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
FLT1	2321	broad.mit.edu	37	13	28959130	28959130	+	Missense_Mutation	SNP	G	G	A	rs115349395	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:28959130G>A	ENST00000282397.4	-	14	2259	c.2008C>T	c.(2008-2010)Cac>Tac	p.H670Y	FLT1_ENST00000541932.1_Missense_Mutation_p.H670Y	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	670	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCCACTGTGTGATCACTGAGG	0.438000													20	93					0	0	0.008871	0	0
WDR24	84219	broad.mit.edu	37	16	735547	735547	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:735547C>T	ENST00000293883.4	-	7	2488	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	WDR24_ENST00000248142.6_Missense_Mutation_p.E707K	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	707										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCCACGATCTCGTGGCGCAGC	0.711000													9	22					0	0	0.004482	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364686	47364686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:47364686C>A	ENST00000545968.1	-	15	1291	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	MYBPC3_ENST00000399249.2_Nonsense_Mutation_p.E413*|MYBPC3_ENST00000256993.4_Nonsense_Mutation_p.E412*	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	412	Ig-like C2-type 2.				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			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)		CCGATGGACTCAAAGATGTAC	0.647000													5	15					3.59834e-05	3.80694e-05	0.001168	1	0
ZNF285	26974	broad.mit.edu	37	19	44891738	44891738	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:44891738A>C	ENST00000330997.4	-	4	733	c.669T>G	c.(667-669)aaT>aaG	p.N223K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.N230K|ZNF285_ENST00000544719.2_Missense_Mutation_p.N223K	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CATGGGCCGCATTACGTTTTT	0.468000													17	64					0	0	0.004990	0	0
MVP	9961	broad.mit.edu	37	16	29847108	29847108	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:29847108C>T	ENST00000357402.5	+	6	799	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	MVP_ENST00000452209.2_Missense_Mutation_p.P35L|MVP_ENST00000395353.1_Missense_Mutation_p.L221F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	221					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						CGCCGTCATCCTTACGGAAAA	0.577000													12	28					0	0	0.010729	0	0
CNTN6	27255	broad.mit.edu	37	3	1427434	1427434	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:1427434G>T	ENST00000446702.2	+	20	3284	c.2657G>T	c.(2656-2658)gGg>gTg	p.G886V	CNTN6_ENST00000350110.2_Missense_Mutation_p.G886V|CNTN6_ENST00000539053.1_Missense_Mutation_p.G814V			Q9UQ52	CNTN6_HUMAN	contactin 6	886	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACACTGCTGGGACAGGGCCC	0.448000													18	128					3.51602e-12	3.83088e-12	0.008871	1	0
AMHR2	269	broad.mit.edu	37	12	53818187	53818187	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53818187C>T	ENST00000257863.4	+	2	245	c.165C>T	c.(163-165)tgC>tgT	p.C55C	AMHR2_ENST00000550311.1_Silent_p.C55C|AMHR2_ENST00000379791.3_Silent_p.C55C	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	55					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CTATCCGCTGCCTCTACAGCC	0.562000													41	26					0	0	0.005524	0	0
PRKRA	8575	broad.mit.edu	37	2	179296927	179296927	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:179296927G>A	ENST00000325748.4	-	8	1039	c.839C>T	c.(838-840)cCc>cTc	p.P280L	AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000454488.1_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.P255L|PRKRA_ENST00000438687.3_Missense_Mutation_p.P167L|PRKRA_ENST00000432031.2_Missense_Mutation_p.P269L	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	280	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GACTGTGATGGGGCTGGTGGA	0.423000													7	58					0	0	0.003080	0	0
CD63	967	broad.mit.edu	37	12	56120694	56120694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120694C>T	ENST00000549117.1	-	4	746	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	CD63_ENST00000548898.1_Missense_Mutation_p.G11S|CD63_ENST00000420846.3_Missense_Mutation_p.G104S|CD63_ENST00000548160.1_Missense_Mutation_p.G11S|CD63_ENST00000552692.1_Missense_Mutation_p.G104S|CD63_ENST00000552754.1_Missense_Mutation_p.G81S|CD63_ENST00000546939.1_Missense_Mutation_p.G22S|CD63_ENST00000257857.4_Missense_Mutation_p.G104S|CD63_ENST00000550776.1_Missense_Mutation_p.G22S|CD63_ENST00000552067.1_Missense_Mutation_p.G11S	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	104					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AACACATAGCCAGCAATGGCT	0.507000													185	139					0	0	0.003610	0	0
EIF4G3	8672	broad.mit.edu	37	1	21155695	21155695	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:21155695C>T	ENST00000602326.1	-	29	4565	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E926K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1322K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1042K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1328K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1322K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E812K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1322	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCACCAGTTCAGCAAGGTAC	0.388000													12	62					0	0	0.003163	0	0
RNF165	494470	broad.mit.edu	37	18	44013175	44013175	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:44013175G>A	ENST00000269439.7	+	2	135	c.84G>A	c.(82-84)caG>caA	p.Q28Q	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	28							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AAAGGTCTCAGCATCCTCACG	0.682000													6	18					0	0	0.003080	0	0
RTTN	25914	broad.mit.edu	37	18	67742749	67742749	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:67742749C>G	ENST00000255674.6	-	33	4689	c.4403G>C	c.(4402-4404)gGc>gCc	p.G1468A	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.G1468A	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1468							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGCGATAGGCCAGAGTCCTC	0.423000													16	70					0	0	0.004007	0	0
FAM168A	23201	broad.mit.edu	37	11	73141787	73141787	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:73141787G>A	ENST00000064778.4	-	3	383	c.99C>T	c.(97-99)gcC>gcT	p.A33A	FAM168A_ENST00000356467.4_Silent_p.A33A|FAM168A_ENST00000450446.2_Silent_p.A33A			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	33										endometrium(3)|kidney(1)|lung(1)	5						TGTAGGCAGGGGCAGCTGCTG	0.463000													34	75					0	0	0.003271	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:41414529C>T	ENST00000400454.1	-	32	5932	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1819					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)				TTGGCGTGTTCGTAGGCCCTG	0.527000													28	60					0	0	0.006320	0	0
GPR112	139378	broad.mit.edu	37	X	135427472	135427472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:135427472C>T	ENST00000394143.1	+	6	1898	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	GPR112_ENST00000287534.4_Missense_Mutation_p.S473F|GPR112_ENST00000412101.1_Missense_Mutation_p.S331F|GPR112_ENST00000394141.1_Missense_Mutation_p.S331F|GPR112_ENST00000370652.1_Missense_Mutation_p.S536F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	536					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGATGTCTCTTTACCCAGA	0.433000													9	21					0	0	0.004482	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299402	117299402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:117299402C>T	ENST00000321322.6	-	33	5985	c.5984G>A	c.(5983-5985)cGa>cAa	p.R1995Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1725Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1935	Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGTAGGTTCGAGCCAGGTT	0.677000													7	22					0	0	0.001984	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180998	57180998	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:57180998C>T	ENST00000504228.1	+	6	1435	c.1330C>T	c.(1330-1332)Cac>Tac	p.H444Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.H444Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.H437Y			Q6ZU35	K1211_HUMAN	KIAA1211	444	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACAAAGAGAACACTCCGAGGA	0.612000													5	21					0	0	0.001984	0	0
DSP	1832	broad.mit.edu	37	6	7568801	7568801	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:7568801C>T	ENST00000379802.3	+	11	1739	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	DSP_ENST00000418664.2_Silent_p.L466L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	466	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGAGCTCTCTGTGACTACA	0.383000													14	40					0	0	0.004990	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220647	50220647	+	Silent	SNP	C	C	T	rs145957797		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:50220647C>T	ENST00000002829.3	+	11	1531	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	SEMA3F_ENST00000413852.1_Silent_p.D250D|SEMA3F_ENST00000434342.1_Silent_p.D318D	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	349	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGACCCAGGACGTGAGGAACC	0.632000													9	72					0	0	0.010729	0	0
ZEB2	9839	broad.mit.edu	37	2	145161624	145161624	+	Silent	SNP	G	G	A	rs146662449		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:145161624G>A	ENST00000558170.2	-	6	1850	c.666C>T	c.(664-666)cgC>cgT	p.R222R	ZEB2_ENST00000539609.3_Silent_p.R198R|ZEB2_ENST00000409487.3_Silent_p.R222R|ZEB2_ENST00000303660.4_Silent_p.R222R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	222						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGATGTCAAGCGCTTGTAGC	0.557000													23	90					0	0	0.002780	0	0
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:122726544C>T	ENST00000227348.4	+	5	679	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368000													7	28					0	0	0.001984	0	0
WAPAL	23063	broad.mit.edu	37	10	88230843	88230843	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:88230843G>A	ENST00000298767.5	-	8	2520	c.2048C>T	c.(2047-2049)aCt>aTt	p.T683I		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	683	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGCACATTTAGTAGCCAAGCT	0.423000													21	17					0	0	0.004656	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365337	128365337	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:128365337A>T	ENST00000262462.4	+	9	2630	c.1620A>T	c.(1618-1620)aaA>aaT	p.K540N	SLC27A6_ENST00000506176.1_Missense_Mutation_p.K540N|SLC27A6_ENST00000395266.1_Missense_Mutation_p.K540N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	540					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATTTGGAAAAAGTTTATGAAC	0.294000													15	34					0	0	0.003163	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321569	179321569	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:179321569C>T	ENST00000356834.3	-	4	431	c.394G>A	c.(394-396)Gag>Aag	p.E132K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E132K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	132						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.E132K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGGTCCTCGTCTCCCTGG	0.572000													14	87					0	0	0.002450	0	0
XIRP2	129446	broad.mit.edu	37	2	168100621	168100621	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:168100621G>A	ENST00000409195.1	+	9	2808	c.2719G>A	c.(2719-2721)Ggg>Agg	p.G907R	XIRP2_ENST00000409273.1_Missense_Mutation_p.G685R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G907R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	732					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						AGAAGAAAAAGGGGATGTTAG	0.353000													6	38					0	0	0.001984	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812881	45812881	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:45812881C>T	ENST00000358525.4	-	6	878	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	SLC6A20_ENST00000456124.2_Missense_Mutation_p.G255S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G218S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	255					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCCGAAGCCCAGGCCAAGT	0.572000													28	48					0	0	0.004656	0	0
DEFB114	245928	broad.mit.edu	37	6	49928114	49928114	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:49928114C>T	ENST00000322066.3	-	2	100	c.101G>A	c.(100-102)gGt>gAt	p.G34D		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	34					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTACAACGACCGTAACGTTT	0.353000													8	22					0	0	0.004482	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058642	67058642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:67058642G>A	ENST00000295568.4	+	4	1692	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	KBTBD8_ENST00000417314.2_Missense_Mutation_p.E547K|KBTBD8_ENST00000460576.1_Missense_Mutation_p.E105K	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	547										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)		GACTGTTGAAGAACACGTCTT	0.413000													16	84					0	0	0.004990	0	0
XPOT	11260	broad.mit.edu	37	12	64813917	64813917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64813917C>A	ENST00000332707.5	+	7	1086	c.557C>A	c.(556-558)tCa>tAa	p.S186*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	186	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CTGGTGGAATCATGGTACCAA	0.383000													41	33					2.87052e-16	3.14322e-16	0.005524	1	0
ZNF160	90338	broad.mit.edu	37	19	53572226	53572226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:53572226G>A	ENST00000601421.1	-	3	2329	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C	ZNF160_ENST00000429604.1_Missense_Mutation_p.R521C|ZNF160_ENST00000599056.1_Missense_Mutation_p.R521C|ZNF160_ENST00000418871.1_Missense_Mutation_p.R521C			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	521					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R521C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGACTTGAACGAACACTGAAG	0.398000													12	58					0	0	0.001368	0	0
OR4A15	81328	broad.mit.edu	37	11	55135990	55135990	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:55135990C>T	ENST00000314706.3	+	1	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGATTTGTATCCCTTATTGAA	0.418000													34	75					0	0	0.002836	0	0
CNTN4	152330	broad.mit.edu	37	3	2944657	2944657	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:2944657T>G	ENST00000397461.1	+	11	1559	c.1175T>G	c.(1174-1176)gTt>gGt	p.V392G	CNTN4_ENST00000418658.1_Missense_Mutation_p.V392G|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Missense_Mutation_p.V64G|CNTN4_ENST00000448906.2_Missense_Mutation_p.V64G|CNTN4_ENST00000358480.3_Missense_Mutation_p.V173G|CNTN4_ENST00000427331.1_Missense_Mutation_p.V392G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	392	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAACATGGAGTTATCTTTTCC	0.353000													3	31					0	0	0.004672	0	0
ADAM28	10863	broad.mit.edu	37	8	24207459	24207459	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:24207459C>A	ENST00000397649.3	+	19	2220	c.1318C>A	c.(1318-1320)Cag>Aag	p.Q440K	ADAM28_ENST00000265769.4_Silent_p.S691S|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA			Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	527	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACCAGAGCTCCAGAGAAAAGC	0.443000													28	135					2.14196e-07	2.29945e-07	0.007291	1	0
AAAS	8086	broad.mit.edu	37	12	53702545	53702545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702545G>A	ENST00000209873.4	-	11	1216	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	AAAS_ENST00000394384.3_Missense_Mutation_p.P318S|AAAS_ENST00000550286.1_Missense_Mutation_p.P227S	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	351					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TAAATCAGTGGCTCTCCCAAT	0.517000													64	156					0	0	0.003610	0	0
INHBB	3625	broad.mit.edu	37	2	121107115	121107115	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:121107115G>A	ENST00000295228.3	+	2	935	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	297					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCTGGAGTGCGATGGCCGGAC	0.622000													15	93					0	0	0.003163	0	0
CD63	967	broad.mit.edu	37	12	56120577	56120577	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120577C>T	ENST00000549117.1	-	5	769	c.333G>A	c.(331-333)gtG>gtA	p.V111V	CD63_ENST00000548898.1_Silent_p.V18V|CD63_ENST00000420846.3_Silent_p.V111V|CD63_ENST00000548160.1_Silent_p.V18V|CD63_ENST00000552692.1_Silent_p.V111V|CD63_ENST00000552754.1_Silent_p.V88V|CD63_ENST00000546939.1_Silent_p.V29V|CD63_ENST00000257857.4_Silent_p.V111V|CD63_ENST00000550776.1_Silent_p.V29V|CD63_ENST00000552067.1_Silent_p.V18V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	111					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACTCTGACATCACCTGAGAGT	0.517000													126	105					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104089541	104089541	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:104089541G>A	ENST00000388887.2	+	33	3705	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1167	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCAATTGAGGCTGCCGATG	0.463000													15	38					0	0	0.004007	0	0
TAC1	6863	broad.mit.edu	37	7	97363116	97363116	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:97363116G>C	ENST00000319273.5	+	3	502	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	TAC1_ENST00000346867.4_Missense_Mutation_p.G69R|TAC1_ENST00000350485.4_Missense_Mutation_p.G69R	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	69					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGGATTAATGGGCAAACGGGA	0.592000													13	86					0	0	0.003163	0	0
IQCF1	132141	broad.mit.edu	37	3	51937003	51937003	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:51937003C>T	ENST00000310914.5	-	2	168	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	36										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTCCTACCTCTGCCTTTGAC	0.493000													151	278					0	0	0.003610	0	0
CD63	967	broad.mit.edu	37	12	56121051	56121051	+	Missense_Mutation	SNP	C	C	T	rs144910349		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56121051C>T	ENST00000549117.1	-	3	575	c.139G>A	c.(139-141)Gct>Act	p.A47T	CD63_ENST00000420846.3_Missense_Mutation_p.A47T|CD63_ENST00000552692.1_Missense_Mutation_p.A47T|CD63_ENST00000552754.1_Missense_Mutation_p.A24T|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.A47T|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	47					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCAGGGGTAGCCCCCTGGATT	0.577000													95	76					0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	165954028	165954028	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:165954028C>T	ENST00000360093.3	-	23	4464	c.3973G>A	c.(3973-3975)Gtg>Atg	p.V1325M	SCN3A_ENST00000283254.7_Missense_Mutation_p.V1325M|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1276M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1325						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGAGCATTCACAACCACCTAG	0.393000													5	41					0	0	0.000602	0	0
TAC1	6863	broad.mit.edu	37	7	97365643	97365643	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:97365643G>A	ENST00000319273.5	+	6	619	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	TAC1_ENST00000346867.4_Missense_Mutation_p.G93S|TAC1_ENST00000350485.4_Intron	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	108					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGGACTAATGGGCAAAAGAGC	0.269000													40	223					0	0	0.011902	0	0
DSG4	147409	broad.mit.edu	37	18	28992864	28992864	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:28992864G>A	ENST00000359747.4	+	15	2515	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G810E	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	810					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACCACGAGGGAGTCGGGTCT	0.413000													34	51					0	0	0.003755	0	0
PHACTR2	9749	broad.mit.edu	37	6	144095218	144095218	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:144095218C>T	ENST00000427704.2	+	8	1552	c.1422C>T	c.(1420-1422)cgC>cgT	p.R474R	PHACTR2_ENST00000367582.3_Silent_p.R405R|PHACTR2_ENST00000305766.6_Silent_p.R394R|PHACTR2_ENST00000440869.2_Silent_p.R485R|PHACTR2_ENST00000367584.4_Silent_p.R462R	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	474							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GTAAAATACGCCGGAGGGATA	0.458000													8	18					0	0	0.003080	0	0
PHLDB2	90102	broad.mit.edu	37	3	111564751	111564751	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:111564751G>C	ENST00000393923.3	+	2	291	c.36G>C	c.(34-36)aaG>aaC	p.K12N	PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGTGCCCAAGGAAGATGGAG	0.438000													14	67					0	0	0.002450	0	0
FLG2	388698	broad.mit.edu	37	1	152325251	152325251	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152325251C>T	ENST00000388718.5	-	3	5083	c.5011G>A	c.(5011-5013)Gga>Aga	p.G1671R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1671							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)			TGAGTGTGTCCTGTATGTGTG	0.502000													54	251					0	0	0.003610	0	0
KCNH2	3757	broad.mit.edu	37	7	150674991	150674991	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:150674991C>T	ENST00000262186.5	-	1	412	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	KCNH2_ENST00000430723.3_Missense_Mutation_p.R4Q	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	4					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGGCCCCTCCGCACCGGCAT	0.756000													6	93					0	0	0.003080	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783890	33783890	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:33783890C>T	ENST00000403687.3	+	17	2597	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	RASGRP3_ENST00000407811.1_Silent_p.V618V|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.V619V	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	619					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTGAACCTGTCTGGTCAGAGG	0.547000													16	83					0	0	0.003163	0	0
GALNT9	50614	broad.mit.edu	37	12	132682405	132682405	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:132682405G>A	ENST00000328957.8	-	10	1596	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	GALNT9_ENST00000535228.1_Missense_Mutation_p.R284C|GALNT9_ENST00000541995.1_Missense_Mutation_p.R167C|GALNT9_ENST00000397325.2_Missense_Mutation_p.R167C	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	533	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GTGGGCATGCGGCCCGTGCCG	0.657000													7	9					0	0	0.001984	0	0
KNG1	3827	broad.mit.edu	37	3	186459368	186459368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:186459368G>A	ENST00000265023.4	+	10	1395	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	KNG1_ENST00000287611.2_Missense_Mutation_p.E395K|KNG1_ENST00000447445.1_Missense_Mutation_p.E359K|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	395					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACGAATAGGGGAAATAAAAGA	0.408000													11	46					0	0	0.008291	0	0
IGHG4	3503	broad.mit.edu	37	14	106090957	106090957	+	RNA	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr14:106090957G>A	ENST00000390543.2	-	0	839																											AGGAGCCGTCGGAGTCCAGCA	0.602000													63	386					0	0	0.003610	0	0
CLDN4	1364	broad.mit.edu	37	7	73246112	73246112	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:73246112C>T	ENST00000435050.1	+	2	3261	c.581C>T	c.(580-582)tCc>tTc	p.S194F	CLDN4_ENST00000340958.2_Missense_Mutation_p.S194F|CLDN4_ENST00000431918.1_Missense_Mutation_p.S194F			O14493	CLD4_HUMAN	claudin 4	194					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				AAGCCTTACTCCGCCAAGTAT	0.627000													17	60					0	0	0.006122	0	0
SLC44A5	204962	broad.mit.edu	37	1	75693533	75693533	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:75693533T>C	ENST00000370855.5	-	13	976	c.863A>G	c.(862-864)cAc>cGc	p.H288R	SLC44A5_ENST00000370859.3_Missense_Mutation_p.H288R|SLC44A5_ENST00000535611.1_Missense_Mutation_p.H158R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTGGTAACAGTGCCATATTCC	0.338000													9	35					0	0	0.006214	0	0
PTPRT	11122	broad.mit.edu	37	20	41306658	41306658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:41306658C>T	ENST00000373198.3	-	7	1236	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W334*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W334*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W334*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	334	Fibronectin type-III 1.				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)				GGTCTCTGCCCACGTGCCTGT	0.557000													42	100					0	0	0.008740	0	0
CD63	967	broad.mit.edu	37	12	56120544	56120544	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120544C>T	ENST00000549117.1	-	5	802	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CD63_ENST00000548898.1_Silent_p.Q29Q|CD63_ENST00000420846.3_Silent_p.Q122Q|CD63_ENST00000548160.1_Silent_p.Q29Q|CD63_ENST00000552692.1_Silent_p.Q122Q|CD63_ENST00000552754.1_Silent_p.Q99Q|CD63_ENST00000546939.1_Silent_p.Q40Q|CD63_ENST00000257857.4_Silent_p.Q122Q|CD63_ENST00000550776.1_Silent_p.Q40Q|CD63_ENST00000552067.1_Silent_p.Q29Q	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	122					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AATTCTCCATCTGCTGCCGGA	0.537000													91	95					0	0	0.003610	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217172	150217172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:150217172G>A	ENST00000313543.4	+	2	267	c.110G>A	c.(109-111)aGa>aAa	p.R37K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	37							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGATTCTAGAATTGCTGCC	0.502000													87	31					0	0	0.003610	0	0
OR11L1	391189	broad.mit.edu	37	1	248004723	248004723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:248004723G>A	ENST00000355784.2	-	1	531	c.476C>T	c.(475-477)cCt>cTt	p.P159L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATCAGGGAAGGCAGAAAGCC	0.567000													21	94					0	0	0.010504	0	0
CD63	967	broad.mit.edu	37	12	56120529	56120529	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120529C>T	ENST00000549117.1	-	5	817	c.381G>A	c.(379-381)ccG>ccA	p.P127P	CD63_ENST00000548898.1_Silent_p.P34P|CD63_ENST00000420846.3_Silent_p.P127P|CD63_ENST00000548160.1_Silent_p.P34P|CD63_ENST00000552692.1_Silent_p.P127P|CD63_ENST00000552754.1_Silent_p.P104P|CD63_ENST00000546939.1_Silent_p.P45P|CD63_ENST00000257857.4_Silent_p.P127P|CD63_ENST00000550776.1_Silent_p.P45P|CD63_ENST00000552067.1_Silent_p.P34P	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	127					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGTTGTTTTTCGGGTAATTCT	0.507000													83	89					0	0	0.003610	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:22473063C>T	ENST00000557788.2	-	0	207																											TGATAGATTTCCCCAATCCAC	0.567000													48	134					0	0	0.003610	0	0
AMHR2	269	broad.mit.edu	37	12	53817752	53817752	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53817752C>T	ENST00000257863.4	+	1	114	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	AMHR2_ENST00000550311.1_Missense_Mutation_p.P12S|AMHR2_ENST00000379791.3_Missense_Mutation_p.P12S	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	12					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCATTACTTCCCACAGCTGT	0.562000													49	45					0	0	0.003610	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47641991	47641991	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:47641991G>A	ENST00000371917.4	+	36	4897	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1633					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)			CTCCAATTACGAGCAGCGGAC	0.473000													10	50					0	0	0.001855	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513784	14513784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:14513784C>T	ENST00000454876.2	+	10	1497	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L390F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	390					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTGGTCCATTCTTTTTTTTAT	0.527000													20	47					0	0	0.003330	0	0
XPOT	11260	broad.mit.edu	37	12	64815126	64815126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64815126C>T	ENST00000332707.5	+	9	1484	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	319	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TAAGAATGCTCAAGAGGCACT	0.343000													119	63					0	0	0.003610	0	0
AAAS	8086	broad.mit.edu	37	12	53702566	53702566	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702566G>A	ENST00000209873.4	-	11	1195	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	AAAS_ENST00000394384.3_Silent_p.L311L|AAAS_ENST00000550286.1_Silent_p.L220L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	344					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGTGAACAGCAGTCGGCTG	0.522000													33	146					0	0	0.003610	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	30					0	0	0.004672	0	0
CACNA1E	777	broad.mit.edu	37	1	181741229	181741229	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:181741229G>A	ENST00000526775.1	+	36	5109	c.4944G>A	c.(4942-4944)gaG>gaA	p.E1648E	CACNA1E_ENST00000367567.4_Silent_p.E1274E|CACNA1E_ENST00000367570.1_Silent_p.E1667E|CACNA1E_ENST00000357570.5_Silent_p.E1618E|CACNA1E_ENST00000360108.3_Silent_p.E1648E|CACNA1E_ENST00000358338.5_Silent_p.E1599E|CACNA1E_ENST00000367573.2_Silent_p.E1667E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1667					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGGCAGGAGATTATGCTGT	0.567000													20	72					0	0	0.010504	0	0
MYH15	22989	broad.mit.edu	37	3	108183645	108183645	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:108183645G>A	ENST00000273353.3	-	16	1687	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	544	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						TTCAAGGATGGAAAGGATGCC	0.428000													11	64					0	0	0.002450	0	0
STT3B	201595	broad.mit.edu	37	3	31661322	31661322	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:31661322G>A	ENST00000295770.2	+	9	1536	c.1327_splice	c.e9+1	p.V443_splice	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	443					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AAGAGTATTTGGTAAGAGAGG	0.299000													3	46					0	0	0.004672	0	0
XPOT	11260	broad.mit.edu	37	12	64815234	64815234	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64815234C>G	ENST00000332707.5	+	9	1592	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	355	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTACGATTATCTTCATATTTT	0.289000													75	43					0	0	0.003610	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													4	21					0	0	0.009096	0	0
VAT1	10493	broad.mit.edu	37	17	41168515	41168515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr17:41168515G>A	ENST00000355653.3	-	5	1002	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	VAT1_ENST00000587173.1_Missense_Mutation_p.R235W|VAT1_ENST00000420567.3_Missense_Mutation_p.R169W	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	303						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCATGTCCGGGCCAGGGCC	0.617000													8	19					0	0	0.003080	0	0
ANGPT1	284	broad.mit.edu	37	8	108264220	108264220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:108264220G>A	ENST00000520734.1	-	8	1045	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	ANGPT1_ENST00000520052.1_Missense_Mutation_p.P253S|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	454					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)			AGATTGGAGGGGCCACAAGCA	0.388000													18	85					0	0	0.012319	0	0
PROS1	5627	broad.mit.edu	37	3	93615438	93615438	+	Missense_Mutation	SNP	C	C	T	rs5003033		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:93615438C>T	ENST00000394236.3	-	9	1263	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PROS1_ENST00000407433.1_Missense_Mutation_p.R185H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCTGGCAAACGAAATTTTAA	0.403000													11	69					0	0	0.001368	0	0
PTH2R	5746	broad.mit.edu	37	2	209302496	209302496	+	Nonsense_Mutation	SNP	C	C	T	rs144936061		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:209302496C>T	ENST00000272847.2	+	4	514	c.301C>T	c.(301-303)Cga>Tga	p.R101*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	101						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTTGCTTTCCGACACTGTAA	0.383000													4	41					0	0	0.000602	0	0
TMEM108	66000	broad.mit.edu	37	3	133099274	133099274	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:133099274C>T	ENST00000515826.1	+	3	842	c.719C>T	c.(718-720)cCa>cTa	p.P240L	TMEM108_ENST00000393130.3_Missense_Mutation_p.P240L|TMEM108_ENST00000321871.6_Missense_Mutation_p.P240L|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	240						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCAGGACCCCACTCTGGGGC	0.627000													22	25					0	0	0.010504	0	0
PIGG	54872	broad.mit.edu	37	4	517460	517460	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:517460C>T	ENST00000453061.2	+	9	1933	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	PIGG_ENST00000383028.4_Silent_p.L476L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.L520L|PIGG_ENST00000310340.5_Silent_p.L601L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	609					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTGTGGCCTCTGTGTGGAAC	0.582000													20	81					0	0	0.007413	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968079	102968079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:102968079G>A	ENST00000233954.1	+	11	1640	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	457	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAATAAGGAGTTTGCCTA	0.498000													6	58					0	0	0.001168	0	0
NVL	4931	broad.mit.edu	37	1	224418997	224418997	+	Splice_Site	SNP	A	A	C	rs148643272		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:224418997A>C	ENST00000281701.6	-	22	2716	c.2455_splice	c.e22-1	p.G819_splice	NVL_ENST00000482491.1_Splice_Site_p.G543_splice|NVL_ENST00000391875.2_Splice_Site_p.G713_splice|NVL_ENST00000340871.4_Splice_Site_p.G630_splice|NVL_ENST00000469075.1_Splice_Site_p.G728_splice	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	819						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CCTTGAGTTCACCTATGGAGT	0.343000													8	39					0	0	0.004482	0	0
TBX18	9096	broad.mit.edu	37	6	85448233	85448233	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:85448233G>A	ENST00000369663.5	-	7	1418	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	TBX18_ENST00000606784.1_Missense_Mutation_p.P203S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	361					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAATTCCAGGGATATCTTCA	0.453000													24	91					0	0	0.003954	0	0
AAAS	8086	broad.mit.edu	37	12	53703003	53703003	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703003G>A	ENST00000209873.4	-	9	1038	c.873C>T	c.(871-873)acC>acT	p.T291T	AAAS_ENST00000394384.3_Silent_p.T258T|AAAS_ENST00000550286.1_Silent_p.T167T	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	291					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGCAGGTTGGTCACCCCAC	0.577000													147	83					0	0	0.003610	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778121	56778121	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:56778121C>T	ENST00000423391.1	-	1	515	c.414G>A	c.(412-414)caG>caA	p.Q138Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	138						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACAGCACAGCCTGGATGGCGA	0.552000													35	25					0	0	0.012213	0	0
KDR	3791	broad.mit.edu	37	4	55976877	55976877	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:55976877C>T	ENST00000263923.4	-	8	1330	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	345	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACACGCTCCCCCACCGTGG	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	82					0	0	0.002299	0	0
CFH	3075	broad.mit.edu	37	1	196716257	196716257	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:196716257C>T	ENST00000367429.4	+	22	3750	c.3510C>T	c.(3508-3510)tcC>tcT	p.S1170S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1170	Sushi 20.				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						GTGTAATATCCCGAGAAATTA	0.323000													7	53					0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196749359	196749359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:196749359C>T	ENST00000312428.6	-	35	5813	c.5713G>A	c.(5713-5715)Gtc>Atc	p.V1905I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1905					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						GGAAATGGGACAGTTAGTGCC	0.408000													6	56					0	0	0.001168	0	0
ZNF79	7633	broad.mit.edu	37	9	130187080	130187080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr9:130187080G>A	ENST00000342483.5	+	1	420	c.14G>A	c.(13-15)gGa>gAa	p.G5E	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGAGGAAGGAGGTGAGGAG	0.592000													18	12					0	0	0.004990	0	0
CD63	967	broad.mit.edu	37	12	56120979	56120979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120979C>T	ENST00000549117.1	-	3	647	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	CD63_ENST00000420846.3_Missense_Mutation_p.G71S|CD63_ENST00000552692.1_Missense_Mutation_p.G71S|CD63_ENST00000552754.1_Missense_Mutation_p.G48S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.G71S|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	71					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCGCAGCAGCCCACAAAAGCC	0.582000													93	84					0	0	0.003610	0	0
CR2	1380	broad.mit.edu	37	1	207647635	207647635	+	Nonsense_Mutation	SNP	G	G	T	rs149039701		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:207647635G>T	ENST00000367057.3	+	13	2479	c.2290G>T	c.(2290-2292)Gga>Tga	p.G764*	CR2_ENST00000367058.3_Nonsense_Mutation_p.G705*|CR2_ENST00000367059.3_Nonsense_Mutation_p.G705*|CR2_ENST00000458541.2_Nonsense_Mutation_p.G678*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	834	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G764R(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGCTGAAAATGGAATTTGGTT	0.378000													23	95					5.35356e-11	5.8041e-11	0.002780	1	0
TMEM55A	55529	broad.mit.edu	37	8	92052894	92052894	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:92052894G>A	ENST00000285419.3	-	1	398	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	28						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTTCTTGCAAGTACGGTGGGG	0.582000													13	61					0	0	0.003163	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68282659	68282659	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr14:68282659C>T	ENST00000347230.4	-	2	160	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E8K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	8					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGCTTCCTCTTTTCCAAAT	0.478000													5	22					0	0	0.000602	0	0
MFRP	83552	broad.mit.edu	37	11	119216587	119216587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:119216587C>T	ENST00000555262.1	-	4	482	c.323G>A	c.(322-324)gGa>gAa	p.G108E	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Missense_Mutation_p.G108E|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.G108E|MFRP_ENST00000449574.2_Missense_Mutation_p.G108E	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ggtAAGGCCTCCGGCAGGCAG	0.672000													36	62					0	0	0.005524	0	0
IFT122	55764	broad.mit.edu	37	3	129195589	129195589	+	Silent	SNP	C	C	T	rs71333615		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:129195589C>T	ENST00000296266.3	+	12	1437	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	IFT122_ENST00000507564.1_Silent_p.A356A|IFT122_ENST00000504021.1_Silent_p.A258A|IFT122_ENST00000440957.2_Silent_p.A155A|IFT122_ENST00000431818.2_Silent_p.A214A|IFT122_ENST00000349441.2_Silent_p.A253A|IFT122_ENST00000348417.2_Silent_p.A364A|IFT122_ENST00000347300.2_Silent_p.A305A	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	364					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCGCTATGCCTACAGGGATA	0.547000													37	54					0	0	0.004878	0	0
CD63	967	broad.mit.edu	37	12	56120975	56120975	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120975C>T	ENST00000549117.1	-	3	651	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	CD63_ENST00000420846.3_Missense_Mutation_p.C72Y|CD63_ENST00000552692.1_Missense_Mutation_p.C72Y|CD63_ENST00000552754.1_Missense_Mutation_p.C49Y|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Missense_Mutation_p.C72Y|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	72					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGCCCCGCAGCAGCCCACAAA	0.592000													95	84					0	0	0.003610	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37349786	37349786	+	Silent	SNP	T	T	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:37349786T>C	ENST00000233057.4	-	12	1252	c.930A>G	c.(928-930)aaA>aaG	p.K310K	EIF2AK2_ENST00000405334.1_Silent_p.K269K|EIF2AK2_ENST00000395127.2_Silent_p.K310K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	310	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTGCCAATGCTTTTACTTCAC	0.413000													3	60					0	0	0.004672	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114873	73114873	+	Nonstop_Mutation	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:73114873A>T	ENST00000356692.5	+	9	1507	c.1254A>T	c.(1252-1254)taA>taT	p.*418Y	PPP4R2_ENST00000394284.3_Nonstop_Mutation_p.*361Y|PPP4R2_ENST00000295862.9_Nonstop_Mutation_p.*362Y			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	0					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		AACAAGACTAACTATTTAGAA	0.338000													5	8					0	0	0.000602	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114872	73114872	+	Nonstop_Mutation	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:73114872A>T	ENST00000356692.5	+	9	1506	c.1253A>T	c.(1252-1254)tAa>tTa	p.*418L	PPP4R2_ENST00000394284.3_Nonstop_Mutation_p.*361L|PPP4R2_ENST00000295862.9_Nonstop_Mutation_p.*362L			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	0					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAACAAGACTAACTATTTAGA	0.338000													5	10					0	0	0.000602	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45258305	45258305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:45258305G>A	ENST00000517296.3	+	17	1762	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E500K|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E378K|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E588K|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E509K|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.E409K					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CGAGTACTATGAAAAGATCTT	0.602000													5	45					0	0	0.000602	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865783	140865783	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:140865783C>G	ENST00000306593.1	+	1	1043	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAATGCCCCTTACATCACA	0.542000													7	28					0	0	0.001984	0	0
AAAS	8086	broad.mit.edu	37	12	53702559	53702559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702559G>A	ENST00000209873.4	-	11	1202	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	AAAS_ENST00000394384.3_Missense_Mutation_p.T313I|AAAS_ENST00000550286.1_Missense_Mutation_p.T222I	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	346					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TCCCAATACAGTGAACAGCAG	0.527000													36	152					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9070546	9070546	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:9070546G>T	ENST00000397910.4	-	3	17103	c.16900C>A	c.(16900-16902)Ctg>Atg	p.L5634M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5636	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						GGTGACATCAGGGAAAACCCA	0.522000													6	34					3.59834e-05	3.80694e-05	0.001168	1	0
SNX9	51429	broad.mit.edu	37	6	158353276	158353276	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:158353276C>T	ENST00000392185.3	+	13	1509	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	446	BAR.				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)		AGAGTTTGGCCACAGTGTTCA	0.448000													8	24					0	0	0.006214	0	0
CNOT4	4850	broad.mit.edu	37	7	135080388	135080388	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:135080388G>A	ENST00000428680.2	-	9	1397	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	CNOT4_ENST00000541284.1_Missense_Mutation_p.S376L|CNOT4_ENST00000361528.4_Missense_Mutation_p.S373L|CNOT4_ENST00000414802.1_Missense_Mutation_p.S376L|CNOT4_ENST00000451834.1_Missense_Mutation_p.S373L|CNOT4_ENST00000315544.5_Missense_Mutation_p.S376L|CNOT4_ENST00000423368.2_Missense_Mutation_p.S376L|CNOT4_ENST00000356162.4_Missense_Mutation_p.S376L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	376					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTATATACCTGATGTGAAGAG	0.428000													23	133					0	0	0.004656	0	0
PCDH15	65217	broad.mit.edu	37	10	55568842	55568842	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:55568842C>T	ENST00000395445.1	-	36	5362	c.4968G>A	c.(4966-4968)agG>agA	p.R1656R	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.R590R|PCDH15_ENST00000395446.1_Silent_p.R852R|PCDH15_ENST00000395442.1_Silent_p.R521R|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				CAATGTTTTTCCTTGCTTTTT	0.468000										HNSCC(58;0.16)			6	21					0	0	0.001168	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159913	72159913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:72159913C>T	ENST00000537465.1	-	15	2380	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R736Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R591Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	741										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGCTGACTTCCGGGATAATGC	0.542000													41	161					0	0	0.010771	0	0
FLG	2312	broad.mit.edu	37	1	152280838	152280838	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152280838C>T	ENST00000368799.1	-	3	6559	c.6524G>A	c.(6523-6525)gGa>gAa	p.G2175E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2175	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.562000									Ichthyosis				147	231					0	0	0.003610	0	0
GNB1L	54584	broad.mit.edu	37	22	19808195	19808195	+	Silent	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:19808195A>T	ENST00000329517.6	-	4	416	c.180T>A	c.(178-180)gtT>gtA	p.V60V	GNB1L_ENST00000403325.1_Silent_p.V60V|GNB1L_ENST00000405009.1_Silent_p.V60V|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	60					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CCAGGGTGGTAACCGCTCTCC	0.657000													11	45					0	0	0.001368	0	0
CBX7	23492	broad.mit.edu	37	22	39530023	39530023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:39530023G>A	ENST00000216133.5	-	6	834	c.629C>T	c.(628-630)cCc>cTc	p.P210L	CBX7_ENST00000401405.3_Missense_Mutation_p.P117L|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	210					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					AGGTGTCCAGGGAGGGGGCCC	0.657000													22	104					0	0	0.002780	0	0
LIFR	3977	broad.mit.edu	37	5	38506127	38506127	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:38506127C>T	ENST00000263409.4	-	9	1333	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	LIFR_ENST00000453190.2_Missense_Mutation_p.E391K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	391	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.E391K(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGATAGCTTTCGTTTGTAGGT	0.289000			T	PLAG1	salivary adenoma								14	52					0	0	0.002450	0	0
CRYAA	1409	broad.mit.edu	37	21	44592347	44592347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:44592347C>T	ENST00000291554.2	+	3	571	c.479C>T	c.(478-480)cCc>cTc	p.P160L	CRYAA_ENST00000398133.1_Missense_Mutation_p.P140L|CRYAA_ENST00000398132.1_Missense_Mutation_p.P123L|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	160					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CGAGCCATCCCCGTGTCGCGG	0.677000													19	27					0	0	0.007413	0	0
SCN11A	11280	broad.mit.edu	37	3	38927621	38927621	+	Nonsense_Mutation	SNP	G	G	A	rs145290679		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:38927621G>A	ENST00000450244.1	-	16	3142	c.2944C>T	c.(2944-2946)Cga>Tga	p.R982*	SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.R982*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.R982*			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	982					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATTACCTTTCGGGGATCCTGT	0.448000													19	41					0	0	0.007413	0	0
HSPG2	3339	broad.mit.edu	37	1	22211071	22211071	+	Missense_Mutation	SNP	C	C	T	rs142248704		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:22211071C>T	ENST00000374695.3	-	13	1683	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	535					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCCCGGAAGCGGCGGGTGCT	0.677000													31	75					0	0	0.010818	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643999	20643999	+	RNA	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:20643999C>T	ENST00000428453.1	-	0	3460																				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						ATCGATGCCTCCAACCACAGC	0.582000													8	54					0	0	0.004482	0	0
TLL1	7092	broad.mit.edu	37	4	166978335	166978335	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:166978335G>A	ENST00000061240.2	+	14	2367		c.e14-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						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)		CATTTTCATAGAGGAAGATGA	0.458000													14	62					0	0	0.002450	0	0
DAGLA	747	broad.mit.edu	37	11	61495718	61495718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:61495718C>T	ENST00000257215.5	+	7	846	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	244					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGCTGCTCCGGCAGCGGCA	0.617000													33	68					0	0	0.010818	0	0
AIRE	326	broad.mit.edu	37	21	45709622	45709622	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:45709622G>A	ENST00000291582.5	+	6	862	c.735G>A	c.(733-735)aaG>aaA	p.K245K		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	245	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGAAGAACAAGGCCCGCAGCA	0.652000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				15	71					0	0	0.003163	0	0
COBLL1	22837	broad.mit.edu	37	2	165578763	165578763	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:165578763G>A	ENST00000375458.2	-	6	1039	c.818C>T	c.(817-819)tCc>tTc	p.S273F	COBLL1_ENST00000194871.6_Missense_Mutation_p.S339F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.S311F|COBLL1_ENST00000392717.2_Missense_Mutation_p.S311F|COBLL1_ENST00000342193.4_Missense_Mutation_p.S273F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	311										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AATGGTATTGGACCTTGTAAA	0.478000													11	49					0	0	0.001855	0	0
LILRB2	10288	broad.mit.edu	37	19	54783715	54783715	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:54783715A>G	ENST00000391748.1	-	4	413	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	LILRB2_ENST00000391746.1_Missense_Mutation_p.Y96H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Y96H|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y96H|LILRB2_ENST00000471216.1_5'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	96	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGACAGCCATATCGCCCTGTG	0.557000													26	111					0	0	0.003954	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A8_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000305208.5_Missense_Mutation_p.D480N	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CGCAGCCCACGACCTCACCTG	0.597000													18	104					0	0	0.008871	0	0
UCKL1	54963	broad.mit.edu	37	20	62577061	62577061	+	Silent	SNP	A	A	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:62577061A>C	ENST00000369908.5	-	5	851	c.552T>G	c.(550-552)ggT>ggG	p.G184G	UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Silent_p.G199G|UCKL1_ENST00000369892.3_Silent_p.G199G|UCKL1_ENST00000354216.6_Silent_p.G199G	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	199					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGACGTTTGCACCATACAGTG	0.597000													27	116					0	0	0.007291	0	0
PODXL2	50512	broad.mit.edu	37	3	127379473	127379473	+	Missense_Mutation	SNP	C	C	T	rs114228905	byFrequency	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:127379473C>T	ENST00000342480.6	+	3	641	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	201					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGCCAAGCCTCAGGTCCGT	0.577000													25	74					0	0	0.005443	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120343836	120343836	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:120343836G>A	ENST00000397843.2	+	31	3199	c.3033_splice	c.e31+1	p.R1011_splice	ARHGEF12_ENST00000532993.1_Splice_Site_p.R908_splice|ARHGEF12_ENST00000356641.3_Splice_Site_p.R992_splice	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1011					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGAGCTCAGGGTGAGAGATG	0.413000			T	MLL	AML								22	101					0	0	0.012319	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310275	178310275	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:178310275A>T	ENST00000322434.3	+	5	1048	c.822A>T	c.(820-822)gaA>gaT	p.E274D		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTAAAGAATGTGGGAAAG	0.353000													20	53					0	0	0.008871	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143790	55143790	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:55143790C>T	ENST00000491143.2	+	2	1382	c.1350C>T	c.(1348-1350)cgC>cgT	p.R450R		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	450					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGAACAAACGCCCGTCAAAGG	0.552000													11	57					0	0	0.001368	0	0
LILRA1	11024	broad.mit.edu	37	19	55107662	55107662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:55107662C>T	ENST00000251372.3	+	7	1149	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	323					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGACAGTTCCGTGGCAGACC	0.602000													9	38					0	0	0.006214	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:234237135G>A	ENST00000409110.1	+	8	754	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_ENST00000449594.2_Missense_Mutation_p.R41Q	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000													49	81					0	0	0.003610	0	0
ATP8A1	10396	broad.mit.edu	37	4	42505494	42505494	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:42505494C>T	ENST00000381668.5	-	24	2355	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.M693I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	708					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma 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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTATAACAATCATTCCCATGT	0.274000													8	24					0	0	0.003080	0	0
DOCK2	1794	broad.mit.edu	37	5	169484667	169484667	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:169484667G>A	ENST00000256935.8	+	44	4544	c.4464G>A	c.(4462-4464)tcG>tcA	p.S1488S	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.S980S|DOCK2_ENST00000540750.1_Silent_p.S549S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1488	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCACATGTCGCAGGTGAGTC	0.577000													45	42					0	0	0.003610	0	0
AAAS	8086	broad.mit.edu	37	12	53703020	53703020	+	Nonsense_Mutation	SNP	G	G	A	rs145446970		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703020G>A	ENST00000209873.4	-	9	1021	c.856C>T	c.(856-858)Cga>Tga	p.R286*	AAAS_ENST00000394384.3_Nonsense_Mutation_p.R253*|AAAS_ENST00000550286.1_Nonsense_Mutation_p.R162*	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	286					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCACCTCCTCGGAACCAGGGA	0.567000													108	63					0	0	0.003610	0	0
ANPEP	290	broad.mit.edu	37	15	90342541	90342541	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:90342541G>A	ENST00000300060.6	-	14	2272	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	653	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGATGACAGGGATGGCCTAGA	0.607000													7	41					0	0	0.001984	0	0
LAMA1	284217	broad.mit.edu	37	18	7013995	7013995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:7013995C>T	ENST00000389658.3	-	23	3275	c.3182G>A	c.(3181-3183)gGc>gAc	p.G1061D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1061	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCAATGGCCGGTGACCAC	0.522000													14	14					0	0	0.002450	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918965	144918965	+	Silent	SNP	T	T	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:144918965T>A	ENST00000529945.1	-	6	2149	c.1710A>T	c.(1708-1710)ctA>ctT	p.L570L	PDE4DIP_ENST00000369356.4_Silent_p.L407L|PDE4DIP_ENST00000369359.4_Silent_p.L544L|PDE4DIP_ENST00000479408.2_Silent_p.L194L|PDE4DIP_ENST00000313382.9_Silent_p.L473L|PDE4DIP_ENST00000313431.9_Silent_p.L570L|PDE4DIP_ENST00000530740.1_Silent_p.L544L|PDE4DIP_ENST00000369354.3_Silent_p.L407L|PDE4DIP_ENST00000369349.3_Silent_p.L407L|PDE4DIP_ENST00000369351.3_Silent_p.L407L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	407					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)		ATTCTTCTTGTAGCTGCTGCA	0.388000			T	PDGFRB	MPD								75	410					0	0	0.003610	0	0
CNNM1	26507	broad.mit.edu	37	10	101117306	101117306	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:101117306T>G	ENST00000356713.4	+	2	1900	c.1611T>G	c.(1609-1611)aaT>aaG	p.N537K	CNNM1_ENST00000446890.1_Missense_Mutation_p.N466K|CNNM1_ENST00000370534.4_Missense_Mutation_p.N172K|CNNM1_ENST00000370528.3_Missense_Mutation_p.N466K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	537	CBS 2.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGGTGAATAATGAGGGAGAAG	0.443000													4	25					0	0	0.009096	0	0
DNAJC12	56521	broad.mit.edu	37	10	69556939	69556939	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:69556939G>A	ENST00000225171.2	-	5	684	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	DNAJC12_ENST00000483798.2_Missense_Mutation_p.R208C	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	178					protein folding		heat shock protein binding|unfolded protein binding	p.R178C(1)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CAGCGGAAACGAAGGTGCCAA	0.373000													5	7					0	0	0.001168	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18131467	18131467	+	Silent	SNP	C	C	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:18131467C>A	ENST00000278816.2	+	4	1031	c.381C>A	c.(379-381)gtC>gtA	p.V127V	CSRP2BP_ENST00000435364.2_Silent_p.V127V|CSRP2BP_ENST00000489634.2_5'UTR|CSRP2BP_ENST00000377681.2_Silent_p.V127V			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	127					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGTTTCAGGTCGTCATGTTGG	0.413000													49	134					1.67886e-27	1.85692e-27	0.003610	1	0
AAAS	8086	broad.mit.edu	37	12	53703480	53703480	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703480G>A	ENST00000209873.4	-	8	880	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Silent_p.L206L|AAAS_ENST00000550286.1_Silent_p.L115L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	239					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGGTGAGACAGCACTTGGGCA	0.582000													28	37					0	0	0.012213	0	0
SAFB	6294	broad.mit.edu	37	19	5651068	5651068	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:5651068C>T	ENST00000292123.5	+	9	1385	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SAFB_ENST00000592224.1_Silent_p.F426F|SAFB_ENST00000433404.1_Silent_p.F256F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Silent_p.F357F|SAFB_ENST00000538656.1_Silent_p.F269F|SAFB_ENST00000588852.1_Silent_p.F426F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	426	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAATCTTTTCAGCAAATATG	0.428000													8	44					0	0	0.003080	0	0
CFAP221	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:120383201C>T	ENST00000602047.1	+	16	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.R485C			Q4G0U5	PCDP1_HUMAN		485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000													5	13					0	0	0.003080	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279285	125279285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:125279285C>T	ENST00000296220.5	-	8	1382	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	365					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTACGTTGTTCTTCTACAGCT	0.413000													16	85					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215847712	215847712	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:215847712C>T	ENST00000366943.2	-	63	13927	c.13541G>A	c.(13540-13542)aGc>aAc	p.S4514N	USH2A_ENST00000307340.3_Missense_Mutation_p.S4514N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4514	Fibronectin type-III 30.				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)		ACCCCCTTGGCTGTTGCTGGC	0.512000										HNSCC(13;0.011)			25	101					0	0	0.003330	0	0
CD63	967	broad.mit.edu	37	12	56121119	56121119	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56121119C>T	ENST00000550776.1	-	0	208				CD63_ENST00000420846.3_Missense_Mutation_p.C24Y|CD63_ENST00000552692.1_Missense_Mutation_p.C24Y|CD63_ENST00000552754.1_Intron|CD63_ENST00000549117.1_Missense_Mutation_p.C24Y|CD63_ENST00000546939.1_De_novo_Start_OutOfFrame|CD63_ENST00000257857.4_Missense_Mutation_p.C24Y	NM_001257401.1	NP_001244330.1	P08962	CD63_HUMAN	CD63 molecule						platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TCCCACTGCACAGGCCTAAGA	0.577000													59	58					0	0	0.003610	0	0
OR14K1	343170	broad.mit.edu	37	1	247902398	247902398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:247902398C>T	ENST00000283225.2	+	1	482	c.482C>T	c.(481-483)aCa>aTa	p.T161I	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						ACAGCTGGAACATTCTCTCTG	0.488000													22	120					0	0	0.012319	0	0
DYSF	8291	broad.mit.edu	37	2	71766327	71766327	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:71766327C>T	ENST00000258104.3	+	16	1715	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	DYSF_ENST00000410020.3_Silent_p.L512L|DYSF_ENST00000409582.3_Silent_p.L511L|DYSF_ENST00000409366.1_Silent_p.L481L|DYSF_ENST00000394120.2_Silent_p.L481L|DYSF_ENST00000429174.2_Silent_p.L480L|DYSF_ENST00000409762.1_Silent_p.L511L|DYSF_ENST00000413539.2_Silent_p.L511L|DYSF_ENST00000409651.1_Silent_p.L512L|DYSF_ENST00000409744.1_Silent_p.L481L|DYSF_ENST00000410041.1_Silent_p.L512L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	480						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						TACCACCTACCTGAGTATGTC	0.567000													16	72					0	0	0.004990	0	0
DCDC1	341019	broad.mit.edu	37	11	30938509	30938509	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:30938509C>T	ENST00000597505.1	-	24	3359	c.3360G>A	c.(3358-3360)caG>caA	p.Q1120Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Silent_p.Q199Q			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)					GTGAAGTTTCCTGCCAGGCAT	0.418000													19	105					0	0	0.008871	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562427	140562427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:140562427C>T	ENST00000361016.2	+	1	1448	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		98	Cadherin 1.				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)			CTATGCGGTCCCACTGAGCCT	0.438000													25	12					0	0	0.002780	0	0
CSMD3	114788	broad.mit.edu	37	8	113933877	113933877	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:113933877C>T	ENST00000297405.5	-	10	1856	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D434N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D498N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D538N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	538	Sushi 2.					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						GGCCTGTGATCACTCCAAGCA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	40					0	0	0.010504	0	0
PICK1	9463	broad.mit.edu	37	22	38461089	38461089	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:38461089C>T	ENST00000404072.3	+	4	581	c.234C>T	c.(232-234)atC>atT	p.I78I	PICK1_ENST00000356976.3_Silent_p.I78I|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	78	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGGTCAATCAAAGGGAAAA	0.542000													13	42					0	0	0.001368	0	0
MAST3	23031	broad.mit.edu	37	19	18245446	18245446	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:18245446C>T	ENST00000262811.5	+	15	1542	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	514	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGTCCAAGATCGGCCTCATGA	0.627000													3	14					0	0	0.004672	0	0
AMDHD1	144193	broad.mit.edu	37	12	96360259	96360259	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:96360259G>A	ENST00000266736.2	+	8	1272	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	389					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGCAAACAGGGAGATCTCATT	0.473000													136	101					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984830	62984830	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:62984830C>G	ENST00000403374.2	-	5	591	c.288G>C	c.(286-288)caG>caC	p.Q96H	SLC22A25_ENST00000306494.6_Missense_Mutation_p.Q262H|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	262					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACATCACCAACTGGAGGATGC	0.443000													10	38					0	0	0.008291	0	0
MBD5	55777	broad.mit.edu	37	2	149227601	149227601	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:149227601C>T	ENST00000407073.1	+	9	3086	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	MBD5_ENST00000404807.1_Missense_Mutation_p.P697S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	697						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)		GGGTTCATTTCCCATCAGTTC	0.458000													27	39					0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	3611459	3611459	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:3611459C>T	ENST00000602557.1	-	6	1479	c.924G>A	c.(922-924)caG>caA	p.Q308Q	CSMD1_ENST00000542608.1_Silent_p.Q308Q|CSMD1_ENST00000400186.3_Silent_p.Q308Q|CSMD1_ENST00000539096.1_Silent_p.Q308Q|CSMD1_ENST00000602723.1_Silent_p.Q308Q|CSMD1_ENST00000537824.1_Silent_p.Q308Q|CSMD1_ENST00000520002.1_Silent_p.Q308Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	308	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTTGGAACTGAGCGTTAA	0.403000													6	44					0	0	0.003080	0	0
KCNIP1	30820	broad.mit.edu	37	5	170139862	170139862	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:170139862C>T	ENST00000411494.1	+	2	66	c.66C>T	c.(64-66)atC>atT	p.I22I	KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000434108.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	22					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.I22I(1)		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)			TCCTAGACATCGCCTGGTGGT	0.413000													18	113					0	0	0.007413	0	0
GRIK5	2901	broad.mit.edu	37	19	42507520	42507520	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:42507520G>A	ENST00000262895.3	-	18	2477	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F	GRIK5_ENST00000593562.1_Silent_p.F826F|GRIK5_ENST00000301218.4_Silent_p.F826F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	826						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGGACCATATGAATTCCATGA	0.592000													10	60					0	0	0.006214	0	0
CD63	967	broad.mit.edu	37	12	56120713	56120713	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120713C>T	ENST00000549117.1	-	4	727	c.291G>A	c.(289-291)gaG>gaA	p.E97E	CD63_ENST00000548898.1_Silent_p.E4E|CD63_ENST00000420846.3_Silent_p.E97E|CD63_ENST00000548160.1_Silent_p.E4E|CD63_ENST00000552692.1_Silent_p.E97E|CD63_ENST00000552754.1_Silent_p.E74E|CD63_ENST00000546939.1_Silent_p.E15E|CD63_ENST00000257857.4_Silent_p.E97E|CD63_ENST00000550776.1_Silent_p.E15E|CD63_ENST00000552067.1_Silent_p.E4E	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	97					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CTGCGGCCACCTCCACCAACA	0.517000													160	103					0	0	0.003610	0	0
HOXB3	3213	broad.mit.edu	37	17	46629400	46629400	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr17:46629400G>A	ENST00000470495.1	-	1	1884	c.437C>T	c.(436-438)tCc>tTc	p.S146F	HOXB3_ENST00000472863.1_Missense_Mutation_p.S73F|HOXB3_ENST00000498678.1_Missense_Mutation_p.S146F|HOXB3_ENST00000460160.1_Missense_Mutation_p.S14F|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.S146F|HOXB3_ENST00000311626.4_Missense_Mutation_p.S146F|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.S73F|HOXB3_ENST00000485909.2_Missense_Mutation_p.S14F			P14651	HXB3_HUMAN	homeobox B3	146					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGTGCCGGGGGAGTTGTTTTT	0.572000													70	225					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65423391	65423391	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:65423391G>A	ENST00000519389.1	+	13	2604	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	HEPH_ENST00000374727.3_Missense_Mutation_p.E758K|HEPH_ENST00000441993.2_Missense_Mutation_p.E758K|HEPH_ENST00000343002.2_Missense_Mutation_p.E755K|HEPH_ENST00000419594.1_Missense_Mutation_p.E566K|HEPH_ENST00000336279.5_Missense_Mutation_p.E488K			Q9BQS7	HEPH_HUMAN	hephaestin	755	Plastocyanin-like 5.				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						CTGGGAACGGGAATGGCACAA	0.458000													15	7					0	0	0.004007	0	0
DSCAM	1826	broad.mit.edu	37	21	41711284	41711284	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:41711284C>T	ENST00000400454.1	-	7	1746	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	423	Ig-like C2-type 5.				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)				TAAGGGAAACCGGCTCTGCTG	0.493000													14	27					0	0	0.001855	0	0
TEK	7010	broad.mit.edu	37	9	27206637	27206637	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr9:27206637A>G	ENST00000380036.4	+	15	2864	c.2422A>G	c.(2422-2424)Aaa>Gaa	p.K808E	TEK_ENST00000406359.4_Missense_Mutation_p.K765E|TEK_ENST00000519097.1_Missense_Mutation_p.K660E	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	808					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGGAAGGTCAAAAACAACCC	0.413000													7	20					0	0	0.001984	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533394	85533394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:85533394C>T	ENST00000282111.3	+	9	1330	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	352					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCTCTGAATGCCTTCATGTTG	0.498000													12	50					0	0	0.010729	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109106	101109106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:101109106G>A	ENST00000273990.2	-	3	524	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	104					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		ACACAACCTCGCAAGCCGCAG	0.458000													12	41					0	0	0.010729	0	0
CTNND2	1501	broad.mit.edu	37	5	11098696	11098696	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:11098696C>T	ENST00000304623.8	-	15	2817	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	CTNND2_ENST00000503622.1_Silent_p.G539G|CTNND2_ENST00000511377.1_Silent_p.G785G|CTNND2_ENST00000458100.2_Silent_p.G443G|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	876					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						CCTTCCAGCTCCCTGCAGCCA	0.478000													13	58					0	0	0.002450	0	0
FN1	2335	broad.mit.edu	37	2	216239985	216239985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:216239985C>T	ENST00000354785.4	-	38	6478	c.6109G>A	c.(6109-6111)Gaa>Aaa	p.E2037K	FN1_ENST00000345488.5_Missense_Mutation_p.E1946K|FN1_ENST00000336916.4_Missense_Mutation_p.E1946K|FN1_ENST00000323926.6_Missense_Mutation_p.E2037K|FN1_ENST00000357009.2_Missense_Mutation_p.E1946K|FN1_ENST00000446046.1_Missense_Mutation_p.E1946K|FN1_ENST00000443816.1_Missense_Mutation_p.E1856K|FN1_ENST00000356005.4_Missense_Mutation_p.E1856K|FN1_ENST00000432072.2_Missense_Mutation_p.E1947K|FN1_ENST00000421182.1_Missense_Mutation_p.E1856K|FN1_ENST00000359671.1_Missense_Mutation_p.E1946K|FN1_ENST00000357867.4_Missense_Mutation_p.E1856K|FN1_ENST00000346544.3_Missense_Mutation_p.E1946K			P02751	FINC_HUMAN	fibronectin 1	1946	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACCACTTCTCTGGGAGGA	0.542000													18	111					0	0	0.010504	0	0
TRANK1	9881	broad.mit.edu	37	3	36893670	36893670	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:36893670C>T	ENST00000301807.6	-	13	4831	c.2934G>A	c.(2932-2934)agG>agA	p.R978R	TRANK1_ENST00000428977.2_Silent_p.R978R|TRANK1_ENST00000429976.2_Silent_p.R1528R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1528					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGAGTTTTCCTTTTATTCC	0.428000													9	29					0	0	0.006214	0	0
XPOT	11260	broad.mit.edu	37	12	64814263	64814263	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64814263C>A	ENST00000332707.5	+	8	1334	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	269	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATCTTTGTGTCAAGTATTACA	0.338000													51	51					1.17673e-23	1.29499e-23	0.003610	1	0
DNAJC21	134218	broad.mit.edu	37	5	34937654	34937654	+	Missense_Mutation	SNP	G	G	A	rs140595082		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:34937654G>A	ENST00000382021.2	+	5	889	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	DNAJC21_ENST00000303525.7_Missense_Mutation_p.R221Q|DNAJC21_ENST00000342382.4_Missense_Mutation_p.R221Q	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	221					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGGCGCATCGAAAACTTGTG	0.493000													21	75					0	0	0.010504	0	0
OR13G1	441933	broad.mit.edu	37	1	247836239	247836239	+	Silent	SNP	A	A	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:247836239A>G	ENST00000359688.2	-	1	126	c.105T>C	c.(103-105)gcT>gcC	p.A35A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCCGAGAAAAGCCACAAGAT	0.423000													3	41					0	0	0.004672	0	0
XPOT	11260	broad.mit.edu	37	12	64814155	64814155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64814155C>T	ENST00000332707.5	+	8	1226	c.697C>T	c.(697-699)Cat>Tat	p.H233Y		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	233	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTGCTAGGTCATATGTCAAT	0.308000													59	45					0	0	0.003610	0	0
ABCA17P	650655	broad.mit.edu	37	16	2474682	2474682	+	RNA	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:2474682G>A	ENST00000469908.1	+	0	2851					NR_003574.1																						TTCAGCAGTGGCTACTCCCTG	0.647000													5	18					0	0	0.000602	0	0
ZNF440	126070	broad.mit.edu	37	19	11943616	11943616	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:11943616C>T	ENST00000304060.5	+	4	1789	c.1625C>T	c.(1624-1626)cCt>cTt	p.P542L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGAGAAACCCTATGAGTGTG	0.478000													10	44					0	0	0.001368	0	0
CTNND2	1501	broad.mit.edu	37	5	10973741	10973741	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:10973741C>T	ENST00000304623.8	-	22	3691	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	CTNND2_ENST00000503622.1_Missense_Mutation_p.D831N|CTNND2_ENST00000511377.1_Missense_Mutation_p.D1077N|CTNND2_ENST00000458100.2_Missense_Mutation_p.D735N|CTNND2_ENST00000359640.2_Missense_Mutation_p.D1110N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1168					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						AAGGACTCATCGTAATTTCTT	0.527000													15	60					0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82580214	82580214	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:82580214G>A	ENST00000423517.2	-	6	10027	c.9690C>T	c.(9688-9690)cgC>cgT	p.R3230R	PCLO_ENST00000333891.8_Silent_p.R3230R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3161	Gln-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						CCTCAGCAAAGCGCTGTTGCT	0.438000													14	165					0	0	0.002450	0	0
TRMT44	152992	broad.mit.edu	37	4	8469883	8469883	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:8469883C>T	ENST00000389737.4	+	9	1737	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P	TRMT44_ENST00000513449.2_Silent_p.P338P	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GAGCAGGGCCCCAGGCTGAAG	0.607000													10	32					0	0	0.006214	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065863	247065863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:247065863G>A	ENST00000366508.1	-	8	1322	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R370*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R361*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	361	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCATGAGATCGAAATTTCTCT	0.418000													25	97					0	0	0.003330	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900390	75900390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:75900390C>T	ENST00000377636.3	-	10	2322	c.1976G>A	c.(1975-1977)gGg>gAg	p.G659E	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G659E|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G659E	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	659						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGAGCCCTCCCATCCTGCAA	0.557000													8	45					0	0	0.004482	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554899	40554899	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:40554899C>T	ENST00000297737.6	-	4	360	c.214G>A	c.(214-216)Gat>Aat	p.D72N	ZMAT4_ENST00000315769.7_Missense_Mutation_p.D72N	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	72						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGTTCTTATCCACCATGTCG	0.478000													4	35					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152281092	152281092	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152281092G>A	ENST00000368799.1	-	3	6305	c.6270C>T	c.(6268-6270)ttC>ttT	p.F2090F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2090	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGTAGAGGAAAGACCCTG	0.562000									Ichthyosis				37	148					0	0	0.004878	0	0
SLIT2	9353	broad.mit.edu	37	4	20599919	20599919	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:20599919T>G	ENST00000504154.1	+	33	3845	c.3593T>G	c.(3592-3594)cTg>cGg	p.L1198R	SLIT2_ENST00000503823.1_Missense_Mutation_p.L1190R|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1211R|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1194R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1198	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGAATCCTCCTGTATAAGGGT	0.483000													22	107					0	0	0.003330	0	0
HUNK	30811	broad.mit.edu	37	21	33331183	33331183	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:33331183G>A	ENST00000270112.2	+	5	1135	c.775G>A	c.(775-777)Ggg>Agg	p.G259R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	259	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGTTGACCGGGACGCTGCC	0.552000													20	131					0	0	0.002299	0	0
TTC17	55761	broad.mit.edu	37	11	43469611	43469611	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:43469611C>T	ENST00000039989.4	+	19	2739	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	909							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCTCAAACTCCGCTGGGTAGA	0.483000													14	57					0	0	0.002450	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													3	64					0	0	0.004672	0	0
AAAS	8086	broad.mit.edu	37	12	53702561	53702561	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702561G>A	ENST00000209873.4	-	11	1200	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	AAAS_ENST00000394384.3_Silent_p.F312F|AAAS_ENST00000550286.1_Silent_p.F221F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	345					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCAATACAGTGAACAGCAGTC	0.527000													32	152					0	0	0.003610	0	0
TMEM130	222865	broad.mit.edu	37	7	98453758	98453758	+	Silent	SNP	G	G	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:98453758G>T	ENST00000450876.1	-	4	1663	c.348C>A	c.(346-348)atC>atA	p.I116I	TMEM130_ENST00000339375.4_Silent_p.I200I|TMEM130_ENST00000345589.4_Silent_p.I98I|TMEM130_ENST00000416379.2_Silent_p.I200I|TMEM130_ENST00000546258.1_Silent_p.I181I			Q8N3G9	TM130_HUMAN	transmembrane protein 130	200						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTCCCGATGATGGAATAGT	0.567000													16	622					4.7546e-09	5.12935e-09	0.004007	1	0
OR2L13	284521	broad.mit.edu	37	1	248263456	248263456	+	Missense_Mutation	SNP	G	G	C	rs141876053	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:248263456G>C	ENST00000366478.2	+	3	1116	c.779G>C	c.(778-780)cGg>cCg	p.R260P	OR2L13_ENST00000358120.2_Missense_Mutation_p.R260P	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTATCTTCGGCCCAGGAAT	0.463000													11	70					0	0	0.010729	0	0
C2orf71	388939	broad.mit.edu	37	2	29296513	29296513	+	Silent	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:29296513G>A	ENST00000331664.5	-	1	614	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	205					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGCCTGATGGATGATGCACA	0.562000													16	73					0	0	0.004007	0	0
CERKL	375298	broad.mit.edu	37	2	182423332	182423332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:182423332G>A	ENST00000410087.3	-	5	881	c.781C>T	c.(781-783)Cct>Tct	p.P261S	CERKL_ENST00000339098.5_Missense_Mutation_p.P287S|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.P243S|CERKL_ENST00000374969.2_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	287	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCTCTGACAGGAGTCAGGATT	0.488000													14	70					0	0	0.003163	0	0
OR8B4	283162	broad.mit.edu	37	11	124294669	124294669	+	Silent	SNP	C	C	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:124294669C>T	ENST00000356130.3	-	1	120	c.99G>A	c.(97-99)ggG>ggA	p.G33G		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		ACACATAGATCCCTAAGAATA	0.453000													19	33					0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				96	26					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90144467	90144467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:90144467G>A	ENST00000405460.2	+	79	17129	c.17033G>A	c.(17032-17034)gGa>gAa	p.G5678E	GPR98_ENST00000425867.2_Missense_Mutation_p.G1339E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5678					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTACTGAAGGAAAAATTCAA	0.318000													3	2					0	0	0.004672	0	0
CLCN3	1182	broad.mit.edu	37	4	170610305	170610305	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:170610305A>T	ENST00000513761.1	+	5	1089	c.530A>T	c.(529-531)aAt>aTt	p.N177I	CLCN3_ENST00000360642.3_Missense_Mutation_p.N177I|CLCN3_ENST00000504131.2_Missense_Mutation_p.N160I|CLCN3_ENST00000347613.4_Missense_Mutation_p.N177I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	177					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGGGGATCTAATGAAACAACA	0.433000													25	45					0	0	0.003954	0	0
NMI	9111	broad.mit.edu	37	2	152127301	152127301	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:152127301delT	ENST00000243346.5	-	8	1300	c.830delA	c.(829-831)acfs	p.N277fs		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	277					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AAAGTGAATGTTAATTAAATC	0.383													27	52	---	---	---	---					
RNF148	378925	broad.mit.edu	37	7	122342533	122342542	+	Frame_Shift_Del	DEL	TTGGTCAAAG	TTGGTCAAAG	-			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:122342533_122342542delTTGGTCAAAG	ENST00000434824.1	-	1	479_488	c.263_272delCTTTGACCAA	c.(262-273)ctfs	p.PLTN88fs	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	88	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CCTGCTGAAATTGGTCAAAGGATGACAGGC	0.505													14	75	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274142	119274143	+	RNA	DEL	TT	TT	-	rs66493459		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:119274142_119274143delTT	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NR_034160.1																						AGTGTTTAAGtttttttttttt	0.342													3	5	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													4	5	---	---	---	---					
RBM11	54033	broad.mit.edu	37	21	15599592	15599593	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:15599592_15599593insT	ENST00000400577.3	+	5	833_834	c.824_825insT	c.(823-825)taafs	p.*275fs	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	275							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTCCGAAAGTCTAAGAAGAAGA	0.327													15	79	---	---	---	---					
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Translation_Start_Site	INS	-	-	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:135961585_135961586insT	ENST00000570135.1	-	0	155_156				RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Start_Codon_Ins|RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000431446.3_Start_Codon_Ins			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		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)					TGCTTCAACCATGTTTTTTTTT	0.391													8	50	---	---	---	---					
