTTGGCCATAAACACCT	0.587000													5	19					0.217242	0.217378	1	1	0
RBM15	64783	broad.mit.edu	37	1	110884746	110884746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:110884746C>T	ENST00000369784.3	+	1	3619	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	RBM15_ENST00000602849.1_Missense_Mutation_p.P907S|RBM15_ENST00000487146.2_Missense_Mutation_p.P907S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	907	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATCAGCCTCCCTGTGGGGGG	0.547000			T	MKL1	acute megakaryocytic leukemia								26	72					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934204	69934204	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:69934204C>T	ENST00000358913.5	+	11	2843	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	MYPN_ENST00000354393.2_Silent_p.L510L|MYPN_ENST00000540630.1_Silent_p.L785L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	785	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATGAGCCACTCCCACCAGGCC	0.517000													19	51					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806314	6806314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6806314G>A	ENST00000307401.4	+	1	67	c.46G>A	c.(46-48)Ggg>Agg	p.G16R		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTTTGGTGGGGATTCTGAA	0.453000													19	36					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209086	140209086	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140209086G>A	ENST00000529310.1	+	1	1524	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P470P|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCGGGCTGCCACA	0.662000													29	46					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976635	24976635	+	Missense_Mutation	SNP	C	C	T	rs5246	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24976635C>T	ENST00000250378.3	-	2	165	c.136G>A	c.(136-138)Ggt>Agt	p.G46S	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	46	Peptidase S1.		G -> R (in dbSNP:rs5246).		interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTGAGGGACCGTTGGAAGTT	0.512000													50	129					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135054	128135054	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:128135054G>A	ENST00000368250.1	-	5	993	c.495C>T	c.(493-495)atC>atT	p.I165I	THEMIS_ENST00000537166.1_Silent_p.I209I|THEMIS_ENST00000543064.1_Silent_p.I244I|THEMIS_ENST00000368248.2_Silent_p.I244I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	244	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GACTGGGGAGGATGCGGATTA	0.348000													28	44					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217541	51217541	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51217541A>G	ENST00000293441.1	-	4	556	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	SHANK1_ENST00000359082.3_Silent_p.L180L|SHANK1_ENST00000391814.1_Silent_p.L180L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	180					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AACTTCTTCAACCCCGTCTGA	0.562000													4	14					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819894	159819894	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:159819894G>A	ENST00000497452.1	-	0	517																											CAGCAAGGATGATTCTGATTT	0.403000													18	34					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96131740	96131740	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:96131740G>A	ENST00000343702.4	-	3	1216	c.768C>T	c.(766-768)ttC>ttT	p.F256F	NTN4_ENST00000553059.1_Silent_p.F256F|NTN4_ENST00000344911.4_Silent_p.F219F|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000538383.1_Silent_p.F219F	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	256	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCTTGACAATGAAATCATAGA	0.488000													9	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582947	82582947	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82582947T>A	ENST00000423517.2	-	5	7659	c.7322A>T	c.(7321-7323)aAa>aTa	p.K2441I	PCLO_ENST00000333891.8_Missense_Mutation_p.K2441I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2372	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTAACTTTTTTTTAGGAAG	0.502000													3	13					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83221347	83221347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83221347G>A	ENST00000562833.1	-	4	286	c.287C>T	c.(286-288)tCg>tTg	p.S96L	CPEB1_ENST00000450751.2_Silent_p.F286F|CPEB1_ENST00000423133.2_Silent_p.F286F|CPEB1_ENST00000398591.2_Silent_p.F291F|CPEB1_ENST00000398592.2_Silent_p.F135F|CPEB1_ENST00000261723.6_Silent_p.F364F|CPEB1_ENST00000564522.1_Silent_p.F286F|CPEB1_ENST00000568757.1_Silent_p.F286F|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Silent_p.F361F|CPEB1_ENST00000563800.1_Silent_p.F388F|CPEB1_ENST00000562019.1_Silent_p.F366F																							TCTCTAGTTCGAAGACCAGAT	0.493000													25	66					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582527	55582527	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55582527C>T	ENST00000361849.3	-	34	5359	c.4965G>A	c.(4963-4965)ttG>ttA	p.L1655L	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.L1650L|PCDH15_ENST00000437009.1_Silent_p.L1584L|PCDH15_ENST00000320301.6_Silent_p.L1653L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1630L|PCDH15_ENST00000395432.2_Silent_p.L1613L|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1653					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAGAGATTTCAACTGTTCTG	0.413000										HNSCC(58;0.16)			31	94					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029348	37029348	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:37029348A>G	ENST00000358047.3	+	1	2917	c.2865A>G	c.(2863-2865)gaA>gaG	p.E955E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	955										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GAAGTGATGAACCTTTGATTG	0.443000													77	85					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902315	16902315	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16902315G>A	ENST00000524140.2	+	14	3513	c.3095G>A	c.(3094-3096)gGa>gAa	p.G1032E	NWD1_ENST00000339803.6_Missense_Mutation_p.G897E|NWD1_ENST00000379808.3_Missense_Mutation_p.G1032E|NWD1_ENST00000523826.1_Missense_Mutation_p.G826E|NWD1_ENST00000549814.1_Missense_Mutation_p.G1032E|NWD1_ENST00000552788.1_Missense_Mutation_p.G1032E	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1032							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGCTACGGGAAAACTTCAG	0.547000													18	58					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622547	108622547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:108622547C>T	ENST00000264047.2	+	7	1060	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L262F|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L157F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	262					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCAGAGGGTTCTCTCTTCTTC	0.502000													30	62					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298103	62298103	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:62298103A>G	ENST00000378024.4	-	5	4060	c.3786T>C	c.(3784-3786)ttT>ttC	p.F1262F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1262					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGCTAAACTTGGGCA	0.512000													164	240					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47588883	47588883	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:47588883C>T	ENST00000371917.4	+	11	1446	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	482					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGAGATTTTCCTGAACATTT	0.418000													11	44					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212736	10212736	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10212736C>T	ENST00000418404.3	-	34	5147	c.4984G>A	c.(4984-4986)Gat>Aat	p.D1662N	MYH13_ENST00000570743.1_Missense_Mutation_p.D1662N|MYH13_ENST00000252172.4_Missense_Mutation_p.D1662N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1662					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGGCGTCATCGAGATGCAGC	0.662000													3	5					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097085	107097085	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:107097085G>A	ENST00000261058.1	+	1	898	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	217								p.M217I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCCCCAAATGAAAACTCTGA	0.393000													40	85					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104569810	104569810	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:104569810C>T	ENST00000369889.4	+	3	433	c.292_splice	c.e3+1	p.F97_splice	WBP1L_ENST00000448841.1_Splice_Site_p.F118_splice	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	97						integral to membrane											CATTTTATTTCAGTACGTACA	0.567000													33	73					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169758955	169758955	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:169758955G>A	ENST00000375363.3	+	2	311	c.218_splice	c.e2-1	p.W73_splice	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000429379.2_Splice_Site_p.W73_splice	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	73					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TTAAATACAGGATATTATTTG	0.333000													20	47					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770177	53770177	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:53770177G>A	ENST00000311170.4	-	1	795	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	248					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGGCAGGAGAGAGTGTAAGAA	0.473000										HNSCC(26;0.072)			8	24					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106221338	106221338	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:106221338G>A	ENST00000355610.4	-	8	1302	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	MORC4_ENST00000255495.7_Missense_Mutation_p.S343F|MORC4_ENST00000535534.1_Missense_Mutation_p.S91F	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	343							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCTCAAAAGATTTTATGAG	0.383000													62	98					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470176	10470176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10470176C>T	ENST00000382483.3	-	4	1655	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	478					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCACCCCGTCCTCCGGGGTC	0.692000													18	32					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270401	28270401	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:28270401A>G	ENST00000305242.5	-	7	1022	c.930T>C	c.(928-930)tcT>tcC	p.S310S	ARMC4_ENST00000239715.3_Silent_p.S167S|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.S2S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	310							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTACCAATTTAGACATATTTT	0.274000													12	39					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038151	34038151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34038151C>T	ENST00000373381.4	-	50	7893	c.7717G>A	c.(7717-7719)Gac>Aac	p.D2573N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2575	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCCTGTGTCCAGACACTCT	0.597000													27	95					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64148254	64148254	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:64148254G>A	ENST00000395254.3	+	3	1123	c.843G>A	c.(841-843)cgG>cgA	p.R281R	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Silent_p.R281R|ZNF365_ENST00000410046.3_Silent_p.R281R	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTTACAGCGGGTAGAACTGG	0.557000													15	41					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229649	38229649	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:38229649G>A	ENST00000339503.4	-	8	2069	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	ZNF573_ENST00000392138.1_Missense_Mutation_p.P494L|ZNF573_ENST00000590414.2_Missense_Mutation_p.P581L|ZNF573_ENST00000357309.3_Missense_Mutation_p.P493L|ZNF573_ENST00000536220.1_Missense_Mutation_p.P493L	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACATTCATAGGGTTTTTTATC	0.368000													26	65					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762474	24762474	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:24762474A>G	ENST00000376451.2	+	2	578	c.318A>G	c.(316-318)agA>agG	p.R106R	KIAA1217_ENST00000396445.1_Silent_p.R106R|KIAA1217_ENST00000376454.3_Silent_p.R388R|KIAA1217_ENST00000430453.2_Silent_p.R309R|KIAA1217_ENST00000376452.3_Silent_p.R388R|KIAA1217_ENST00000376462.1_Silent_p.R308R|KIAA1217_ENST00000307544.6_Silent_p.R106R|KIAA1217_ENST00000396446.1_Silent_p.R106R|KIAA1217_ENST00000458595.1_Silent_p.R388R			Q5T5P2	SKT_HUMAN	KIAA1217	388					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAATGTACAGAAATGAGGGTT	0.488000													28	97					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156518	22156518	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22156518G>A	ENST00000397126.4	-	4	1466	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378000													24	55					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812564	109812564	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:109812564A>G	ENST00000271332.3	+	23	7178	c.7117A>G	c.(7117-7119)Atc>Gtc	p.I2373V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2373					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAATGGGGAGATCCTGCCACT	0.612000													25	71					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76232512	76232512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:76232512G>A	ENST00000298832.9	+	20	2021	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	TTLL5_ENST00000554510.1_Missense_Mutation_p.E115K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E157K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E620K|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	606					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCCAGGAGGAGTCTGCAGG	0.408000													11	40					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221805	140221805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140221805G>A	ENST00000531613.1	+	1	899	c.899G>A	c.(898-900)gGa>gAa	p.G300E	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G300E|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATACGGGAGAAATAGTG	0.413000													28	49					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291766	56291766	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:56291766T>C	ENST00000374928.3	+	4	721	c.235T>C	c.(235-237)Ttc>Ctc	p.F79L	KLF8_ENST00000468660.1_Missense_Mutation_p.F79L	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GGCTAGTGATTTCAGCCTGCC	0.517000													5	11					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169846139	169846139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:169846139G>A	ENST00000335742.7	+	20	4100	c.2743G>A	c.(2743-2745)Gga>Aga	p.G915R	PALLD_ENST00000507735.1_Missense_Mutation_p.G586R|PALLD_ENST00000261509.6_Missense_Mutation_p.G1073R|PALLD_ENST00000505667.1_Missense_Mutation_p.G1090R|PALLD_ENST00000512127.1_Missense_Mutation_p.G691R|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1297					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTCATTCAGGGAGCCACAAA	0.473000									Pancreatic Cancer, Familial Clustering of				23	54					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497419	149497419	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:149497419C>T	ENST00000378016.2	+	0	7177							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGTGTGGCCCCGGCCAGAC	0.682000													4	5					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880378	24880378	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24880378C>T	ENST00000382554.3	+	5	2829	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	837					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTTTGTACCCACCTGGCAGC	0.582000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	107					0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45053174	45053174	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:45053174G>A	ENST00000291560.2	-	5	751	c.420C>T	c.(418-420)gtC>gtT	p.V140V	HSF2BP_ENST00000542962.1_Silent_p.V65V	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	140					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGGCCTTGACGACTTCCTCAC	0.473000													26	50					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565118	11565118	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:11565118G>A	ENST00000304623.8	-	3	414	c.225C>T	c.(223-225)atC>atT	p.I75I	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I75I|CTNND2_ENST00000511377.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	75					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCTGGCTACGATCTGCCGTT	0.512000													12	32					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536035	6536035	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:6536035C>T	ENST00000377748.1	-	4	833	c.336G>A	c.(334-336)gtG>gtA	p.V112V	PLEKHG5_ENST00000377732.1_Silent_p.V72V|PLEKHG5_ENST00000377725.1_Silent_p.V35V|PLEKHG5_ENST00000377737.2_Silent_p.V35V|PLEKHG5_ENST00000377728.3_Silent_p.V35V|PLEKHG5_ENST00000400913.1_Silent_p.V35V|PLEKHG5_ENST00000544978.1_Silent_p.V35V|PLEKHG5_ENST00000537245.1_Silent_p.V114V|PLEKHG5_ENST00000340850.5_Silent_p.V35V|PLEKHG5_ENST00000400915.3_Silent_p.V91V|PLEKHG5_ENST00000377740.3_Silent_p.V112V|PLEKHG5_ENST00000535355.1_Silent_p.V104V	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCAAGTCCACTGCGGGGC	0.667000											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	45					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404443	10404443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10404443G>A	ENST00000226207.5	-	27	3816	c.3722C>T	c.(3721-3723)aCt>aTt	p.T1241I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1241						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGGAGACAGTCTCCATGTT	0.418000													35	92					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:185229341C>T	ENST00000296252.4	-	9	1380	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_ENST00000424591.2_Missense_Mutation_p.M379I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000													21	83					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185208	71185208	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71185208C>T	ENST00000234396.4	+	3	280	c.207C>T	c.(205-207)acC>acT	p.T69T	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.T69T	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	69					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCACTTCACCCTCCCAGATG	0.592000													5	18					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521038	40521038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:40521038C>T	ENST00000347077.4	+	7	2077	c.1861C>T	c.(1861-1863)Caa>Taa	p.Q621*	ZNF546_ENST00000600094.1_Nonsense_Mutation_p.Q595*|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCGATTTCAAACAGAACT	0.363000													18	32					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030860	10030860	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:10030860G>A	ENST00000378380.3	+	6	1972	c.1643_splice	c.e6+1	p.G548_splice	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Splice_Site_p.G548_splice|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CTTGAAAAAGGGTACGCGTCT	0.403000													12	39					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159636160	159636160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:159636160G>A	ENST00000297267.9	+	5	844	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R215Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	215	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGATGAACGGACACACGAA	0.438000													15	34					0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116528214	116528214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:116528214C>T	ENST00000361183.2	+	2	212	c.73C>T	c.(73-75)Cct>Tct	p.P25S	CAPZA2_ENST00000490693.1_Missense_Mutation_p.P25S|CAPZA2_ENST00000458284.2_Missense_Mutation_p.P25S	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	25					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CATTCATGCCCCTCCTGGAGA	0.343000													9	43					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911949	46911949	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:46911949G>A	ENST00000378623.1	-	14	2036	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	598					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATTGGGCCAGAAGAGATGGG	0.577000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	35					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516404	27516404	+	Silent	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:27516404G>T	ENST00000301904.3	+	5	737	c.717G>T	c.(715-717)cgG>cgT	p.R239R	SCARA3_ENST00000337221.4_Silent_p.R239R	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	239					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGATCCAGCGGAAGACAGACG	0.592000													13	35					1.05317e-09	1.06517e-09	1	1	0
POLR3H	171568	broad.mit.edu	37	22	41936800	41936800	+	Splice_Site	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:41936800C>A	ENST00000355209.4	-	2	455		c.e2-1		POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000407461.1_Splice_Site|POLR3H_ENST00000337566.5_Splice_Site|POLR3H_ENST00000396504.2_Splice_Site	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)						innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTACACGACCTGCATGCATA	0.517000													17	72					2.48551e-13	2.52501e-13	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51679161	51679161	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:51679161C>T	ENST00000409535.1	+	16	2697	c.2572C>T	c.(2572-2574)Ccc>Tcc	p.P858S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P552S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	858	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCAGAAAAAGCCCTGTTACAT	0.502000													9	21					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118651913	118651913	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:118651913C>T	ENST00000392533.3	-	10	1136	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	TAOK3_ENST00000419821.2_Missense_Mutation_p.E216K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	216	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTCCGTTCCGCTGGAAGA	0.423000													12	41					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283618	40283618	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:40283618G>A	ENST00000325157.6	-	2	385	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	45	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AAATTGTGTTGAAAGTCAAGT	0.423000													38	102					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37195974	37195974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:37195974G>A	ENST00000274258.7	-	21	4027	c.440C>T	c.(439-441)tCc>tTc	p.S147F	C5orf42_ENST00000508244.1_Missense_Mutation_p.S1266F|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1266F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1266										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTCTAATGGAAACTTCATC	0.368000													11	46					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347592	113347592	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:113347592G>A	ENST00000297405.5	-	45	7375	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F	CSMD3_ENST00000352409.3_Silent_p.F2307F|CSMD3_ENST00000343508.3_Silent_p.F2337F|CSMD3_ENST00000455883.2_Silent_p.F2273F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2377	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTGTTGTGAAATCACTGT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	35					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097817	20097817	+	Missense_Mutation	SNP	G	G	A	rs142352343		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:20097817G>A	ENST00000294543.6	-	5	579	c.338C>T	c.(337-339)cCg>cTg	p.P113L	TMCO4_ENST00000375127.1_Missense_Mutation_p.P113L|TMCO4_ENST00000375122.2_Missense_Mutation_p.P113L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	113						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATCACCGTCGGGTCGTCCTT	0.483000													37	79					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307834	113307834	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113307834G>A	ENST00000389385.4	+	10	1283	c.786G>A	c.(784-786)cgG>cgA	p.R262R	RPH3A_ENST00000551052.1_Silent_p.R258R|RPH3A_ENST00000548866.1_Silent_p.R213R|RPH3A_ENST00000447659.2_Silent_p.R213R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.R262R|RPH3A_ENST00000420983.2_Silent_p.R262R|RPH3A_ENST00000415485.3_Silent_p.R262R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	262	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACTCCAGCCGGAGCCCAGCAG	0.547000													8	28					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857043	210857043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:210857043C>T	ENST00000367007.4	-	11	2638	c.2469G>A	c.(2467-2469)tgG>tgA	p.W823*	KCNH1_ENST00000271751.4_Nonsense_Mutation_p.W850*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	850					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACACCTTGTTCCAGTCCTCAC	0.607000													65	70					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787882	38787882	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38787882G>A	ENST00000348513.6	-	9	1558	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	SMARCE1_ENST00000431889.2_Silent_p.L242L|SMARCE1_ENST00000400122.3_Silent_p.L190L|SMARCE1_ENST00000580419.1_Silent_p.L225L|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Silent_p.L190L|SMARCE1_ENST00000377808.4_Silent_p.L225L|SMARCE1_ENST00000578044.1_Silent_p.L190L	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	260					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GTGCTTTCCAGGAATTTCCTC	0.348000													15	53					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328341	160328341	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160328341G>A	ENST00000252660.4	+	1	368	c.354G>A	c.(352-354)acG>acA	p.T118T		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	118					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.T118T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCTACAACACGGGCCTCTATC	0.478000													50	65					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954316	75954316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:75954316C>T	ENST00000274364.6	+	21	2650	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C	IQGAP2_ENST00000502745.1_Missense_Mutation_p.R281C|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R281C|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R287C	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	785					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACAGTAATTCGCAAATTTGT	0.413000													16	61					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247612	50247612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50247612C>T	ENST00000246801.3	-	8	1319	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	TSKS_ENST00000358830.3_Missense_Mutation_p.G213R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	413							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCCCAGCCCCTCCAGTTCG	0.587000													7	39					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058417	152058417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152058417C>T	ENST00000368806.1	-	3	1805	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	581							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGACTCTCCATGTTGGTCC	0.537000													48	214					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681814	91681814	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681814C>T	ENST00000518868.1	+	16	2320	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	C14orf159_ENST00000428926.2_Missense_Mutation_p.H539Y|C14orf159_ENST00000256324.10_Missense_Mutation_p.H544Y|C14orf159_ENST00000525393.2_Missense_Mutation_p.H415Y|C14orf159_ENST00000412671.2_Missense_Mutation_p.H544Y|C14orf159_ENST00000523816.1_Missense_Mutation_p.H539Y|C14orf159_ENST00000523771.1_Missense_Mutation_p.H539Y|C14orf159_ENST00000522322.1_Missense_Mutation_p.H539Y|C14orf159_ENST00000521077.2_Missense_Mutation_p.H504Y|C14orf159_ENST00000520328.1_Missense_Mutation_p.H487Y			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	539						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ATGTGCTGTCCACAGTCAGTA	0.547000													17	61					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798249	38798249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:38798249G>A	ENST00000308979.2	-	4	2477	c.2204C>T	c.(2203-2205)cCg>cTg	p.P735L	TLR1_ENST00000502213.2_Missense_Mutation_p.P735L	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	735	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGAGTACTGCGGAATGGGTTC	0.443000													35	122					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381722	30381722	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:30381722C>T	ENST00000340513.4	+	15	2217	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	TPX2_ENST00000300403.6_Silent_p.I527I			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	527					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGCCCCAAATCCCAGAGGCAA	0.418000													61	147					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522285	144522285	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:144522285G>A	ENST00000262577.5	-	11	2772	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	914					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGACTGCAGGGAGATGAAGGA	0.682000													4	7					0	0	1	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716843	13716843	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:13716843G>A	ENST00000376098.4	+	2	356	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	110										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTTGATGGGAATTTCTGGA	0.537000													36	82					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699758	17699758	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:17699758G>A	ENST00000353383.1	+	3	3965	c.3496G>A	c.(3496-3498)Ggc>Agc	p.G1166S	RAI1_ENST00000261641.6_Missense_Mutation_p.G1166S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1166						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCCTCTGAGGGCCGGCTCCC	0.642000													19	42					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822407	26822407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26822407G>A	ENST00000376236.4	+	9	1308	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	285					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAAGCAAGGAAACTAATGA	0.333000													7	27					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996273	34996273	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:34996273G>C	ENST00000541010.1	+	2	3235	c.223G>C	c.(223-225)Ggc>Cgc	p.G75R	DNAJB5_ENST00000312316.5_Missense_Mutation_p.G75R|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G109R|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G147R|DNAJB5_ENST00000453597.3_Missense_Mutation_p.G189R|DNAJB5_ENST00000545841.1_Missense_Mutation_p.G75R			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	75					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAAGACCGGCGGTGGCAC	0.592000													7	29					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105748	233105748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:233105748C>T	ENST00000366627.4	+	4	459	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	NTPCR_ENST00000366628.4_Missense_Mutation_p.R130C|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	130							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						TCAAGCTGTTCGTCAGACGCT	0.498000													22	127					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498703	246498703	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:246498703G>A	ENST00000490107.1	-	3	341	c.125C>T	c.(124-126)tCc>tTc	p.S42F	SMYD3_ENST00000403792.3_Missense_Mutation_p.S101F|SMYD3_ENST00000541742.1_Missense_Mutation_p.S42F|SMYD3_ENST00000388985.4_Missense_Mutation_p.S101F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	101						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGTCGAACGGAGTCTGGAGG	0.398000													33	152					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087331	55087331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55087331G>A	ENST00000251377.3	+	7	1143	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G337E|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G337E|LILRA2_ENST00000391737.1_Missense_Mutation_p.G325E					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)		GTAGCCCCAGGAAAGAACGTG	0.592000													17	46					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553550	39553550	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39553550T>A	ENST00000251645.2	-	1	294	c.242A>T	c.(241-243)aAc>aTc	p.N81I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	81	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCTCCGCGTTGTCCCGCTC	0.587000													39	60					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605505	171605505	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:171605505C>T	ENST00000037502.5	-	3	1134	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	359	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCAGGGATTTCCTTCTCAGCC	0.537000													61	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463295	179463295	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179463295C>T	ENST00000589042.1	-	292	57273	c.57049G>A	c.(57049-57051)Gga>Aga	p.G19017R	TTN_ENST00000359218.5_Missense_Mutation_p.G10077R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17376R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9952R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16449R|TTN_ENST00000342175.6_Missense_Mutation_p.G10144R|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17376	Fibronectin type-III 37.						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)			ACTTTGGATCCACCATCTTTT	0.433000													7	37					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113413	117113413	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:117113413G>A	ENST00000310357.3	-	6	2694	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	GPRC6A_ENST00000368549.3_Silent_p.T820T|GPRC6A_ENST00000530250.1_Silent_p.T716T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	891					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTCTGCCAGGTTGCAGACT	0.473000													7	98					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:72190946G>A	ENST00000356056.5	-	25	4370	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000566885.1_Missense_Mutation_p.P920S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1281S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000													40	94					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772539	33772539	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33772539A>G	ENST00000285013.6	-	3	436	c.161T>C	c.(160-162)tTa>tCa	p.L54S	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.L54S|SLFN13_ENST00000542635.1_Missense_Mutation_p.L54S|SLFN13_ENST00000533791.1_Missense_Mutation_p.L54S|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	54						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCTGAGTTTAATAAAGCACA	0.468000													51	120					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22849069	22849069	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22849069C>T	ENST00000283645.4	+	10	1246	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	TUBGCP5_ENST00000453949.2_Silent_p.F372F|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	372					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACAAATATTTCATTAGTTTCA	0.393000													10	30					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65046257	65046257	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:65046257C>T	ENST00000265465.3	+	6	1049	c.518C>T	c.(517-519)tCc>tTc	p.S173F	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	173					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GTGGTTACCTCCTTCGGCTTA	0.478000													50	77					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33648215	33648215	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:33648215C>T	ENST00000374316.5	+	33	5394	c.4334C>T	c.(4333-4335)aCc>aTc	p.T1445I	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1445I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1445					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGAACTTCACCCTGGACATG	0.607000													9	51					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165175	139165175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:139165175C>A	ENST00000395297.1	-	13	1713	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	515										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATTCATCTTCAGGCACACCT	0.463000										HNSCC(54;0.14)			42	77					2.68985e-26	2.74306e-26	1	1	0
ZNF713	349075	broad.mit.edu	37	7	56007100	56007100	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:56007100A>G	ENST00000429591.2	+	4	732	c.694A>G	c.(694-696)Aat>Gat	p.N232D	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAAATCTTCAATCAACATAT	0.398000													11	58					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129120679	129120679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:129120679C>T	ENST00000326639.6	+	16	2300	c.2089C>T	c.(2089-2091)Cct>Tct	p.P697S	LARP1B_ENST00000441387.1_Missense_Mutation_p.P697S|LARP1B_ENST00000264584.5_Missense_Mutation_p.P638S|LARP1B_ENST00000354456.3_Missense_Mutation_p.P116S|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	697							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTTCCAGCATCCTTCTCATGA	0.433000													25	45					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014031	21014031	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:21014031G>A	ENST00000247986.2	-	8	2098	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	KIF17_ENST00000400463.3_Silent_p.L596L|KIF17_ENST00000375044.1_Silent_p.L496L|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	596					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTCTTGCGGGAGGTAGTTCT	0.647000													12	17					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124512	71124512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:71124512G>A	ENST00000299213.8	-	3	1425	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	452					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGAGAGCAGGGGACTCGTACC	0.627000													32	86					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285000	58285000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:58285000C>T	ENST00000249750.4	-	7	1468	c.701G>A	c.(700-702)gGg>gAg	p.G234E	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G205E|ALDH1A2_ENST00000347587.3_Intron|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G213E|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G138E	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	234					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTGATGACCCCGGGAGGAAA	0.478000													27	78					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128553	152128553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152128553G>A	ENST00000316073.3	-	3	1086	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	341	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGACC	0.498000													589	802					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240019	27240019	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:27240019A>T	ENST00000577226.1	-	9	1916	c.1570T>A	c.(1570-1572)Tct>Act	p.S524T	PHF12_ENST00000332830.4_Missense_Mutation_p.S524T|PHF12_ENST00000268756.3_Missense_Mutation_p.S524T|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	524	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCCGCACAAGAACTGCAGCCG	0.572000													33	72					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712223	21712223	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21712223C>T	ENST00000388958.3	+	10	856	c.855C>T	c.(853-855)atC>atT	p.I285I	OTOA_ENST00000388956.4_Silent_p.I206I|OTOA_ENST00000286149.4_Silent_p.I285I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	285					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGCTGTTTATCAGCTATGACA	0.552000													24	45					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389042	119389042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:119389042C>T	ENST00000326624.2	+	2	2000	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S591F	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	591	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCATGCAGGTCTTTACAAATC	0.368000													35	60					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61468711	61468711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:61468711G>A	ENST00000398571.2	-	53	6837	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAACTCTGACGAAACATCAAA	0.328000													7	18					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928373	137928373	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:137928373C>T	ENST00000409968.1	+	7	1766	c.1588C>T	c.(1588-1590)Cat>Tat	p.H530Y	THSD7B_ENST00000272643.3_Missense_Mutation_p.H530Y|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.H499Y|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATTGCCCTCATTTGGTGGA	0.488000													10	37					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75277070	75277070	+	Silent	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:75277070T>G	ENST00000325680.7	+	9	5299	c.5175T>G	c.(5173-5175)gtT>gtG	p.V1725V	YLPM1_ENST00000552421.1_Silent_p.V1019V|YLPM1_ENST00000238571.3_Silent_p.V1530V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCGTGGTGTTATTGACTATG	0.418000													35	81					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304141	41304141	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41304141C>T	ENST00000347132.5	+	14	2116	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	KCNQ4_ENST00000509682.2_Silent_p.S624S|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	678					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGACATCTCCGTCTCCGCAC	0.672000													32	83					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134343098	134343098	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:134343098C>T	ENST00000357304.4	+	12	1924	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	PRRC2B_ENST00000405995.1_Silent_p.S623S|PRRC2B_ENST00000458550.1_Silent_p.S623S|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	623	Gln-rich.						protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATCAGAAGTCCCTTCCTCCCC	0.557000													12	8					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328211	57328211	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57328211C>T	ENST00000326441.9	-	10	1962	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.V407V|PEG3_ENST00000423103.2_Silent_p.V533V|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.V409V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	533					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTACATTCCACAAGATAAC	0.448000													38	137					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733748	92733748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:92733748G>A	ENST00000379958.2	-	3	1932	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	555						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAATGAGGGGATCTCTTGGG	0.403000													40	82					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228162509	228162509	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:228162509C>T	ENST00000396578.3	+	42	3847	c.3685C>T	c.(3685-3687)Ctg>Ttg	p.L1229L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1229	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCCACCAGGTCTGCCCGGTGC	0.557000													3	9					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299173	125299173	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:125299173G>A	ENST00000538699.1	-	2	815	c.735C>T	c.(733-735)atC>atT	p.I245I	DCAF12L2_ENST00000360028.2_Silent_p.I245I	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	245										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCTCGGACGGATGTGGGCAT	0.647000													12	14					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961150	1961150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:1961150C>T	ENST00000217305.2	-	4	809	c.584G>A	c.(583-585)gGg>gAg	p.G195E	PDYN_ENST00000540134.1_Missense_Mutation_p.G195E|PDYN_ENST00000539905.1_Missense_Mutation_p.G195E|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATGCTATCCCCGTCCCCCTC	0.592000													39	74					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189907882	189907882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:189907882G>A	ENST00000374866.3	-	48	3740	c.3466C>T	c.(3466-3468)Cct>Tct	p.P1156S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1156					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTACAGGAGGGCCAGGAAGA	0.463000													8	15					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20842626	20842626	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20842626G>A	ENST00000262715.5	-	44	6473	c.6433C>T	c.(6433-6435)Ctg>Ttg	p.L2145L	TEP1_ENST00000545983.1_Silent_p.L483L|TEP1_ENST00000556935.1_Silent_p.L2037L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2145					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGATGACCCAGGAACTGACCA	0.577000													14	19					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153761231	153761231	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:153761231G>A	ENST00000393562.2	-	9	1450	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	G6PD_ENST00000393564.2_Missense_Mutation_p.P326L|G6PD_ENST00000369620.2_Missense_Mutation_p.P372L	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	326					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACCGTGGGGTCGTCCAG	0.622000													28	40					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897020	29897020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:29897020G>A	ENST00000308713.5	-	8	1786	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S350L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S306L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S376L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	420	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCATGTCCGAATCATAGAT	0.602000													13	39					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41753881	41753881	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41753881T>C	ENST00000265709.8	-	1	399	c.118A>G	c.(118-120)Aag>Gag	p.K40E		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	465	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTTCTTCTTTCGGTCACGG	0.652000													7	30					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9260155	9260155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:9260155C>T	ENST00000318602.7	-	8	1151	c.844G>A	c.(844-846)Gat>Aat	p.D282N		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	282					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCTGTGAATCTTCACCGTGG	0.438000													10	53					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4722448	4722448	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:4722448C>T	ENST00000263088.6	+	22	2374	c.2243C>T	c.(2242-2244)cCc>cTc	p.P748L	PLD2_ENST00000572940.1_Missense_Mutation_p.P748L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	748	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.P748L(4)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGCGGGCACCCCGTCTCGGAG	0.597000													18	37					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293339	118293339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:118293339C>T	ENST00000425217.1	-	3	333	c.279G>A	c.(277-279)atG>atA	p.M93I	KSR2_ENST00000339824.5_Missense_Mutation_p.M122I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	122					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCATCCGTCATCTCCAAGA	0.602000													22	53					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593610	55593610	+	Missense_Mutation	SNP	T	T	C	rs121913517		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:55593610T>C	ENST00000288135.5	+	11	1773	c.1676T>C	c.(1675-1677)gTt>gCt	p.V559A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	559			Missing (in GIST).|Missing (in GIST; somatic mutation).|V -> A (in GIST).|V -> D (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V559D(58)|p.V559del(18)|p.W557_E561del(17)|p.V559A(16)|p.V559G(12)|p.K558_E562del(10)|p.W557_V559>C(9)|p.V559_E561del(8)|p.W557_V559del(7)|p.Q556_V560del(6)|p.V559_V560del(6)|p.K558_V560del(5)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.K558_V559>N(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.K558_V560>N(2)|p.K558_V559>SS(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.K558_V560>I(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.Q556_V559>H(1)|p.V559K(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.Q556_E561del(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.V559_E562del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_G565>R(1)|p.V559_P573>A(1)|p.K558_V560>M(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGTGGAAGGTTGTTGAGGAG	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				15	63					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591852	124591852	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:124591852A>C	ENST00000368904.1	-	11	2715	c.1766T>G	c.(1765-1767)gTg>gGg	p.V589G	CUZD1_ENST00000545804.1_Missense_Mutation_p.V589G|CUZD1_ENST00000392790.1_Missense_Mutation_p.V589G			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	589					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAATGCCTCACTGTGATTGT	0.443000													65	153					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250705	43250705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43250705G>A	ENST00000259750.4	+	14	2310	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	743	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ggaagatgaggaagaggaaga	0.577000													9	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442846	179442846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179442846C>T	ENST00000589042.1	-	322	68620	c.68396G>A	c.(68395-68397)aGg>aAg	p.R22799K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13859K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21158K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13734K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20231K|TTN_ENST00000342175.6_Missense_Mutation_p.R13926K|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21158	Ig-like 117.						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)			GTCTCTCATCCTTATCGGAGT	0.413000													25	59					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59155891	59155891	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:59155891G>A	ENST00000589222.1	+	21	2395		c.e21+1		BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACAGTCTCAGGTAGGAAATGA	0.403000													8	31					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41919927	41919927	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:41919927C>T	ENST00000396512.3	+	12	1556	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ACO2_ENST00000216254.4_Silent_p.A488A			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	488					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						AGACCCATGCCTTTGTCACGT	0.612000													27	43					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622208	241622208	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241622208G>A	ENST00000407834.3	-	1	109	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	16						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTCACAGAGGGTGAAGGTGGC	0.677000													22	65					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829790	160829790	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160829790G>A	ENST00000392145.1	+	4	721	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SLC22A3_ENST00000275300.2_Missense_Mutation_p.E232K			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	232						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTTAGTGACAGAAATAGTAGG	0.393000													21	29					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029927	62029927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:62029927G>A	ENST00000280772.1	-	5	666	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	ANK3_ENST00000503366.1_Missense_Mutation_p.L142F|ANK3_ENST00000373827.2_Missense_Mutation_p.L153F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	159					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTCAAGAAGAAACTTGACA	0.413000													18	52					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340068	42340068	+	Missense_Mutation	SNP	C	C	A	rs56290668		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42340068C>A	ENST00000262418.6	-	3	197	c.42G>T	c.(40-42)gaG>gaT	p.E14D	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	14					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTCCAGATTCTCCTCCATCA	0.587000													11	35					0.000978159	0.000981846	1	1	0
CRISP3	10321	broad.mit.edu	37	6	49703304	49703304	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:49703304C>T	ENST00000433368.2	-	4	328	c.258_splice	c.e4-1	p.E87_splice	CRISP3_ENST00000393666.1_Splice_Site_p.E64_splice|CRISP3_ENST00000371159.4_Splice_Site_p.E95_splice|CRISP3_ENST00000263045.4_Splice_Site_p.E77_splice|CRISP3_ENST00000423399.2_5'UTR	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	64					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGTTCCATTCCTGAAACAAG	0.373000													25	48					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699447	140699447	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140699447G>A	ENST00000313368.5	-	1	883	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	55					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTCTGACGATTCCATGAC	0.438000													24	51					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732129	157732129	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:157732129T>C	ENST00000502773.1	-	3	845	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.I119V|PDGFC_ENST00000542208.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	119	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGCCCTAATATAGTTCCATCA	0.358000													14	41					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958502	41958502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:41958502C>T	ENST00000269095.4	-	9	1248	c.944G>A	c.(943-945)gGa>gAa	p.G315E	MPP2_ENST00000377184.3_Missense_Mutation_p.G332E|MPP2_ENST00000520305.1_Missense_Mutation_p.G176E|MPP2_ENST00000518766.1_Missense_Mutation_p.G360E|MPP2_ENST00000536246.1_Missense_Mutation_p.G304E|MPP2_ENST00000523501.1_Missense_Mutation_p.G304E|MPP2_ENST00000461854.1_Missense_Mutation_p.G339E	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	339	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTTTTTCTTTCCTGAAAGGCT	0.562000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	105					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500931	33500931	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:33500931C>T	ENST00000404816.2	+	18	3286	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	LTBP1_ENST00000404525.1_Missense_Mutation_p.A599V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A599V|LTBP1_ENST00000418533.2_Missense_Mutation_p.A652V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A652V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A653V|LTBP1_ENST00000354476.3_Missense_Mutation_p.A979V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	978	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACTGTGGGGGCCTTCCGGTGT	0.542000													33	90					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108712202	108712202	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:108712202G>A	ENST00000526794.1	+	15	2278	c.2247_splice	c.e15+1	p.R749_splice	DDX10_ENST00000322536.3_Splice_Site_p.R749_splice			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	749							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCAAAGCATCGGGTAAGCTTT	0.313000			T	NUP98	AML*								9	15					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:13729599C>T	ENST00000265104.4	-	69	11936	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome				23	78					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517574	36517574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:36517574C>T	ENST00000360535.4	-	5	703	c.476G>A	c.(475-477)tGg>tAg	p.W159*	CLIP3_ENST00000593074.1_Nonsense_Mutation_p.W159*|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	159					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATGTTGGTCCAGCGGCTGCG	0.682000													3	17					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687132	159687132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:159687132G>A	ENST00000297267.9	+	21	5501	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.W1704*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1767						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCTATCTGGATCCCATTCG	0.493000													10	19					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50245272	50245272	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50245272C>T	ENST00000246801.3	-	9	1449	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E	TSKS_ENST00000358830.3_Missense_Mutation_p.G256E	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	456							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAACTGCGACCCCTGGCTGGG	0.642000													15	24					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307976	20307976	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:20307976A>G	ENST00000335117.8	+	4	514	c.457A>G	c.(457-459)Ata>Gta	p.I153V	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGAGCAAAATATTTCAATG	0.294000													19	62					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152569	166152569	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:166152569A>G	ENST00000357398.3	+	2	526	c.236A>G	c.(235-237)gAg>gGg	p.E79G	SCN2A_ENST00000375427.2_Missense_Mutation_p.E79G|SCN2A_ENST00000283256.6_Missense_Mutation_p.E79G|SCN2A_ENST00000375437.2_Missense_Mutation_p.E79G			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	79					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTGCCCCTGGAGGATCTGGAC	0.443000													14	43					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711244	12711244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12711244G>A	ENST00000376221.1	+	2	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	91						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGTGGTGACCGACCTGCGTTT	0.498000													35	45					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691556	68691556	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:68691556C>T	ENST00000283916.6	-	9	1087	c.989G>A	c.(988-990)aGa>aAa	p.R330K	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.R213K	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	330	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTATTATTCTGACCTGTCC	0.408000													27	92					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696851	11696851	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:11696851A>G	ENST00000262442.3	+	42	8161	c.8093A>G	c.(8092-8094)aAa>aGa	p.K2698R	DNAH9_ENST00000454412.2_Missense_Mutation_p.K2698R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2698					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAATGTGTGAAATCCACATGG	0.373000													19	64					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887679	9887679	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:9887679G>A	ENST00000306084.6	+	2	1402	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	TXNDC2_ENST00000357775.4_Silent_p.E334E|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	401	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CACCCAAGGAGATTGACATCC	0.562000													33	78					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3785067	3785067	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3785067G>A	ENST00000310132.6	-	2	465	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	MATK_ENST00000395040.2_Intron|MATK_ENST00000585778.1_Missense_Mutation_p.P23S|MATK_ENST00000395045.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	23					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTACCCGGGGAAGTTCCTCA	0.637000													16	33					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299271	58299271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:58299271G>A	ENST00000377918.3	+	4	3349	c.3323G>A	c.(3322-3324)aGc>aAc	p.S1108N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1108					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)		TCCAGAGCCAGCCGGGATTCC	0.527000													60	83					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740892	37740892	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:37740892C>T	ENST00000536622.1	+	12	2384	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Intron|FRMPD1_ENST00000541302.1_Silent_p.S658S|FRMPD1_ENST00000539465.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	796						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTGAGCCGTCCCTTGCAGGTC	0.617000													4	18					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894432	145894432	+	Silent	SNP	C	C	T	rs150820698	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:145894432C>T	ENST00000311104.2	-	1	1321	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	415						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACACCTTCCCCTGTCTCTT	0.403000													7	21					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43999855	43999855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:43999855C>T	ENST00000352133.2	+	19	2513	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R511C			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	511					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GTTCCTGATCCGCCTCATACA	0.647000													6	36					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389465	48389465	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:48389465C>T	ENST00000224600.4	-	1	1526	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	471	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGAGGTGCTCCGTGTCCTGTA	0.647000													7	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633464	179633464	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179633464C>T	ENST00000589042.1	-	38	9323	c.9099G>A	c.(9097-9099)ggG>ggA	p.G3033G	TTN_ENST00000359218.5_Silent_p.G2987G|TTN_ENST00000591111.1_Silent_p.G3033G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.G3033G|TTN_ENST00000460472.2_Silent_p.G2987G|TTN_ENST00000342992.6_Silent_p.G3033G|TTN_ENST00000342175.6_Silent_p.G2987G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2772	Ig-like 17.						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)			CAGCAGCATCCCCAAAGTGAA	0.398000													13	54					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473564	52473564	+	Missense_Mutation	SNP	G	G	A	rs146046759	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:52473564G>A	ENST00000219746.9	-	7	1588	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TOX3_ENST00000407228.3_Missense_Mutation_p.S430L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	435	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTTTGCACCGAAGGACTCAC	0.552000													14	40					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013082	73013082	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:73013082C>T	ENST00000308744.6	+	4	1220	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I275I|NPFFR2_ENST00000358749.3_Silent_p.I272I|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	374					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGCAGAAGATCATTAAGATGC	0.498000													21	66					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	0					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914509	51914509	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51914509G>A	ENST00000353836.5	-	10	1874	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	SIGLEC10_ENST00000442846.3_Silent_p.F403F|SIGLEC10_ENST00000356298.5_Silent_p.F646F|SIGLEC10_ENST00000441969.3_Silent_p.F493F|SIGLEC10_ENST00000436984.2_Silent_p.F503F|SIGLEC10_ENST00000439889.2_Silent_p.F588F|SIGLEC10_ENST00000525998.1_Silent_p.F461F|SIGLEC10_ENST00000432469.2_Silent_p.F468F|SIGLEC10_ENST00000339313.5_Silent_p.F646F	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	646					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGGTTCTGGGAAACTGGGCA	0.547000													40	130					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823955	50823955	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50823955C>T	ENST00000376959.2	-	3	2228	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	KCNC3_ENST00000391818.2_Silent_p.K25K|KCNC3_ENST00000474951.1_Missense_Mutation_p.D5N|KCNC3_ENST00000477616.1_Missense_Mutation_p.D689N			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	689					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGGCTCTTGTCTTCCGGGGAC	0.657000													9	31					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536457	37536457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:37536457G>A	ENST00000299824.1	+	9	1096	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E261K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	303					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGACCTGTGCGAGGAGGAAGA	0.592000													10	39					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378734	31378734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:31378734C>T	ENST00000297142.3	-	2	471	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	50					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tccAGGGGCCCTTTTGATGCT	0.443000													43	110					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703334	98703334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:98703334G>A	ENST00000336273.3	+	6	1294	c.966G>A	c.(964-966)tgG>tgA	p.W322*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.W299*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	322					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CATCTGCCTGGAGTCAAGACA	0.453000													36	45					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616305	248616305	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248616305C>T	ENST00000342927.3	+	1	229	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCTCCATCATGGATACCA	0.512000													56	173					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87392992	87392992	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:87392992C>T	ENST00000517970.1	+	4	415	c.108C>T	c.(106-108)ttC>ttT	p.F36F	WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000341922.2_Silent_p.F36F|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Silent_p.F36F	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	36	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAACTGGTTCGGAACAGCAA	0.348000													3	23					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086302	109086302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:109086302C>T	ENST00000309863.6	+	6	1231	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	173					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAAATTTCAGAACAACTC	0.343000													27	75					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432828	180432828	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:180432828G>A	ENST00000342868.6	+	8	1541	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	453	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTATGACGAGGAAAAGGGGAC	0.488000													15	35					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110355	57110355	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57110355G>A	ENST00000454682.1	-	3	5240	c.4959C>T	c.(4957-4959)tcC>tcT	p.S1653S	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGAAGCTGGGGAAGTAGGGG	0.552000			T	BCL6	NHL								9	44					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784241	160784241	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160784241G>A	ENST00000263285.5	+	4	792	c.762G>A	c.(760-762)ggG>ggA	p.G254G	LY9_ENST00000341032.4_Silent_p.G254G|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.G214G|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	254	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAACAACGGGGGAGACTGTGG	0.582000													19	80					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552455	100552455	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100552455C>T	ENST00000319509.7	+	1	1206	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTCCAGTTCCACTGGCACTG	0.493000													49	167					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496988	124496988	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:124496988C>A	ENST00000539644.1	+	6	2127	c.297C>A	c.(295-297)agC>agA	p.S99R	ZNF664_ENST00000337815.4_Missense_Mutation_p.S99R|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.S99R|ZNF664_ENST00000392404.3_Missense_Mutation_p.S99R			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCAATTGGAGCTCCCATCTTC	0.398000													18	68					5.3912e-06	5.43885e-06	1	1	0
STK31	56164	broad.mit.edu	37	7	23809328	23809328	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:23809328G>A	ENST00000354639.3	+	13	2061	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	STK31_ENST00000433467.2_Missense_Mutation_p.E556K|STK31_ENST00000428484.1_Missense_Mutation_p.E533K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E556K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	556							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAAATCCTAGAGAAGACTGA	0.378000													46	108					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477334	110477334	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:110477334C>T	ENST00000378402.5	+	49	8377	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2758					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAGTGACATCCATCTCTGGA	0.483000										HNSCC(38;0.096)			24	81					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5787325	5787325	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:5787325G>A	ENST00000309061.7	-	7	1356	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	DUS3L_ENST00000320699.8_Silent_p.I178I	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	420					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCCACGGACGATCTGCTGGA	0.657000													6	16					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54417813	54417813	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:54417813C>T	ENST00000371370.3	+	3	662	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LRRC42_ENST00000319223.4_Silent_p.F47F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	47										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TCAGACTGTTCCCCAAAGGCT	0.517000													26	79					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905712	132905712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:132905712C>T	ENST00000409867.1	-	6	1018	c.769G>A	c.(769-771)Gat>Aat	p.D257N	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						TCCTATTCATCAGGTGTTCTT	0.438000													6	15					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774931	47774931	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:47774931C>T	ENST00000376954.1	+	6	1254	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H296Y			P51508	ZNF81_HUMAN	zinc finger protein 81	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAAAAAATTCATACTGTGGA	0.358000													17	30					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965476	88965476	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:88965476A>G	ENST00000333190.4	+	4	3789	c.3180A>G	c.(3178-3180)caA>caG	p.Q1060Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1060						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)			GTGAAATCCAACCTTTTATTC	0.363000										HNSCC(36;0.09)			24	55					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554702	140554702	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140554702C>T	ENST00000231137.3	+	1	2460	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		762					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAATGAGTTCAAGTTTCTGA	0.507000													24	66					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778105	43778105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:43778105G>A	ENST00000372476.3	+	12	1839	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	TIE1_ENST00000433781.2_Missense_Mutation_p.G232E	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	587	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G587E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGGGACGGGACACGGGGG	0.692000													13	28					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:72967929C>T	ENST00000264839.7	+	17	2872	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_ENST00000401910.3_Missense_Mutation_p.R431C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R417C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R957C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R957C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R958C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R957C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R432C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R958C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R957C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R351C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R958C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000													7	20					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62278913	62278913	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:62278913A>G	ENST00000474889.1	+	30	4646	c.4269A>G	c.(4267-4269)gtA>gtG	p.V1423V	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Silent_p.V1394V|PTPRG-AS1_ENST00000498655.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1423					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCATGACAGTAGACAAAAATG	0.413000													23	44					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100589882	100589882	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:100589882C>T	ENST00000544450.2	+	4	660	c.377C>T	c.(376-378)tCc>tTc	p.S126F	EVL_ENST00000392920.3_Missense_Mutation_p.S122F|EVL_ENST00000402714.2_Missense_Mutation_p.S120F			Q9UI08	EVL_HUMAN	Enah/Vasp-like	120					actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ACAGGCCCCTCCAGCCAGCGT	0.587000													6	21					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138669938	138669938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:138669938C>T	ENST00000520602.1	-	25	2924	c.2639G>A	c.(2638-2640)aGa>aAa	p.R880K	MCF2_ENST00000370573.4_Missense_Mutation_p.R820K|MCF2_ENST00000370576.4_Missense_Mutation_p.R820K|MCF2_ENST00000370578.4_Missense_Mutation_p.R965K|MCF2_ENST00000338585.6_Missense_Mutation_p.R836K|MCF2_ENST00000519895.1_Missense_Mutation_p.R896K|MCF2_ENST00000536274.1_Missense_Mutation_p.R781K|MCF2_ENST00000414978.1_Missense_Mutation_p.R880K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGCTTTCTTTTTTTAAC	0.348000													19	42					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431261	117431261	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:117431261G>A	ENST00000160373.3	-	4	2080	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	663										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGAGCAAAAGGCAATGGTGG	0.537000													35	47					0	0	1	0	0
RPS5	6193	broad.mit.edu	37	19	58904729	58904729	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:58904729C>T	ENST00000596046.1	+	3	1171	c.322C>T	c.(322-324)Cct>Tct	p.P108S	RPS5_ENST00000601521.1_Missense_Mutation_p.P108S|RPS5_ENST00000598098.1_Missense_Mutation_p.P38S|RPS5_ENST00000598495.1_Missense_Mutation_p.P129S|RPS5_ENST00000196551.3_Missense_Mutation_p.P108S			P46782	RS5_HUMAN	ribosomal protein S5	108					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TCTCTAGAACCCTCTGCAGGT	0.572000													30	84					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856811	4856811	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:4856811G>A	ENST00000302640.8	+	58	8081	c.7731G>A	c.(7729-7731)ctG>ctA	p.L2577L	AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Silent_p.L2544L|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000456211.2_Silent_p.L2529L|ITPR1_ENST00000354582.6_Silent_p.L2577L|ITPR1_ENST00000544951.1_Silent_p.L555L|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Silent_p.L2544L|ITPR1_ENST00000443694.2_Silent_p.L2577L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2592					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTTAACCTGATTTTTGGGG	0.433000													29	84					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453568	82453568	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82453568G>A	ENST00000423517.2	-	19	14917	c.14580C>T	c.(14578-14580)ttC>ttT	p.F4860F	PCLO_ENST00000333891.8_Silent_p.F4860F|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4722					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGGGTCAGGGAAGATACCAT	0.388000													7	18					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73100385	73100385	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:73100385G>A	ENST00000264839.7	+	26	3999	c.3999G>A	c.(3997-3999)caG>caA	p.Q1333Q	RIMS1_ENST00000401910.3_Silent_p.Q804Q|RIMS1_ENST00000517827.1_Silent_p.Q618Q|RIMS1_ENST00000517960.1_Silent_p.Q1267Q|RIMS1_ENST00000520567.1_Silent_p.Q1134Q|RIMS1_ENST00000521978.1_Silent_p.Q1484Q|RIMS1_ENST00000348717.5_Silent_p.Q1267Q|RIMS1_ENST00000538414.1_Silent_p.Q290Q|RIMS1_ENST00000523963.1_Silent_p.Q609Q|RIMS1_ENST00000518273.1_Silent_p.Q1163Q|RIMS1_ENST00000414192.2_Silent_p.Q11Q|RIMS1_ENST00000522291.1_Silent_p.Q1083Q|RIMS1_ENST00000425662.2_Silent_p.Q552Q|RIMS1_ENST00000491071.2_Silent_p.Q1307Q|RIMS1_ENST00000431478.2_3'UTR			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1484					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGGTAAGGCAGCCGAGCCGAG	0.502000													9	28					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381054	108381054	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:108381054C>T	ENST00000265843.4	-	6	5290	c.5180G>A	c.(5179-5181)aGa>aAa	p.R1727K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1651K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1720K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1539K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1727					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCTGATTCTCTTACTAAATT	0.458000													34	60					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235165	73235165	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:73235165C>A	ENST00000377110.2	-	15	2163	c.1920G>T	c.(1918-1920)atG>atT	p.M640I	TRPM3_ENST00000377106.1_Missense_Mutation_p.M512I|TRPM3_ENST00000377105.1_Missense_Mutation_p.M499I|TRPM3_ENST00000377111.2_Missense_Mutation_p.M640I|TRPM3_ENST00000396292.4_Missense_Mutation_p.M512I|TRPM3_ENST00000360823.2_Missense_Mutation_p.M502I|TRPM3_ENST00000423814.3_Missense_Mutation_p.M667I|TRPM3_ENST00000396285.1_Missense_Mutation_p.M487I|TRPM3_ENST00000357533.2_Missense_Mutation_p.M644I|TRPM3_ENST00000408909.2_Missense_Mutation_p.M499I|TRPM3_ENST00000358082.3_Missense_Mutation_p.M502I|TRPM3_ENST00000396280.5_Missense_Mutation_p.M489I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	665						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						CAGCCCACACCATGAGCTCAT	0.552000													76	64					5.02462e-34	5.13385e-34	1	1	0
PAPD7	11044	broad.mit.edu	37	5	6749729	6749729	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:6749729A>C	ENST00000230859.6	+	9	1025	c.896A>C	c.(895-897)aAa>aCa	p.K299T		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	299					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTGGATCAAAGAGAAGTGG	0.478000													44	101					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409094	4409094	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:4409094G>A	ENST00000261254.3	+	5	1058	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	263					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGTACCGTCAGGACCAACGTG	0.552000			T	IGL@	"""NHL,CLL"""								9	42					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273212	139273212	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:139273212G>A	ENST00000298532.2	-	21	3435	c.3067C>T	c.(3067-3069)Ctc>Ttc	p.L1023F		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1023	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GACTGTCCGAGACCACTCTCG	0.711000													5	3					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65271785	65271785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:65271785T>A	ENST00000389722.3	-	2	225	c.172A>T	c.(172-174)Aag>Tag	p.K58*	SPTB_ENST00000542895.1_Nonsense_Mutation_p.K58*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.K58*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.K58*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.K58*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	58	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGAAGGTCTTTTTCTGAACA	0.557000													20	38					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:40359793C>T	ENST00000338305.6	-	3	2801	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													13	34					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843261	7843261	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7843261G>A	ENST00000329913.3	-	2	355	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	103					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGCAGGCAGGAGGAAGCTTG	0.443000													21	71					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816125	82816125	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:82816125G>A	ENST00000265077.3	+	7	2565	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	VCAN_ENST00000512590.2_Missense_Mutation_p.G619E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G667E|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	667	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTAGTAGAGGGAATTTCCACA	0.338000													24	50					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074934	106074934	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:106074934G>A	ENST00000278071.2	-	3	1328	c.876C>T	c.(874-876)tcC>tcT	p.S292S	ITPRIP_ENST00000337478.1_Silent_p.S292S|ITPRIP_ENST00000358187.2_Silent_p.S292S	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	292						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCAGGTACAGGGAATCTGTGG	0.602000													14	36					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829157	96829157	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96829157C>T	ENST00000371270.3	-	1	97	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C8_ENST00000535898.1_5'UTR|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	1					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CAAAAGGTTCCATTGAAGCCT	0.448000													18	61					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414414	26414414	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26414414G>A	ENST00000265944.5	+	19	2157	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACAATTATACGACCCAATACT	0.423000													29	75					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564822	22564822	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22564822G>A	ENST00000390452.2	+	0	291																											AGAAAGCAGCGAAATCCGTCG	0.423000													11	43					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129946646	129946646	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:129946646G>A	ENST00000222482.4	+	7	639	c.611G>A	c.(610-612)aGg>aAg	p.R204K	CPA4_ENST00000445470.2_Missense_Mutation_p.R171K|CPA4_ENST00000493259.1_Missense_Mutation_p.R100K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	204					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GATTACCAGAGGGATCCAGCT	0.433000													23	45					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369190	78369190	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:78369190G>A	ENST00000278550.7	-	34	8685	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAGAGATCACGAAAAAGCCGT	0.602000													53	88					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784918	140784918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140784918C>T	ENST00000573521.1	+	1	2399	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAGTTTCCTATAGAAGAC	0.403000													23	73					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996137	2996137	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2996137C>T	ENST00000331459.1	-	1	153	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	52					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGGCGGGAATCAGAGCTGATG	0.542000													46	111					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975987	118975987	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:118975987G>A	ENST00000296499.5	+	2	1325	c.922G>A	c.(922-924)Gat>Aat	p.D308N	NDST3_ENST00000433996.2_Missense_Mutation_p.D308N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	308	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATTCTTGTGGATATTGATGA	0.393000													47	136					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579150	82579150	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82579150G>A	ENST00000423517.2	-	6	11091	c.10754C>T	c.(10753-10755)tCt>tTt	p.S3585F	PCLO_ENST00000333891.8_Missense_Mutation_p.S3585F|PCLO_ENST00000437081.1_Missense_Mutation_p.S305F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3516					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGGGTGGAGATGTGGCACT	0.473000													28	49					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575423	45575423	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:45575423G>A	ENST00000303809.2	-	3	1078	c.864C>T	c.(862-864)agC>agT	p.S288S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	288					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCATGAGGGGGCTCTGGGGCG	0.697000													11	38					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719594	81719594	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:81719594G>A	ENST00000550584.2	-	21	2899	c.2604C>T	c.(2602-2604)ctC>ctT	p.L868L	PPFIA2_ENST00000541570.2_Silent_p.L435L|PPFIA2_ENST00000407050.4_Silent_p.L794L|PPFIA2_ENST00000549396.1_Silent_p.L868L|PPFIA2_ENST00000333447.7_Silent_p.L850L|PPFIA2_ENST00000443686.3_Silent_p.L769L|PPFIA2_ENST00000552948.1_Silent_p.L868L|PPFIA2_ENST00000548586.1_Silent_p.L868L|PPFIA2_ENST00000550359.2_Silent_p.L715L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.L85L|PPFIA2_ENST00000549325.1_Silent_p.L850L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	794										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGAGTTCCGAGTTTGCCTA	0.388000													6	24					0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190619038	190619038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:190619038C>A	ENST00000519810.1	-	5	985	c.643G>T	c.(643-645)Gag>Tag	p.E215*	OSGEPL1_ENST00000264151.5_Nonsense_Mutation_p.E215*|OSGEPL1_ENST00000522700.1_Nonsense_Mutation_p.E215*			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	215					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTGGAGCACTCTGGATGTTTT	0.348000													10	12					0.00621372	0.00622931	1	1	0
TBL3	10607	broad.mit.edu	37	16	2025874	2025874	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:2025874C>T	ENST00000568546.1	+	11	1181	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	351					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCCACGTTGTCGTGGCCTCCA	0.622000													27	52					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291877	22291877	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:22291877C>T	ENST00000323684.1	+	1	813	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	257	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GCCAACACCTCCCGACTATTA	0.428000													81	133					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249602	140249602	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140249602G>A	ENST00000398640.2	+	1	914	c.914G>A	c.(913-915)gGa>gAa	p.G305E	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTCAATGGAACTTTAGAT	0.393000													14	21					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810354	124810354	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:124810354G>A	ENST00000423114.2	-	12	1936	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.T418I|SLC12A8_ENST00000469902.1_Missense_Mutation_p.T617I|SLC12A8_ENST00000393469.4_Missense_Mutation_p.T617I|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	617					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTAACCAGGGTATACACCCA	0.488000													16	27					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038084	36038084	+	Silent	SNP	G	G	A	rs72742496	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:36038084G>A	ENST00000282507.3	-	6	1211	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	UGT3A2_ENST00000545528.1_Silent_p.G68G|UGT3A2_ENST00000513300.1_Silent_p.G336G	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	370						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTCTGCCCGCCGTGGGTGA	0.507000													6	82					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897050	175897050	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:175897050G>A	ENST00000359240.3	+	5	1044	c.374G>A	c.(373-375)gGa>gAa	p.G125E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G125E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G125E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G125E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	125					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGTTTTCAAGGAATATTACAG	0.423000													26	27					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975791	10975791	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:10975791G>A	ENST00000254488.2	+	12	1580	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	505					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACATGATTGGCTACCGGCCA	0.532000													20	61					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226711	30226711	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:30226711A>T	ENST00000261708.4	-	2	268	c.131T>A	c.(130-132)aTc>aAc	p.I44N	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	44					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCTTCTCTGGATTTTGTACTC	0.303000													10	22					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066738	88066738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:88066738C>T	ENST00000393207.1	+	9	1284	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	BANP_ENST00000355163.5_Missense_Mutation_p.P330S|BANP_ENST00000355022.4_Missense_Mutation_p.P324S|BANP_ENST00000286122.7_Missense_Mutation_p.P355S|BANP_ENST00000538234.1_Missense_Mutation_p.P363S|BANP_ENST00000479780.2_Missense_Mutation_p.P324S|BANP_ENST00000393208.2_Missense_Mutation_p.P324S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	355	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CACCCCACCTCCTGCCAGCGA	0.642000													7	20					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508876	26508876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26508876G>A	ENST00000361530.6	+	5	647	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	CNKSR1_ENST00000374253.5_Missense_Mutation_p.G168S|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_Intron			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	168					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAAGGAGGGCACAGTCCT	0.647000													11	41					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587279	55587279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55587279C>T	ENST00000373965.2	-	33	4656	c.4262G>A	c.(4261-4263)cGa>cAa	p.R1421Q	PCDH15_ENST00000361849.3_Missense_Mutation_p.R1414Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1414Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1025Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1411Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1343Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1414Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1421Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1416Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1389Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1374Q|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1414					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1414Q(2)|p.R1419Q(1)|p.R1416Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGAATTCGTGCAGTCTT	0.542000										HNSCC(58;0.16)			25	50					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499271	56499271	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56499271A>G	ENST00000291971.3	+	10	3210	c.3139A>G	c.(3139-3141)Aat>Gat	p.N1047D	NLRP8_ENST00000590542.1_Missense_Mutation_p.N1028D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1047						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATCCCAGATTAATCCTTAGGC	0.498000													20	44					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314675	79314675	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:79314675C>T	ENST00000305089.3	-	2	144	c.64_splice	c.e2+1	p.G22_splice		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	22					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AAAATCTCACCTTGGCTCAGA	0.473000													17	30					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21760446	21760446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:21760446C>T	ENST00000328843.6	+	45	7290	c.7259C>T	c.(7258-7260)gCt>gTt	p.A2420V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2413V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2420					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTATCTGGGCTTTTGGAGGC	0.418000									Kartagener syndrome				5	16					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087123	92087123	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:92087123C>T	ENST00000298047.6	+	1	1862	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	FAT3_ENST00000409404.2_Silent_p.I615I|FAT3_ENST00000541502.1_Silent_p.I615I|FAT3_ENST00000525166.1_Silent_p.I465I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	615	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAAAATCATTTCTGGAA	0.363000										TCGA Ovarian(4;0.039)			3	9					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865287	109865287	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109865287C>T	ENST00000310903.5	+	19	1903	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	MYO1H_ENST00000431443.2_Silent_p.D609D			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AATTTGATGACTTCCTCATAA	0.473000													55	142					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226178	42226178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42226178C>T	ENST00000319977.4	+	3	1244	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	C17orf53_ENST00000245382.6_Missense_Mutation_p.P336L|C17orf53_ENST00000585683.1_Missense_Mutation_p.P336L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	336										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGATTATTTCCTCGGATACCC	0.517000													91	199					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1013248	1013248	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:1013248G>A	ENST00000356663.3	-	3	720	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TMEM259_ENST00000333175.5_Missense_Mutation_p.P200L	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		ACCTTTGGTGGGCGTCTCGGG	0.637000													13	47					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30998885	30998885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:30998885C>T	ENST00000295055.8	-	4	474	c.298G>A	c.(298-300)Gga>Aga	p.G100R	CAPN13_ENST00000534090.2_Missense_Mutation_p.G100R|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGATCCCAGTGCTGCC	0.522000													7	25					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175466	140175466	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140175466G>A	ENST00000526136.1	+	1	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G306E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G306E|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACTAAGGGAAAATTAGAT	0.403000													26	54					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887719	71887719	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71887719G>A	ENST00000258104.3	+	44	5101	c.4824G>A	c.(4822-4824)ggG>ggA	p.G1608G	DYSF_ENST00000409651.1_Silent_p.G1640G|DYSF_ENST00000409762.1_Silent_p.G1625G|DYSF_ENST00000410041.1_Silent_p.G1626G|DYSF_ENST00000410020.3_Silent_p.G1647G|DYSF_ENST00000409744.1_Silent_p.G1616G|DYSF_ENST00000409582.3_Silent_p.G1646G|DYSF_ENST00000409366.1_Silent_p.G1630G|DYSF_ENST00000413539.2_Silent_p.G1639G|DYSF_ENST00000394120.2_Silent_p.G1609G|DYSF_ENST00000429174.2_Silent_p.G1629G|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1608	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCCATAGGGAAGAAATCAG	0.483000													21	55					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886965	150886965	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:150886965C>T	ENST00000261800.5	-	22	12279	c.12267G>A	c.(12265-12267)agG>agA	p.R4089R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4089					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAACACTCCTGGCCAGGA	0.572000													23	43					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614806	135614806	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:135614806C>T	ENST00000520727.1	-	7	1419	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	ZFAT_ENST00000523399.1_Missense_Mutation_p.E324K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E374K|ZFAT_ENST00000377838.3_Missense_Mutation_p.E386K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E374K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E374K	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562000													28	49					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169953057	169953057	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:169953057T>C	ENST00000295797.4	+	2	446	c.141T>C	c.(139-141)ttT>ttC	p.F47F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	47	OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCATCTCCTTTGAGGGCCTTT	0.363000													12	37					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968512	118968512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:118968512G>A	ENST00000515256.1	+	2	312	c.140G>A	c.(139-141)gGg>gAg	p.G47E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	47						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TGGAGCCAAGGGGTGGGAGAA	0.532000													13	44					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471748	61471748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61471748G>A	ENST00000398019.2	+	8	1347	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SERPINB7_ENST00000540675.1_Missense_Mutation_p.G324E|SERPINB7_ENST00000336429.2_Missense_Mutation_p.G341E|SERPINB7_ENST00000546027.1_Missense_Mutation_p.G341E	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	341					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCTGCCACAGGAAGTAATATT	0.463000													25	48					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170160844	170160844	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:170160844T>C	ENST00000328939.4	+	7	1082	c.545T>C	c.(544-546)aTg>aCg	p.M182T	KCNIP1_ENST00000434108.1_Missense_Mutation_p.M207T|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M182T|KCNIP1_ENST00000377360.4_Missense_Mutation_p.M191T|KCNIP1_ENST00000520740.1_Missense_Mutation_p.M154T|KCNIP1_ENST00000411494.1_Missense_Mutation_p.M193T	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	193	EF-hand 4.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCAGAAAATGGACAAAAAT	0.408000													14	40					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307833	113307833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113307833G>A	ENST00000389385.4	+	10	1282	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RPH3A_ENST00000551052.1_Missense_Mutation_p.R258Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.R213Q|RPH3A_ENST00000447659.2_Missense_Mutation_p.R213Q|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.R262Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.R262Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.R262Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	262	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GACTCCAGCCGGAGCCCAGCA	0.542000													8	28					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635376	122635376	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122635376T>G	ENST00000249284.2	-	1	378	c.313A>C	c.(313-315)Atc>Ctc	p.I105L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	105					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGACCTTGATGCAGTAGAAC	0.373000													19	42					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24303886	24303886	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:24303886C>T	ENST00000238721.4	-	3	1276	c.422G>A	c.(421-423)gGa>gAa	p.G141E	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.G141E|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.G141E|TP53I3_ENST00000313482.4_Missense_Mutation_p.G141E	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	141					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAGTCTCCAGCCTGAAC	0.512000													46	116					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177333	153177333	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:153177333A>T	ENST00000368747.1	+	2	260	c.150A>T	c.(148-150)gaA>gaT	p.E50D		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	50	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCATGGGAAAAGTGTCCAG	0.557000													53	76					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546864	9546864	+	Silent	SNP	G	G	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:9546864G>T	ENST00000378429.3	-	6	1704	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	PAK7_ENST00000378423.1_Silent_p.P386P|PAK7_ENST00000353224.5_Silent_p.P386P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	386	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTGCAGGGAGGGGTGATGGT	0.587000													25	84					1.37878e-21	1.40516e-21	1	1	0
MAP7	9053	broad.mit.edu	37	6	136704887	136704887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:136704887G>A	ENST00000354570.3	-	6	969	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	MAP7_ENST00000454590.1_Missense_Mutation_p.L209F|MAP7_ENST00000544465.1_Missense_Mutation_p.L172F|MAP7_ENST00000432797.2_Missense_Mutation_p.L41F|MAP7_ENST00000438100.2_Intron	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	187					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TATTTCGAAAGATTCATGGTG	0.403000													12	28					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23861798	23861798	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:23861798T>C	ENST00000405093.3	-	25	3385	c.3315A>G	c.(3313-3315)caA>caG	p.Q1105Q	MYH6_ENST00000356287.3_Silent_p.Q1105Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1105					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTCTGTAGTTGAAGGGCCA	0.502000													45	173					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722194	8722194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:8722194G>A	ENST00000378641.3	+	23	2972	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E833K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E833K|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	833					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E833K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGACACTGGAAGATGAAGA	0.393000													11	29					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302488	102302488	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:102302488T>A	ENST00000370103.4	-	2	376	c.163A>T	c.(163-165)Aac>Tac	p.N55Y	OLFM3_ENST00000338858.5_Missense_Mutation_p.N75Y|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.N75Y|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	75						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAACACAGGTTTTGTTCTGGA	0.488000													37	62					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977613	46977613	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:46977613G>A	ENST00000371253.2	-	11	1773	c.1558C>T	c.(1558-1560)Cta>Tta	p.L520L	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.L323L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	520					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAAAAAAATAGGAAAACTTCA	0.418000													16	32					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954456	119954456	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:119954456G>A	ENST00000327554.2	+	8	1377	c.912G>A	c.(910-912)cgG>cgA	p.R304R	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	304										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATGGTTCGGGAAGATGCCC	0.488000													7	39					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30998886	30998886	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:30998886C>T	ENST00000295055.8	-	4	473	c.297G>A	c.(295-297)ctG>ctA	p.L99L	CAPN13_ENST00000534090.2_Silent_p.L99L|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	99	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L99L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCAAGGATCCCAGTGCTGCCA	0.517000													7	25					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395139	154395139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:154395139G>A	ENST00000435029.4	+	1	1880	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	574					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)			TCTGCAAAAGGAAAAGGAAGA	0.428000													18	73					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73237751	73237751	+	Silent	SNP	C	C	T	rs150145405		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:73237751C>T	ENST00000245541.6	-	9	990	c.774G>A	c.(772-774)aaG>aaA	p.K258K	GGA3_ENST00000538886.1_Silent_p.K136K|GGA3_ENST00000582717.1_Silent_p.K186K|GGA3_ENST00000578348.1_Silent_p.K136K|GGA3_ENST00000582486.1_Silent_p.K186K|GGA3_ENST00000351904.7_Silent_p.K225K|GGA3_ENST00000537686.1_3'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	258	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AAGTCCGCCTCTTGTTCTCAC	0.448000													114	274					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171396	124171396	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:124171396A>C	ENST00000303372.5	+	6	706	c.578A>C	c.(577-579)aAt>aCt	p.N193T	TCTN2_ENST00000426174.2_Missense_Mutation_p.N192T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	193					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCATCAAATTTAACAACG	0.507000													43	102					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338483	122338483	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122338483A>T	ENST00000340112.2	-	1	727	c.490T>A	c.(490-492)Ttc>Atc	p.F164I	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTAAATGGAAAATTTCCGTG	0.418000													24	92					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867879	7867879	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7867879C>T	ENST00000345088.2	+	2	300	c.183C>T	c.(181-183)ctC>ctT	p.L61L		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	61						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AAGCTTTACTCCGTCGAGAGT	0.478000													24	39					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227539	35227539	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:35227539A>T	ENST00000339480.1	+	2	1054	c.684A>T	c.(682-684)gaA>gaT	p.E228D	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	228					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGTGCCGGGAATGCCTACCCG	0.617000													9	50					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9970272	9970272	+	Silent	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9970272C>G	ENST00000295981.3	+	12	1499	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	IL17RC_ENST00000403601.3_Silent_p.L356L|IL17RC_ENST00000413608.1_Silent_p.L356L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Silent_p.L341L	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	427						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGAAGGTTCTCGAGTTCCCAT	0.597000													82	218					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902560	247902560	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247902560C>T	ENST00000283225.2	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ATTGTAGTTTCCTATGTGTAC	0.408000													53	60					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971599	55971599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:55971599G>A	ENST00000389286.4	-	7	1065	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	340	Ig-like 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTGCCAGCTCGAGGCCTTGTT	0.388000													23	62					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88091628	88091628	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:88091628G>A	ENST00000273963.5	-	7	1689	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	KLHL8_ENST00000512111.1_Missense_Mutation_p.R450C|KLHL8_ENST00000425278.2_Missense_Mutation_p.R267C|KLHL8_ENST00000545252.1_Missense_Mutation_p.R99C|KLHL8_ENST00000498875.2_Missense_Mutation_p.R374C	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	450										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTCCTCCACGGGGAGTATTC	0.393000													33	77					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176899	140176899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140176899G>A	ENST00000526136.1	+	1	2350	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E784K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E784K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCCGCAGAAGAGAAACA	0.468000													24	53					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568397	52568397	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:52568397G>A	ENST00000389534.4	-	7	3197	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	ZNF841_ENST00000594295.1_Missense_Mutation_p.P913L|ZNF841_ENST00000426391.2_Missense_Mutation_p.P797L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.P489L	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AACATCTAACGGCCTTTCCAC	0.388000													7	21					0	0	1	0	0
RP11-64J4.2	0	broad.mit.edu	37	17	3214709	3214709	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:3214709C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GCTGTGAAGTCCAGGGTGCCC	0.547000													6	23					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714206	70714206	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:70714206G>A	ENST00000530196.1	-	0	312					NR_003951.1																						AGCCATCCAGGAGCCTTTGCA	0.517000													9	54					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231995	142231995	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142231995C>T	ENST00000390364.3	-	0	95																											AGACAAAGGGCCACATAGAAG	0.582000													18	42					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046174	73046174	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:73046174C>T	ENST00000261180.4	+	16	2709	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	871					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						TCTGGGAATTCATATGGATGA	0.388000													18	69					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:61833636C>T	ENST00000280772.1	-	37	7194	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2335					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTACCTTTTTCGATGTGGACT	0.428000													34	82					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32546336	32546336	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:32546336G>A	ENST00000382097.3	-	7	696	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	208										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CTTCAAGAGAGACAGATAGGC	0.418000													33	121					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513069	69513069	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:69513069A>T	ENST00000338206.5	-	6	1355	c.1346T>A	c.(1345-1347)aTt>aAt	p.I449N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	449					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GTCATGATGAATTCTTGATAA	0.388000													40	109					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305307	54305307	+	Silent	SNP	T	T	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:54305307T>C	ENST00000545554.1	+	1	207	c.207T>C	c.(205-207)tgT>tgC	p.C69C	UNC13C_ENST00000537900.1_Silent_p.C69C|UNC13C_ENST00000260323.11_Silent_p.C69C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	69					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCAAAGTGTTCATCCACTC	0.443000													16	46					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102639	50102639	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50102639C>T	ENST00000418929.2	+	5	3801	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	442							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGAGAAGATCGAGGCCAAGA	0.587000													7	9					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590727	83590727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:83590727C>T	ENST00000265362.3	-	17	2590	c.2276G>A	c.(2275-2277)aGg>aAg	p.R759K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R759K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	759	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTGGGTCCTCCTGTTTCTACC	0.453000													38	129					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675097	100675097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100675097G>A	ENST00000306151.4	+	3	464	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	134	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTACTGAAGACACTTC	0.478000													44	106					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:88854820G>A	ENST00000537554.1	-	2	3736	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369501.2_Silent_p.F58F|CNR1_ENST00000369499.2_Silent_p.F58F|CNR1_ENST00000535130.1_Silent_p.F58F|CNR1_ENST00000549890.1_Silent_p.F58F|CNR1_ENST00000428600.2_Silent_p.F58F|CNR1_ENST00000468898.1_Silent_p.F25F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458000													18	29					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37695333	37695333	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:37695333C>T	ENST00000248901.6	+	6	607	c.420C>T	c.(418-420)ctC>ctT	p.L140L	CYTH4_ENST00000405206.3_Silent_p.L140L|CYTH4_ENST00000402997.1_Silent_p.L140L|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	140	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L140L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACCTCAACCTCGTCCAGGCCC	0.662000													9	20					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539510	62539510	+	RNA	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:62539510C>T	ENST00000570077.1	-	0	272																											CTCACCTGCTCTGACATCTCC	0.547000													7	23					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349921	21349921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21349921G>A	ENST00000256958.2	+	8	865	c.769G>A	c.(769-771)Gct>Act	p.A257T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	257					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGGTTGGAGCTTGGTGGCT	0.363000													38	89					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704087	131704087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:131704087G>A	ENST00000409359.1	+	4	4072	c.2874G>A	c.(2872-2874)tgG>tgA	p.W958*	ARHGEF4_ENST00000428230.2_Nonsense_Mutation_p.W102*|ARHGEF4_ENST00000525839.1_Nonsense_Mutation_p.W102*|ARHGEF4_ENST00000409303.1_Nonsense_Mutation_p.W102*|ARHGEF4_ENST00000326016.5_Nonsense_Mutation_p.W102*|ARHGEF4_ENST00000392953.3_Nonsense_Mutation_p.W102*			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	102					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCCAGTGCTGGAGAAAGACGA	0.493000													49	114					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184093374	184093374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184093374C>T	ENST00000204615.7	-	4	371	c.157G>A	c.(157-159)Gtt>Att	p.V53I	THPO_ENST00000421442.2_Missense_Mutation_p.V53I|THPO_ENST00000445696.2_Missense_Mutation_p.V53I|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	53					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGGGTGAACCTCTGGGCAC	0.512000													16	40					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877669	2877669	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:2877669A>T	ENST00000586426.1	+	4	797	c.710A>T	c.(709-711)aAa>aTa	p.K237I	ZNF556_ENST00000307635.2_Missense_Mutation_p.K238I			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGTGGGAAAGGCTTCAGT	0.517000													16	35					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330067	138330067	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:138330067C>A	ENST00000409968.1	+	17	3542	c.3364C>A	c.(3364-3366)Ctt>Att	p.L1122I	THSD7B_ENST00000272643.3_Missense_Mutation_p.L1125I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1094I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTGTTCTCTTATGTGTCC	0.458000													13	26					7.03913e-09	7.11032e-09	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116055804	116055804	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:116055804A>G	ENST00000369271.3	-	19	2742	c.2442T>C	c.(2440-2442)agT>agC	p.S814S	AFAP1L2_ENST00000545353.1_Silent_p.S871S|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Silent_p.S818S	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	818					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TTGTTTTCTAACTTGCTCCTT	0.418000													41	117					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018704	58018704	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:58018704C>T	ENST00000282292.4	+	4	1381	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.P413L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GGAGCAAAGCCTTATGAGTGC	0.413000													32	103					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16297395	16297395	+	Silent	SNP	C	C	T	rs74315139		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:16297395C>T	ENST00000205557.7	-	8	899	c.870G>A	c.(868-870)cgG>cgA	p.R290R	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	290					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCTTCTTGCCGTAGGAAGG	0.562000													14	27					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69699715	69699715	+	Missense_Mutation	SNP	C	C	T	rs149687512		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:69699715C>T	ENST00000337103.4	+	11	2752	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	C8orf34_ENST00000518698.1_Missense_Mutation_p.P498L|C8orf34_ENST00000539993.1_Missense_Mutation_p.P412L|C8orf34_ENST00000325233.3_Missense_Mutation_p.P156L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	412					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTTCATCAACCATGGATCTTG	0.348000													5	22					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73156632	73156632	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:73156632G>A	ENST00000286657.4	-	20	2907	c.2871C>T	c.(2869-2871)agC>agT	p.S957S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	957	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGGCCGGCGGCTCTCGGGAC	0.567000													11	47					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402698	124402698	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:124402698C>T	ENST00000368909.3	+	53	7132	c.7026C>T	c.(7024-7026)ttC>ttT	p.F2342F	DMBT1_ENST00000368955.3_Silent_p.F2332F|DMBT1_ENST00000368956.2_Silent_p.F1714F|DMBT1_ENST00000330163.4_Silent_p.F1714F|DMBT1_ENST00000359586.6_Silent_p.F1062F|DMBT1_ENST00000338354.3_Silent_p.F2342F|DMBT1_ENST00000344338.3_Silent_p.F2332F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2342	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGCCCGCTTCCGGTTCAGGG	0.587000													36	56					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678585	2678585	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:2678585G>A	ENST00000274643.7	-	10	1251	c.909C>T	c.(907-909)ttC>ttT	p.F303F	MYLK4_ENST00000268446.5_Silent_p.F303F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	303	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTCACCCAGGAAAGGCGACA	0.502000													20	65					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689966	7689966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:7689966G>A	ENST00000572933.1	+	41	7887	c.6427G>A	c.(6427-6429)Gat>Aat	p.D2143N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2143N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2143	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAATGGACAGATGGCATCTT	0.557000													21	45					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021925	167021925	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:167021925C>T	ENST00000061240.2	+	21	3586	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L	TLL1_ENST00000507499.1_Missense_Mutation_p.S1003L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	980	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGAGATTCAGTTTTAATT	0.323000													26	65					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38916981	38916981	+	Silent	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:38916981A>G	ENST00000272252.5	+	4	831	c.579A>G	c.(577-579)gaA>gaG	p.E193E	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	193					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				atgaccatgaagtcaccatag	0.383000													13	45					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609122	609122	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:609122C>T	ENST00000264555.5	+	14	3794	c.3666C>T	c.(3664-3666)gcC>gcT	p.A1222A	PHRF1_ENST00000413872.2_Silent_p.A1220A|PHRF1_ENST00000416188.2_Silent_p.A1221A|PHRF1_ENST00000533464.1_Silent_p.A1218A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1222							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTGCCAGCCTTGGGGGAAG	0.697000													4	11					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62949871	62949871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:62949871C>T	ENST00000393630.3	+	26	3702	c.3311C>T	c.(3310-3312)tCa>tTa	p.S1104L	MON2_ENST00000393629.2_Missense_Mutation_p.S1103L|MON2_ENST00000552738.1_Missense_Mutation_p.S1080L|MON2_ENST00000280379.6_Missense_Mutation_p.S1104L|MON2_ENST00000393632.2_Missense_Mutation_p.S1103L|MON2_ENST00000546600.1_Missense_Mutation_p.S1103L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1104					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTCATCATTCAAGGGACACC	0.453000													14	34					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075510	106075510	+	Silent	SNP	G	G	A	rs138082433	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:106075510G>A	ENST00000278071.2	-	3	752	c.300C>T	c.(298-300)atC>atT	p.I100I	ITPRIP_ENST00000337478.1_Silent_p.I100I|ITPRIP_ENST00000358187.2_Silent_p.I100I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	100						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCACACCTCGATCATCAGGA	0.687000													22	77					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32345045	32345045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:32345045C>T	ENST00000375200.1	+	6	1198	c.833C>T	c.(832-834)cCc>cTc	p.P278L	ZNF341_ENST00000342427.2_Missense_Mutation_p.P278L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGACCAAACCCCGCCGCCCCC	0.622000													70	146					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275888	159275888	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:159275888G>A	ENST00000368115.1	+	5	541	c.442G>A	c.(442-444)Gat>Aat	p.D148N	FCER1A_ENST00000368114.1_Missense_Mutation_p.D115N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	148	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTATTATAAGGATGGTGAAGC	0.502000													24	104					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56963954	56963954	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:56963954C>T	ENST00000299721.3	-	3	645	c.459G>A	c.(457-459)gcG>gcA	p.A153A	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ACTTCTGCTCCGCTGTCTGCT	0.498000													13	31					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142890	31142890	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:31142890C>T	ENST00000304166.4	+	14	1375	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	ADCYAP1R1_ENST00000409489.1_Silent_p.F418F|ADCYAP1R1_ENST00000396211.2_Silent_p.F390F|ADCYAP1R1_ENST00000409363.1_Silent_p.F341F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	362					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCCCACTATTCGGAATCCACT	0.582000													42	91					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221676	17221676	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:17221676G>A	ENST00000261381.6	-	10	2154	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	690					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCAGCAAGGAAGTAGAGGT	0.522000													33	114					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288945	17288945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:17288945C>T	ENST00000331428.5	-	2	121	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	7						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCATCCATCTCTTCAAACACT	0.393000													36	70					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383349	61383349	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61383349G>A	ENST00000544088.1	+	0	500				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGAAACGAGGAAAACGATTA	0.358000													3	15					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75148085	75148085	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:75148085G>A	ENST00000300051.4	-	6	723	c.677C>T	c.(676-678)cCt>cTt	p.P226L	LDHD_ENST00000450168.2_Intron	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	226	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GGACACACAAGGTGAGTACCA	0.637000													24	131					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6719276	6719276	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:6719276T>G	ENST00000338694.2	-	4	491	c.362A>C	c.(361-363)aAg>aCg	p.K121T	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	121					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCCAATGCGCTTCTCCCTGGC	0.547000													11	29					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32030173	32030173	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32030173G>A	ENST00000375244.3	-	20	7130	c.6929C>T	c.(6928-6930)aCc>aTc	p.T2310I	TNXB_ENST00000375247.2_Missense_Mutation_p.T2310I			P22105	TENX_HUMAN	tenascin XB	2372	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCTGTCACGGTCAGCTCCTC	0.597000													14	22					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422929	95422929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:95422929G>A	ENST00000371447.3	+	21	2650	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	838					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E838K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGGAGGAGCCGAAAAAGGTTA	0.428000													6	17					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430323	29430323	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29430323G>A	ENST00000377136.1	+	4	1242	c.777G>A	c.(775-777)caG>caA	p.Q259Q	OR2H1_ENST00000377133.1_Silent_p.Q259Q|OR2H1_ENST00000442615.1_Silent_p.Q259Q|OR2H1_ENST00000377132.1_Silent_p.Q259Q|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Silent_p.Q259Q			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TCTACCTCCAGCCCAAAAATC	0.522000													39	98					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33357265	33357265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:33357265C>T	ENST00000334528.9	-	2	1384	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	FMN1_ENST00000558197.1_Missense_Mutation_p.S462N|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Missense_Mutation_p.S685N	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	685	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCAGTCAGGCTGTGGTCAGG	0.453000													40	101					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079088	74079088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:74079088G>A	ENST00000370363.1	-	3	538	c.46C>T	c.(46-48)Cca>Tca	p.P16S	OOEP_ENST00000370359.5_Missense_Mutation_p.P71S			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	71						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCCATTTCTGGAATTATGGCT	0.537000													9	9					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:1041878C>T	ENST00000360803.4	+	3	311	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000545048.1_Missense_Mutation_p.P30S	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	77					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000													18	20					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981156	75981156	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:75981156G>A	ENST00000308508.5	-	3	2342	c.2250C>T	c.(2248-2250)caC>caT	p.H750H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	750	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGTAAGCGTGGTGCTGTGGGT	0.642000													11	27					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438146	124438146	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:124438146C>T	ENST00000360013.3	+	60	8917	c.8790C>T	c.(8788-8790)gcC>gcT	p.A2930A	KALRN_ENST00000291478.4_Silent_p.A1233A|KALRN_ENST00000428018.2_Silent_p.A1201A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2929	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCACAGCAGCCACATGCTTGC	0.532000													12	51					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209145	34209145	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34209145C>T	ENST00000373381.4	-	14	2085	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	597	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGCCATAGTCCTCTGGGTAG	0.572000													17	48					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029462	93029462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:93029462G>A	ENST00000523629.1	-	3	672	c.218C>T	c.(217-219)cCg>cTg	p.P73L	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P36L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P46L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P73L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P84L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P36L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P36L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P36L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P46L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	73					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACACGTTGTCGGTGTAAATGA	0.388000													25	66					0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31584651	31584651	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:31584651A>G	ENST00000376059.3	+	6	564	c.418A>G	c.(418-420)Aag>Gag	p.K140E	AIF1_ENST00000376049.4_Missense_Mutation_p.K86E	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	140				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CCCCCCAGCCAAGAAAGCTAT	0.478000													17	48					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762804	105762804	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:105762804G>C	ENST00000369755.3	+	9	2413	c.1868G>C	c.(1867-1869)aGt>aCt	p.S623T	SLK_ENST00000335753.4_Missense_Mutation_p.S623T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	623	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAATAAACAGTTCAGAGAAC	0.388000													10	29					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684067	109684067	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109684067C>T	ENST00000338432.7	+	39	5504	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	ACACB_ENST00000377848.3_Silent_p.I1795I|ACACB_ENST00000377854.5_Silent_p.I1725I|ACACB_ENST00000543201.1_Silent_p.I461I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1795					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAATGACATCACCTTTCGCA	0.557000													20	56					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821147	5821147	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:5821147C>T	ENST00000381095.3	-	5	2199	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	NLGN4X_ENST00000381093.2_Missense_Mutation_p.M544I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M524I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.M524I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.M524I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	524					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.M524I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCCAGTAGGTCATGACCACGG	0.502000													33	43					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112294	18112294	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:18112294T>A	ENST00000403915.1	+	3	470	c.19T>A	c.(19-21)Ttc>Atc	p.F7I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.F7I			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	7					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTGAGTTTTTCCATCGCCC	0.522000													30	70					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510685	84510685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:84510685C>T	ENST00000360700.4	+	4	1386	c.500C>T	c.(499-501)tCa>tTa	p.S167L	ZNF711_ENST00000276123.3_Missense_Mutation_p.S167L|ZNF711_ENST00000373165.3_Missense_Mutation_p.S167L|ZNF711_ENST00000395402.1_Missense_Mutation_p.S145L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	167					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTAACTAATTCAGATACAGAA	0.418000													22	38					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921197	247921197	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247921197G>A	ENST00000408896.2	-	1	785	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGATATTGGAGGCACAGAA	0.483000													22	19					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21472327	21472327	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21472327C>T	ENST00000390670.3	-	2	270	c.33G>A	c.(31-33)caG>caA	p.Q11Q	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000452078.1_Intron			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	0					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ccactctttcctgttcttgct	0.403000													16	56					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143074	49143074	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49143074C>T	ENST00000084798.4	-	5	1217	c.538G>A	c.(538-540)Ggc>Agc	p.G180S	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	180						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		ATGGCCAGGCCATTGGGGCCG	0.627000													25	100					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179669645	179669645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:179669645G>A	ENST00000452135.2	-	8	1097	c.799C>T	c.(799-801)Cct>Tct	p.P267S	MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.P267S|MAPK9_ENST00000343111.6_Missense_Mutation_p.P267S|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.P267S			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	267	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATTCCAGGATACTTTGGT	0.368000													20	60					0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340328	34340328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:34340328C>T	ENST00000293280.2	-	4	393	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	CCL23_ENST00000591423.1_Missense_Mutation_p.R91Q	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	91					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	ACAGAAACGTCGCCCCTTCTT	0.532000													6	14					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652568	101652568	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:101652568C>T	ENST00000409318.1	-	9	1645	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V	TBC1D8_ENST00000376840.4_Silent_p.V490V	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	490	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GAAACATACACACGGTTCTGC	0.458000													39	106					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173933267	173933267	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:173933267G>A	ENST00000367696.2	-	11	2026	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	RC3H1_ENST00000367694.2_Missense_Mutation_p.P559S|RC3H1_ENST00000258349.4_Missense_Mutation_p.P559S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	559	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCCCCTTGGAGGTATAGAA	0.418000													13	67					0	0	1	0	0
NXF2B	728343	broad.mit.edu	37	X	101615563	101615563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:101615563C>T	ENST00000457521.2	-	34	3711	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	NXF2B_ENST00000412230.2_Missense_Mutation_p.E614K|NXF2B_ENST00000372749.1_Missense_Mutation_p.E614K|NXF2B_ENST00000372752.1_3'UTR|NXF2B_ENST00000372750.1_Missense_Mutation_p.E614K					nuclear RNA export factor 2B									p.E614*(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						ATCTTGCCCTCGGTCTAGAGA	0.507000													19	94					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844967	54844967	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54844967A>T	ENST00000291759.4	-	8	1432	c.1376T>A	c.(1375-1377)tTc>tAc	p.F459Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	459						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AATCCCGAGGAACAGCAGGAC	0.562000													15	55					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29012589G>A	ENST00000377175.1	-	1	428	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)|p.R122S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000													13	45					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27440325	27440325	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:27440325C>G	ENST00000263980.3	-	2	1380	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Missense_Mutation_p.V269L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	269					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ACCACAGTGACGGCGTCATTG	0.557000													12	44					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874403	39874403	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:39874403G>A	ENST00000260356.5	+	3	242	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	26	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTCTGGCGGAGACAACAGC	0.602000													13	26					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686094	108686094	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:108686094G>A	ENST00000312143.7	-	3	1009	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R216W|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R214W|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R216W|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R214W	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	216					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCATGTGCCGGCTATACCCC	0.567000													16	36					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924388	70924388	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:70924388C>T	ENST00000603540.1	+	2	430	c.172C>T	c.(172-174)Cct>Tct	p.P58S	ADAM21_ENST00000267499.3_Missense_Mutation_p.P58S|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	58					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCAAAGGCTCCTGGATGGCT	0.537000													14	156					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85748118	85748118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:85748118C>T	ENST00000322366.6	-	10	1380	c.973G>A	c.(973-975)Gag>Aag	p.E325K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E325K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	325						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGCCTCTTTTGCTTGT	0.328000													15	50					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465047	48465047	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:48465047G>A	ENST00000358536.4	-	3	1243	c.974C>T	c.(973-975)cCc>cTc	p.P325L	PLXNB1_ENST00000296440.6_Missense_Mutation_p.P325L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P325L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P325L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	325	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCATCCAGGGGGAAGGCACA	0.657000													10	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:138373853G>A	ENST00000409968.1	+	18	3710	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000													49	121					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8420999	8420999	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:8420999A>G	ENST00000379660.4	-	6	1086	c.637T>C	c.(637-639)Ttt>Ctt	p.F213L	SLC35B3_ENST00000339306.5_Missense_Mutation_p.F213L	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	213					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GCGAGGGTAAACCATATCAGG	0.378000													20	77					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111199	57111199	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57111199G>A	ENST00000454682.1	-	3	4396	c.4115C>T	c.(4114-4116)cCa>cTa	p.P1372L	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTTGCAGCTGGGGGAGTGGG	0.607000			T	BCL6	NHL								6	17					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418992	13418992	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:13418992G>A	ENST00000360228.5	-	14	1854	c.1855C>T	c.(1855-1857)Ctc>Ttc	p.L619F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L620F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	620					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGAAAAGGAGAAACAACAGG	0.537000													11	35					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	129527	129527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:129527C>T	ENST00000219431.4	+	3	374	c.143C>T	c.(142-144)tCg>tTg	p.S48L	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_Missense_Mutation_p.S31L	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	48					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACACAGCTCGTCCGATGCA	0.657000								Base excision repair (BER), DNA glycosylases					19	43					0	0	1	0	0
FAM20C	56975	broad.mit.edu	37	7	195722	195722	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:195722C>T	ENST00000313766.5	+	2	1005	c.774C>T	c.(772-774)atC>atT	p.I258I	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	258						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCCAGAGGATCACCAGCGTGG	0.607000													10	48					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144672217	144672217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:144672217G>A	ENST00000532741.1	-	1	413	c.185C>T	c.(184-186)aCc>aTc	p.T62I	EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.T12I|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.T12I|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	10					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTCCCACACGGTCTCCAGGGT	0.647000													10	26					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417869	150417869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150417869G>A	ENST00000307194.5	+	3	917	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCGCCTGGCTGTCGGCCC	0.746000													2	4					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281780	125281780	+	Missense_Mutation	SNP	G	G	A	rs116874912	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:125281780G>A	ENST00000340750.1	+	1	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AATGGCATACGATCGGTATGT	0.433000													71	59					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587497	200587497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200587497G>A	ENST00000367350.4	-	2	793	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	119	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGTAATGTAAGACGTGTTTCT	0.393000													24	96					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471539	121471539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:121471539G>A	ENST00000257570.5	-	2	476	c.206C>T	c.(205-207)tCc>tTc	p.S69F	OASL_ENST00000339275.5_Missense_Mutation_p.S69F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	69					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTCCCGAAGGAGCCCACCTG	0.597000													36	61					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116280940	116280940	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:116280940A>G	ENST00000261448.5	-	4	676	c.437T>C	c.(436-438)gTg>gCg	p.V146A	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	146					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GATGATCTCCACTGGGTCTTC	0.443000													50	131					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268954	100268954	+	RNA	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100268954G>A	ENST00000515683.1	-	0	419				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCTCAATGGAAAAGGGTTT	0.393000													22	53					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316872	203316872	+	Missense_Mutation	SNP	C	C	T	rs145322178		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:203316872C>T	ENST00000354955.4	-	2	990	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	176					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCAGGGATCGAGGCAGGGG	0.597000													75	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582076	179582076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179582076G>A	ENST00000589042.1	-	88	25609	c.25385C>T	c.(25384-25386)cCt>cTt	p.P8462L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8145L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7218L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8145	Ig-like 67.						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)			TACTGATACAGGCTTTAGATC	0.398000													18	35					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087276	39087276	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:39087276T>G	ENST00000400482.3	-	3	773	c.184A>C	c.(184-186)Aag>Cag	p.K62Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.K62Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	62					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACATTGCACTTTCCGTCTTTC	0.502000													40	108					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1559958	1559958	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:1559958A>C	ENST00000572621.1	-	34	5868	c.5603T>G	c.(5602-5604)aTg>aGg	p.M1868R	PRPF8_ENST00000304992.6_Missense_Mutation_p.M1868R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1868	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGGTCCAGCATGCCCTTCCT	0.547000													10	30					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633147	80633147	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80633147T>G	ENST00000458043.2	+	10	959	c.953T>G	c.(952-954)tTt>tGt	p.F318C	OTOGL_ENST00000547103.1_Missense_Mutation_p.F318C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTTGCAGTTTCCTTTTCTG	0.353000													26	58					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169505758	169505758	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:169505758C>T	ENST00000367796.3	-	14	5173	c.4972G>A	c.(4972-4974)Gat>Aat	p.D1658N	F5_ENST00000367797.3_Missense_Mutation_p.D1653N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1653	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAACATCATCCACTTCAGCT	0.453000													13	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234321	21234321	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21234321C>T	ENST00000233242.1	-	26	5546	c.5419G>A	c.(5419-5421)Gat>Aat	p.D1807N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1807					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGTGAGATCCAGAGCATTG	0.393000													54	112					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24759283	24759283	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:24759283C>A	ENST00000314328.9	+	12	3083	c.2798C>A	c.(2797-2799)cCt>cAt	p.P933H	SPECC1L_ENST00000437398.1_Missense_Mutation_p.P933H|KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.P933H	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	933					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCAAGAGTGCCTGCGATGGAA	0.438000													14	49					2.61681e-11	2.65166e-11	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113325639	113325639	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113325639G>A	ENST00000389385.4	+	17	1971	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	RPH3A_ENST00000551052.1_Missense_Mutation_p.E488K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E443K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E443K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.E492K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E492K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E492K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	492	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGCCACAATGAATTTATTGG	0.463000													46	121					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	C	T	rs148365070	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:147120535C>T	ENST00000383075.3	-	2	562	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	ZIC4_ENST00000491672.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.R17Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.R55Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.R67Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.R17Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000													37	92					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330332	34330332	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34330332G>A	ENST00000522796.1	+	4	2445	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.G180G			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTGCAGAGGGAAAAGAGTCA	0.453000													12	32					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47800616	47800616	+	Silent	SNP	G	G	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:47800616G>A	ENST00000591416.1	-	11	1517	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MBD1_ENST00000269471.5_Silent_p.F339F|MBD1_ENST00000591535.1_Silent_p.F339F|MBD1_ENST00000424334.2_Silent_p.F413F|MBD1_ENST00000353909.3_Silent_p.F313F|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Silent_p.F362F|MBD1_ENST00000436910.1_Silent_p.F339F|MBD1_ENST00000585595.1_Silent_p.F387F|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269468.5_Silent_p.F362F|MBD1_ENST00000585672.1_Silent_p.F312F|MBD1_ENST00000457839.2_Silent_p.F387F|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000590208.1_Silent_p.F362F|MBD1_ENST00000588937.1_Silent_p.F339F|MBD1_ENST00000339998.6_Silent_p.F362F|MBD1_ENST00000349085.2_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	362					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCTGCCCCCGAATTTGGGCT	0.642000													18	54					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27917999	27917999	+	Silent	SNP	C	C	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:27917999C>T	ENST00000413272.2	-	8	1183	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	NUGGC_ENST00000341513.6_Silent_p.R347R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GGGCCACGTCCCTACAGAAGC	0.562000											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195514	3195514	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:3195514C>A	ENST00000323404.1	-	1	362	c.363G>T	c.(361-363)atG>atT	p.M121I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGTCATAGGCCATGGCGGTCA	0.607000													15	55					0.0202918	0.02033	1	1	0
SLC39A2	29986	broad.mit.edu	37	14	21469491	21469491	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21469491T>A	ENST00000298681.4	+	4	840	c.683T>A	c.(682-684)aTa>aAa	p.I228K	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	228						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTGTTCTCCATACTATTATTA	0.567000													19	49					0	0	1	0	0
RP11-739N20.2	0	broad.mit.edu	37	1	204363978	204363979	+	RNA	INS	-	-	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:204363978_204363979insA	ENST00000443515.1	+	0	146																											gatttgtttttcaaaaaaaaaa	0.302													3	6	---	---	---	---					
ZKSCAN7	55888	broad.mit.edu	37	3	44607049	44607051	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:44607049_44607051delCTC	ENST00000273320.3	+	3	923_925	c.494_496delCTC	c.(493-498)tct>t	p.SP165del	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.SP165del|ZKSCAN7_ENST00000341840.3_In_Frame_Del_p.SP165del|ZKSCAN7_ENST00000431636.1_In_Frame_Del_p.SP165del	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ACAAAGGAATCTCCTCCTACCTC	0.552													11	142	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													5	7	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													3	2	---	---	---	---					
MPPED2	744	broad.mit.edu	37	11	30601881	30601881	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:30601881delT	ENST00000448418.2	-	2	400	c.40delA	c.(40-42)cgfs	p.T14fs	MPPED2_ENST00000358117.5_Frame_Shift_Del_p.T14fs	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	14					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TCATCCACCGTTATGGTAACT	0.473													29	42	---	---	---	---					
CD44	960	broad.mit.edu	37	11	35208378	35208396	+	Splice_Site	DEL	GCTCCACCTGAAGAAGATT	GCTCCACCTGAAGAAGATT	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:35208378_35208396delGCTCCACCTGAAGAAGATT	ENST00000263398.6	+	4	801_819	c.367_splice	c.e4-1	p.APPEEDC123_splice	CD44_ENST00000352818.4_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000360158.4_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000449691.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000437706.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000434472.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000433892.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000433354.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000428726.2_Splice_Site_p.APPEEDC123_splice|CD44_ENST00000526669.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Splice_Site_p.APPEEDC123_splice	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	123					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTACCTCATAGCTCCACCTGAAGAAGATTGTACATCAGT	0.352													8	59	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	RNA	DEL	T	T	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378													2	4	---	---	---	---					
IGHV1-24	28467	broad.mit.edu	37	14	106733154	106733156	+	RNA	DEL	TAA	TAA	-	rs141629050	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106733154_106733156delTAA	ENST00000390610.2	-	0	398_400																											TGTTGCACAGTAATACACGGCCG	0.527													103	428	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28844621	28844622	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:28844621_28844622insC	ENST00000336783.4	+	14	2068_2069	c.1901_1902insC	c.(1900-1902)accfs	p.T634fs	ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.T640fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.T634fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.T634fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	634						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAAACTGGCAGCCCCCCGGTGG	0.629													23	94	---	---	---	---