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
PSD2	84249	broad.mit.edu	37	5	139193816	139193816	+	Silent	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:139193816T>C	ENST00000274710.3	+	4	1088	c.883T>C	c.(883-885)Ttg>Ctg	p.L295L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	295	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGAGGGGTTGGAGCCTGG	0.627000													25	95					0	0	0.693898	0	0
NLRX1	79671	broad.mit.edu	37	11	119044377	119044377	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:119044377G>A	ENST00000409109.1	+	5	1006	c.419G>A	c.(418-420)gGg>gAg	p.G140E	NLRX1_ENST00000525863.1_Missense_Mutation_p.G140E|NLRX1_ENST00000409991.1_Missense_Mutation_p.G140E|NLRX1_ENST00000292199.2_Missense_Mutation_p.G140E|NLRX1_ENST00000409265.4_Missense_Mutation_p.G140E			Q86UT6	NLRX1_HUMAN	NLR family member X1	140	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCCAGGCCGGGCTCCCCCCA	0.657000													13	37					0	0	0.411799	0	0
TTN	7273	broad.mit.edu	37	2	179439831	179439831	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179439831C>T	ENST00000589042.1	-	326	71252	c.71028G>A	c.(71026-71028)caG>caA	p.Q23676Q	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14736Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.Q22035Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q21108Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14611Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14803Q|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22035	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCTGTGTCTGTTTAAGAA	0.418000													11	9					0	0	0.387290	0	0
SPATA21	374955	broad.mit.edu	37	1	16736383	16736383	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16736383C>T	ENST00000335496.1	-	6	782	c.300G>A	c.(298-300)cgG>cgA	p.R100R	SPATA21_ENST00000540400.1_Silent_p.R77R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	100							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCGAGGCTCTCCGATGGGAGG	0.662000													20	29					0	0	0.624587	0	0
C12orf56	115749	broad.mit.edu	37	12	64679829	64679829	+	Silent	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:64679829A>T	ENST00000543942.2	-	7	1751	c.1125T>A	c.(1123-1125)ctT>ctA	p.L375L	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.L215L	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	378										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGAAATAGAAAAGGTCACTGG	0.348000													9	17					0	0	0.361761	0	0
PFDN4	5203	broad.mit.edu	37	20	52835653	52835653	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:52835653C>T	ENST00000371419.2	+	4	623	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	123					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			ATGCAAAATTCGGGAGCAACA	0.294000													10	30					0	0	0.435327	0	0
MARCH11	441061	broad.mit.edu	37	5	16067799	16067799	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:16067799G>A	ENST00000332432.8	-	4	1189	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	330						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TGCTTTCTTCGATGTCTGTGG	0.473000													19	26					0	0	0.557998	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935623	94935623	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94935623C>T	ENST00000337425.5	-	2	683	c.609G>A	c.(607-609)ggG>ggA	p.G203G	SERPINA9_ENST00000380365.3_Silent_p.G185G|SERPINA9_ENST00000448305.2_Silent_p.G105G|SERPINA9_ENST00000298845.7_Silent_p.G103G|SERPINA9_ENST00000546329.1_Silent_p.G167G|SERPINA9_ENST00000424550.2_Silent_p.G54G	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	185					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTACAACCTTCCCTTGGGTCT	0.438000													53	142					0	0	0.870114	0	0
FAM120C	54954	broad.mit.edu	37	X	54159266	54159266	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:54159266C>T	ENST00000375180.2	-	9	1977	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N	FAM120C_ENST00000328235.4_Missense_Mutation_p.D641N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	641										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTACACTCATCCTCAATACAT	0.428000													6	26					0	0	0.361761	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944717	43944717	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:43944717C>T	ENST00000389420.3	-	2	447	c.448G>A	c.(448-450)Ggc>Agc	p.G150S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G150S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	150						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCACCAGGCCTCCGCATAAG	0.612000													5	6					0	0	0.248553	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:24488226C>T	ENST00000264463.4	-	12	2420	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(1)|p.R638Q(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)			16	32					0	0	0.539581	0	0
LAMC2	3918	broad.mit.edu	37	1	183190096	183190096	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:183190096G>A	ENST00000264144.4	+	5	705	c.640_splice	c.e5+1	p.D214_splice	LAMC2_ENST00000493293.1_Splice_Site_p.D214_splice	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	214	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTTCATCAAGGTAAAGCCTT	0.453000													11	38					0	0	0.457914	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	38					0	0	0.115264	0	0
OR51F1	256892	broad.mit.edu	37	11	4791061	4791061	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4791061G>A	ENST00000380383.1	-	1	107	c.108C>T	c.(106-108)atC>atT	p.I36I	OR51F1_ENST00000343430.3_Silent_p.I29I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	29						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAATGGAGATCCAGACAT	0.458000													8	26					0	0	0.278610	0	0
TMEM105	284186	broad.mit.edu	37	17	79287643	79287643	+	Silent	SNP	C	C	T	rs140676006	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:79287643C>T	ENST00000332900.1	-	3	747	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	66						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CAGCACAGTCCCCCCAAGGAG	0.647000													42	41					0	0	0.853193	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313390	99313390	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:99313390G>A	ENST00000336374.2	-	7	663	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	221					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTTATTGAGAGAACGAATGGA	0.358000													31	149					0	0	0.769981	0	0
GABRG2	2566	broad.mit.edu	37	5	161495078	161495078	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:161495078G>A	ENST00000356592.3	+	1	533	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.V25M|GABRG2_ENST00000361925.4_Missense_Mutation_p.V25M	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	25					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAAATGACGGTGTGGATTCT	0.493000													17	51					0	0	0.639603	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:121828152G>A	ENST00000330540.2	+	5	860	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_ENST00000393627.2_Nonsense_Mutation_p.W242*|CD86_ENST00000264468.5_Nonsense_Mutation_p.W35*|CD86_ENST00000469710.1_Nonsense_Mutation_p.W166*|CD86_ENST00000493101.1_Nonsense_Mutation_p.W136*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	248					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000													27	56					0	0	0.706142	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894137	10894137	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:10894137G>A	ENST00000283141.6	+	3	412	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CATGATAAAGGATTTCAGAAA	0.299000													8	28					0	0	0.278610	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	135					0	0	0.184627	0	0
OR6C4	341418	broad.mit.edu	37	12	55945604	55945604	+	Silent	SNP	C	C	T	rs149076957	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:55945604C>T	ENST00000394256.2	+	1	622	c.594C>T	c.(592-594)atC>atT	p.I198I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGATGGTCATCCTCTTGGCCG	0.468000													34	57					0	0	0.847076	0	0
TACC2	10579	broad.mit.edu	37	10	123843501	123843501	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:123843501G>A	ENST00000369005.1	+	4	1826	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	TACC2_ENST00000334433.3_Missense_Mutation_p.E496K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.E496K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E496K|TACC2_ENST00000515603.1_Missense_Mutation_p.E496K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	496	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATCACCCCAGGAGAGGGGAGA	0.597000													48	57					0	0	0.870114	0	0
DDX60	55601	broad.mit.edu	37	4	169145470	169145470	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:169145470C>T	ENST00000393743.3	-	35	5039	c.4748G>A	c.(4747-4749)aGa>aAa	p.R1583K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1583							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AATTGCTACTCTTCCTTCCTT	0.373000													22	43					0	0	0.639603	0	0
OLAH	55301	broad.mit.edu	37	10	15103833	15103833	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:15103833G>A	ENST00000378217.3	+	5	620	c.433G>A	c.(433-435)Gat>Aat	p.D145N	OLAH_ENST00000378228.3_Missense_Mutation_p.D92N	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	92					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGTCATCCAGGATAAACCATT	0.388000													53	91					0	0	0.870114	0	0
CNGA2	1260	broad.mit.edu	37	X	150912051	150912051	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:150912051T>A	ENST00000329903.4	+	6	1109	c.1076T>A	c.(1075-1077)aTt>aAt	p.I359N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	359					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGATTGGCGTCCTC	0.512000													35	60					0	0	0.812448	0	0
TTN	7273	broad.mit.edu	37	2	179452036	179452036	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179452036T>A	ENST00000589042.1	-	307	64126	c.63902A>T	c.(63901-63903)tAt>tTt	p.Y21301F	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12361F|TTN_ENST00000591111.1_Missense_Mutation_p.Y19660F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y18733F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12236F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12428F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19660							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACGATATAATGTGTCAC	0.473000													13	13					0	0	0.411799	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918683	21918683	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:21918683C>T	ENST00000240662.2	-	3	1594	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTTTGATTTCCTTCTGGAGTC	0.423000													65	94					0	0	0.870114	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914491	111914491	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:111914491G>A	ENST00000371968.3	-	2	367	c.128C>T	c.(127-129)tCa>tTa	p.S43L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.S43L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	43						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TGTGCTGAATGACACTGGCTT	0.542000													86	140					0	0	0.870114	0	0
PIWIL4	143689	broad.mit.edu	37	11	94334973	94334973	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:94334973T>A	ENST00000299001.6	+	12	1604	c.1393T>A	c.(1393-1395)Tct>Act	p.S465T	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	465					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAACCTGTGTCTGCTGCTGA	0.368000													32	144					0	0	0.827153	0	0
CASR	846	broad.mit.edu	37	3	121980746	121980746	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:121980746C>T	ENST00000498619.1	+	4	1302	c.864C>T	c.(862-864)atC>atT	p.I288I	CASR_ENST00000296154.5_Silent_p.I288I|CASR_ENST00000490131.1_Silent_p.I288I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	288					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCGCAATATCACGGGCAAGA	0.572000													21	59					0	0	0.654019	0	0
COL4A6	1288	broad.mit.edu	37	X	107418946	107418946	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:107418946C>T	ENST00000394872.2	-	29	3002	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G923E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G924E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G923E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G923E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	924	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGGAATTCCTTTTAATCC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				7	41					0	0	0.278610	0	0
DSP	1832	broad.mit.edu	37	6	7578094	7578094	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:7578094C>T	ENST00000379802.3	+	21	3301	c.2960C>T	c.(2959-2961)tCc>tTc	p.S987F	DSP_ENST00000418664.2_Missense_Mutation_p.S987F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	987	Globular 1.				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)		ATGATTCAGTCCCCTTCTGGG	0.473000													51	82					0	0	0.870114	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392057	117392057	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:117392057A>T	ENST00000321322.6	-	6	1182	c.1181T>A	c.(1180-1182)cTc>cAc	p.L394H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L124H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	334	Ig-like C2-type 4.				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)		GGCACAGGAGAGGATGACCGT	0.632000													6	30					0	0	0.217242	0	0
NAV3	89795	broad.mit.edu	37	12	78400717	78400717	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:78400717G>A	ENST00000397909.2	+	8	1572	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	NAV3_ENST00000266692.7_Missense_Mutation_p.E467K|NAV3_ENST00000228327.6_Missense_Mutation_p.E467K|NAV3_ENST00000536525.2_Missense_Mutation_p.E467K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	467						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGCCAAAGGAAAAAGAAGA	0.413000										HNSCC(70;0.22)			28	34					0	0	0.693898	0	0
CAPN11	11131	broad.mit.edu	37	6	44144323	44144323	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:44144323G>A	ENST00000542245.1	+	10	1045	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	CAPN11_ENST00000398776.1_Missense_Mutation_p.R336K			Q9UMQ6	CAN11_HUMAN	calpain 11	336	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGTGCCAGGGAGTGGGAA	0.617000													16	68					0	0	0.500413	0	0
TAF1L	138474	broad.mit.edu	37	9	32632446	32632446	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:32632446C>T	ENST00000242310.4	-	1	3221	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1044					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCACATCAATCACTTCCCAGC	0.483000													72	102					0	0	0.870114	0	0
C6	729	broad.mit.edu	37	5	41160461	41160461	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41160461G>A	ENST00000263413.3	-	11	1731	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.P489P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	489	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTCCACGATGGGGGCAAGCT	0.498000													28	49					0	0	0.750413	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995292	140995292	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140995292G>A	ENST00000285879.4	+	4	2388	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTGAGGGAGAGGACTCC	0.567000										HNSCC(15;0.026)			14	49					0	0	0.435327	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059401	152059401	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152059401C>T	ENST00000368806.1	-	3	821	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	253							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCTTCCTGTTCTCCAAACTGG	0.453000													46	114					0	0	0.870114	0	0
BHMT	635	broad.mit.edu	37	5	78422036	78422036	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:78422036C>T	ENST00000274353.5	+	6	900	c.793C>T	c.(793-795)Cca>Tca	p.P265S	BHMT_ENST00000524080.1_Missense_Mutation_p.P112S|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	265	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATCGATCTCCCAGAATTCCC	0.443000													10	41					0	0	0.411799	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996580	143996580	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:143996580C>T	ENST00000323110.2	-	3	479	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	159					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CATCCACCATCGGGAGGAACC	0.632000									Familial Hyperaldosteronism type I				4	24					0	0	0.248553	0	0
WLS	79971	broad.mit.edu	37	1	68615937	68615937	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:68615937G>A	ENST00000262348.4	-	6	1159	c.906C>T	c.(904-906)atC>atT	p.I302I	WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Silent_p.I300I|WLS_ENST00000540432.1_Silent_p.I302I|WLS_ENST00000370976.3_Silent_p.I211I|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	302					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGCCCTGTCGGATGTCACCAA	0.512000													69	134					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	114448956	114448956	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:114448956C>T	ENST00000297405.5	-	1	372	c.128G>A	c.(127-129)gGa>gAa	p.G43E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G43E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G43E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	43						integral to membrane|plasma membrane		p.G43V(1)		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						AAACGTAAATCCACTTTTAAT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			59	105					0	0	0.870114	0	0
INPP5D	3635	broad.mit.edu	37	2	234112893	234112893	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:234112893C>T	ENST00000359570.5	+	28	3061	c.3061C>T	c.(3061-3063)Ccc>Tcc	p.1021_1021insS	INPP5D_ENST00000450745.1_Missense_Mutation_p.785_785insS|INPP5D_ENST00000455936.2_Missense_Mutation_p.785_785insS			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TAAGCCTGCTCCCAGGAAGGA	0.637000													21	15					0	0	0.624587	0	0
OR7G1	125962	broad.mit.edu	37	19	9225634	9225634	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9225634C>T	ENST00000293614.1	-	1	805	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	OR7G1_ENST00000541538.1_Missense_Mutation_p.R269Q			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGCAGTAATTCGGGAAGACTC	0.458000													23	52					0	0	0.667858	0	0
KLK12	43849	broad.mit.edu	37	19	51535331	51535331	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51535331G>A	ENST00000525263.1	-	3	377	c.258C>T	c.(256-258)atC>atT	p.I86I	KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.I86I|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.I86I			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	86	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CGCTGTGCCGGATCTGCTCGG	0.711000													3	11					0	0	0.150653	0	0
OR51F1	256892	broad.mit.edu	37	11	4790656	4790656	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4790656G>A	ENST00000380383.1	-	1	512	c.513C>T	c.(511-513)ctC>ctT	p.L171L	OR51F1_ENST00000343430.3_Silent_p.L164L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	164						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGGCTTAAGGAGCAAAAGTA	0.388000													17	72					0	0	0.557998	0	0
PARP15	165631	broad.mit.edu	37	3	122345787	122345787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:122345787C>T	ENST00000464300.2	+	9	1411	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*	PARP15_ENST00000310366.4_Nonsense_Mutation_p.Q215*|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGTCATTTTTCAACCTGAGCT	0.368000													13	47					0	0	0.479597	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392058	117392058	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:117392058G>T	ENST00000321322.6	-	6	1181	c.1180C>A	c.(1180-1182)Ctc>Atc	p.L394I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L124I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	334	Ig-like C2-type 4.				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)		GCACAGGAGAGGATGACCGTG	0.632000													6	30					0.0215528	0.0216532	0.217242	1	0
VDAC3	7419	broad.mit.edu	37	8	42259390	42259390	+	Silent	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:42259390A>G	ENST00000392935.3	+	7	554	c.411A>G	c.(409-411)ccA>ccG	p.P137P	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.P137P|VDAC3_ENST00000022615.4_Silent_p.P136P	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	136					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TTTCTGGACCAACCATCTATG	0.423000													33	123					0	0	0.827153	0	0
FAM135B	51059	broad.mit.edu	37	8	139165019	139165019	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:139165019C>T	ENST00000395297.1	-	13	1869	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	567										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCAGGGGTTCAGCTCTGGAG	0.498000										HNSCC(54;0.14)			20	57					0	0	0.575678	0	0
FCER1A	2205	broad.mit.edu	37	1	159275833	159275833	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:159275833C>T	ENST00000368115.1	+	5	486	c.387C>T	c.(385-387)ttC>ttT	p.F129F	FCER1A_ENST00000368114.1_Silent_p.F96F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	129	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AGCCCCTCTTCCTCAGGTGCC	0.458000													27	58					0	0	0.729181	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502202	90502202	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:90502202C>T	ENST00000325643.5	+	4	2866	c.2800C>T	c.(2800-2802)Ccg>Tcg	p.P934S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCAGAGGCCCCCGAGAGGGTC	0.622000													19	66					0	0	0.575678	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19705809	19705809	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:19705809C>T	ENST00000379697.3	-	7	726	c.577_splice	c.e7-1	p.G193_splice	SH3KBP1_ENST00000379698.4_Intron|SH3KBP1_ENST00000397821.3_Intron			Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	173					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGTAGTCTTTCCTGACAGTGA	0.493000													27	127					0	0	0.760397	0	0
MROH2B	133558	broad.mit.edu	37	5	41005017	41005017	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41005017C>T	ENST00000399564.4	-	36	4320	c.3870G>A	c.(3868-3870)atG>atA	p.M1290I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M845I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGGTTCCTTCATGAGCTGAA	0.488000													11	18					0	0	0.435327	0	0
IL31RA	133396	broad.mit.edu	37	5	55202081	55202081	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:55202081C>T	ENST00000396834.1	+	11	1656	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	IL31RA_ENST00000359040.5_Missense_Mutation_p.S406F|IL31RA_ENST00000396836.2_Missense_Mutation_p.S406F|IL31RA_ENST00000297015.3_Missense_Mutation_p.S264F|IL31RA_ENST00000490985.1_Missense_Mutation_p.S264F|IL31RA_ENST00000447346.2_Missense_Mutation_p.S406F|IL31RA_ENST00000354961.4_Missense_Mutation_p.S387F	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	374	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCTGGGAATCTGTGTCTCAG	0.512000													19	42					0	0	0.575678	0	0
TEKT2	27285	broad.mit.edu	37	1	36550626	36550626	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:36550626C>T	ENST00000207457.3	+	2	231	c.104C>T	c.(103-105)tCc>tTc	p.S35F		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	35					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGAGATGCTTCCCATCAGATC	0.627000													23	45					0	0	0.639603	0	0
RPTN	126638	broad.mit.edu	37	1	152130351	152130351	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152130351C>T	ENST00000316073.3	-	2	79	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	5	S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTATGCTATTCAGGAGTTGAG	0.443000													38	65					0	0	0.870114	0	0
ALG12	79087	broad.mit.edu	37	22	50303663	50303663	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50303663G>A	ENST00000330817.5	-	5	816	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	181					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGAACACGATGATGGCGA	0.657000													9	17					0	0	0.361761	0	0
MRPL45	84311	broad.mit.edu	37	17	36478143	36478143	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:36478143C>T	ENST00000312513.5	+	7	956	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	265					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATACCAAGATCGTTCCCCCAT	0.502000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	27					0	0	0.859065	0	0
KLF1	10661	broad.mit.edu	37	19	12995729	12995729	+	Silent	SNP	G	G	A	rs144695155		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:12995729G>A	ENST00000264834.4	-	3	1099	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	353					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAGGTGGTCAGAGC	0.632000													22	57					0	0	0.667858	0	0
AK7	122481	broad.mit.edu	37	14	96944806	96944806	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:96944806C>T	ENST00000267584.4	+	15	1604	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	520					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCCCAGAATTCGTTTGTGCAC	0.552000													37	103					0	0	0.853193	0	0
MUC3A	4584	broad.mit.edu	37	7	100552576	100552576	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:100552576C>T	ENST00000319509.7	+	1	1327	c.1327C>T	c.(1327-1329)Ccg>Tcg	p.P443S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCTACCATCCCGCTCACCAT	0.552000													38	280					0	0	0.870114	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019833	129019833	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:129019833G>A	ENST00000274487.4	+	18	2812	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	889	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q889H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCAGGATCAGAATTATGGTC	0.408000													30	86					0	0	0.812448	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584882	72584882	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:72584882C>T	ENST00000375352.1	-	2	227	c.147G>A	c.(145-147)ttG>ttA	p.L49L	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	49	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ACCGCCACTTCAAGTAGGTCT	0.483000													76	61					0	0	0.870114	0	0
KCNA2	3737	broad.mit.edu	37	1	111146446	111146446	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:111146446G>A	ENST00000485317.1	-	3	1632	c.959C>T	c.(958-960)aCc>aTc	p.T320I	KCNA2_ENST00000316361.4_Missense_Mutation_p.T320I|KCNA2_ENST00000440270.1_Missense_Mutation_p.T320I|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	320						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGCTTTGAGGGTCTGACCTAG	0.483000													16	48					0	0	0.520397	0	0
PLCB1	23236	broad.mit.edu	37	20	8705358	8705358	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:8705358A>T	ENST00000378641.3	+	16	2112	c.1637A>T	c.(1636-1638)tAt>tTt	p.Y546F	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.Y546F|PLCB1_ENST00000338037.6_Missense_Mutation_p.Y546F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	546	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGTGAACTATATTCAGCCA	0.363000													34	65					0	0	0.864702	0	0
IGFN1	91156	broad.mit.edu	37	1	201186506	201186506	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:201186506C>T	ENST00000335211.4	+	17	9817	c.9687C>T	c.(9685-9687)agC>agT	p.S3229S	IGFN1_ENST00000295591.8_Silent_p.S389S	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCCGGCAGCGCCCACATCC	0.662000													35	56					0	0	0.853193	0	0
LIN9	286826	broad.mit.edu	37	1	226421194	226421194	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:226421194C>T	ENST00000328205.5	-	13	1869	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	LIN9_ENST00000481685.1_Missense_Mutation_p.D407N|LIN9_ENST00000366801.1_Missense_Mutation_p.D391N	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	426					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GTTGGCTGATCTGCAGGCTGG	0.473000													43	73					0	0	0.870114	0	0
IGHG1	3500	broad.mit.edu	37	14	106204074	106204074	+	RNA	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:106204074C>A	ENST00000390548.2	-	0	1224																											TCTGGGCGGCCCTGGACACCC	0.662000													15	34					6.31663e-08	6.39571e-08	0.479597	1	0
GRM3	2913	broad.mit.edu	37	7	86468162	86468162	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:86468162C>T	ENST00000361669.2	+	4	2431	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	GRM3_ENST00000546348.1_Silent_p.F36F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F316F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	444					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGCTCCATTCAACCCAAATA	0.358000													11	24					0	0	0.435327	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611327	17611327	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:17611327C>A	ENST00000252595.7	+	9	1454	c.1357C>A	c.(1357-1359)Cag>Aag	p.Q453K	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.Q453K|SLC27A1_ENST00000598424.1_Missense_Mutation_p.Q274K|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	453	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTTGTGGGTCAGATCAACCA	0.657000													5	12					0.014758	0.0148498	0.184627	1	0
ACAD10	80724	broad.mit.edu	37	12	112184963	112184963	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:112184963C>T	ENST00000455480.2	+	16	2637	c.2460C>T	c.(2458-2460)cgC>cgT	p.R820R	ACAD10_ENST00000392636.2_Silent_p.R391R|ACAD10_ENST00000313698.4_Silent_p.R789R|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	789							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGAAAGCCCGCTCCTGTTTTG	0.642000													23	22					0	0	0.639603	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958751	51958751	+	Silent	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51958751C>A	ENST00000321424.3	-	4	1038	c.972G>T	c.(970-972)ggG>ggT	p.G324G	SIGLEC8_ENST00000340550.5_Silent_p.G231G|SIGLEC8_ENST00000430817.1_Silent_p.G215G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	324	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGTGAATTCCCCTTCATCCC	0.647000													19	42					6.44725e-10	6.54846e-10	0.624587	1	0
DOPEY2	9980	broad.mit.edu	37	21	37620844	37620844	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:37620844C>T	ENST00000399151.3	+	21	5061	c.4976C>T	c.(4975-4977)tCc>tTc	p.S1659F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1659					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGATCCTCTTCCGTTTACTTT	0.433000													10	21					0	0	0.411799	0	0
MYH4	4622	broad.mit.edu	37	17	10357125	10357125	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:10357125G>A	ENST00000255381.2	-	23	2879	c.2769C>T	c.(2767-2769)atC>atT	p.I923I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	923					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTACCTCTTTGATTTTGGCCT	0.423000													134	126					0	0	0.870114	0	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:40114658G>A	ENST00000324616.5	+	13	1718	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000													16	76					0	0	0.592651	0	0
PDGFRA	5156	broad.mit.edu	37	4	55124954	55124954	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:55124954G>A	ENST00000257290.5	+	2	350	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	PDGFRA_ENST00000508170.1_Missense_Mutation_p.A7T|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	7					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCATCCGGCGTTCCTGGT	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			30	90					0	0	0.819951	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8662151	8662151	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8662151G>A	ENST00000270328.4	-	6	1127	c.861C>T	c.(859-861)ctC>ctT	p.L287L	ADAMTS10_ENST00000597188.1_Silent_p.L287L|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	287	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCGAGTTACGAGGATGTTAA	0.577000													16	28					0	0	0.557998	0	0
KDR	3791	broad.mit.edu	37	4	55948738	55948738	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:55948738G>A	ENST00000263923.4	-	28	4022	c.3727C>T	c.(3727-3729)Ccg>Tcg	p.P1243S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1243					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)	TCTTCTAACGGGATATCTTCA	0.338000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			26	102					0	0	0.750413	0	0
MROH7	374977	broad.mit.edu	37	1	55148437	55148437	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:55148437G>A	ENST00000414150.2	+	14	2768	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K	MROH7_ENST00000421030.2_Silent_p.K830K|MROH7_ENST00000395690.2_Silent_p.K830K|MROH7_ENST00000454855.2_Silent_p.K348K|MROH7_ENST00000409996.1_Silent_p.K398K|MROH7_ENST00000339553.5_Silent_p.K830K|MROH7_ENST00000545244.1_Silent_p.K398K					maestro heat-like repeat family member 7																		CCGTCACCAAGGAGGGCCGGG	0.627000													13	30					0	0	0.520397	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170071	118170071	+	Missense_Mutation	SNP	C	C	G	rs141202988		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:118170071C>G	ENST00000427715.2	+	7	847	c.413C>G	c.(412-414)gCg>gGg	p.A138G	SLC30A8_ENST00000456015.2_Missense_Mutation_p.A187G|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A138G|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A138G	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	187					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.A187V(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517000													20	46					0	0	0.624587	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618540	77618540	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:77618540T>A	ENST00000521891.2	+	2	2665	c.2217T>A	c.(2215-2217)ttT>ttA	p.F739L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.F739L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F739L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F739L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	739						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGGTGTTTGGCCACTCTG	0.532000										HNSCC(33;0.089)			6	26					0	0	0.217242	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519864	69519864	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:69519864C>T	ENST00000338206.5	-	5	1213	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	402					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCAATGTTATCATGTTGATCC	0.453000													55	179					0	0	0.870114	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953364	114953364	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:114953364G>A	ENST00000449327.1	-	1	305	c.186C>T	c.(184-186)ttC>ttT	p.F62F																								GTTGCCCGTCGAATCGGAATC	0.443000													56	64					0	0	0.870114	0	0
ATP7B	540	broad.mit.edu	37	13	52531705	52531705	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:52531705G>A	ENST00000242839.4	-	9	2550	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	ATP7B_ENST00000400366.3_Silent_p.L687L|ATP7B_ENST00000417240.2_Silent_p.L70L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Silent_p.L636L|ATP7B_ENST00000418097.2_Silent_p.L798L|ATP7B_ENST00000448424.2_Silent_p.L720L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	798					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGTGGCTTGGAGAGACATGA	0.443000									Wilson disease				25	66					0	0	0.729181	0	0
ZNF185	7739	broad.mit.edu	37	X	152106682	152106682	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:152106682G>A	ENST00000535861.1	+	16	1327	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	ZNF185_ENST00000370268.4_Missense_Mutation_p.E395K|ZNF185_ENST00000318504.7_Missense_Mutation_p.E336K|ZNF185_ENST00000370270.1_Missense_Mutation_p.E158K|ZNF185_ENST00000539731.1_Missense_Mutation_p.E398K|ZNF185_ENST00000324823.6_Missense_Mutation_p.E163K|ZNF185_ENST00000318529.8_Missense_Mutation_p.E174K|ZNF185_ENST00000449285.2_Missense_Mutation_p.E396K	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	395						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGCCCAGGAGGATGCAAA	0.562000													4	6					0	0	0.217242	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854997	79854997	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:79854997G>A	ENST00000338682.3	-	5	1514	c.842C>T	c.(841-843)aCc>aTc	p.T281I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	281						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGCCCATTGGTTTTATAGGA	0.463000													28	55					0	0	0.750413	0	0
EPHA6	285220	broad.mit.edu	37	3	96962934	96962934	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:96962934C>T	ENST00000389672.5	+	5	1447	c.1409C>T	c.(1408-1410)aCc>aTc	p.T470I	EPHA6_ENST00000470610.2_Missense_Mutation_p.T470I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	375	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCTTAGACACCAGCCAGTGT	0.468000													16	35					0	0	0.479597	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109105	101109105	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:101109105C>T	ENST00000273990.2	-	3	525	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	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)		AACACAACCTCGCAAGCCGCA	0.458000													32	66					0	0	0.769981	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952211	144952211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:144952211G>A	ENST00000369359.4	-	7	957	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q236*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369347.4_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q170*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	170					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)		TTGTCCCTCTGGGCCAGGGCC	0.522000			T	PDGFRB	MPD								12	147					0	0	0.539581	0	0
OR5J2	282775	broad.mit.edu	37	11	55944293	55944293	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55944293C>T	ENST00000312298.1	+	1	200	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGCTGTCTTTCATTTGTGGAT	0.438000													57	109					0	0	0.870114	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967575	142967575	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:142967575G>A	ENST00000370494.1	+	1	403	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	125							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATTAGCAAATGATGTAGTGGA	0.448000													59	122					0	0	0.870114	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377786	50377786	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:50377786C>T	ENST00000376020.2	-	4	1312	c.1287G>A	c.(1285-1287)agG>agA	p.R429R	SHROOM4_ENST00000289292.7_Silent_p.R429R|SHROOM4_ENST00000460112.3_Silent_p.R313R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	429					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTTGCTGCCCCTGGTATCAA	0.592000													8	30					0	0	0.335167	0	0
RAD54L2	23132	broad.mit.edu	37	3	51690122	51690122	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:51690122G>A	ENST00000409535.1	+	19	3287	c.3162G>A	c.(3160-3162)atG>atA	p.M1054I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.M748I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1054						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ATCCATCCATGAACTTTCCCA	0.577000													34	79					0	0	0.779181	0	0
NEK4	6787	broad.mit.edu	37	3	52794947	52794947	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:52794947G>A	ENST00000233027.5	-	6	1029	c.827C>T	c.(826-828)aCc>aTc	p.T276I	NEK4_ENST00000383721.4_Missense_Mutation_p.T276I|NEK4_ENST00000535191.1_Missense_Mutation_p.T187I	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	276					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATTTTTGGAGGTTTTTCTTTA	0.343000													16	57					0	0	0.575678	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958750	51958750	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51958750C>T	ENST00000321424.3	-	4	1039	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E232K|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E216K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	325	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGTGAATTCCCCTTCATCC	0.647000													20	42					0	0	0.639603	0	0
TNR	7143	broad.mit.edu	37	1	175365861	175365861	+	Silent	SNP	C	C	T	rs141776089	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:175365861C>T	ENST00000367674.1	-	5	1767	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	TNR_ENST00000263525.2_Silent_p.T353T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	353	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCACATATTCCGTCACTGCCA	0.617000													43	81					0	0	0.870114	0	0
LYNX1	66004	broad.mit.edu	37	8	143856634	143856634	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:143856634G>A	ENST00000398906.1	-	4	686	c.302C>T	c.(301-303)aCc>aTc	p.T101I	LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000345173.6_Missense_Mutation_p.T101I|LYNX1_ENST00000395192.2_Missense_Mutation_p.T101I	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	12						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGGCCAGGGTGGCCGGGGT	0.632000													9	23					0	0	0.335167	0	0
GPR78	27201	broad.mit.edu	37	4	8588947	8588947	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:8588947C>T	ENST00000382487.4	+	3	1366	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	317					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGAACCCCGCGCCCAGC	0.672000													33	47					0	0	0.796494	0	0
ANO4	121601	broad.mit.edu	37	12	101493479	101493479	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:101493479C>T	ENST00000392979.3	+	21	2386	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	ANO4_ENST00000550015.1_Silent_p.F230F|ANO4_ENST00000392977.3_Silent_p.F710F|ANO4_ENST00000299222.9_Silent_p.F230F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	710						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGGACTCTTCGATGAATACT	0.333000										HNSCC(74;0.22)			30	46					0	0	0.827153	0	0
TAF1L	138474	broad.mit.edu	37	9	32633513	32633513	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:32633513C>T	ENST00000242310.4	-	1	2154	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	689					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTGTGAGATCCTGAGGTGTG	0.433000													34	45					0	0	0.827153	0	0
PRKG2	5593	broad.mit.edu	37	4	82096107	82096107	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:82096107C>A	ENST00000395578.1	-	3	584	c.468G>T	c.(466-468)aaG>aaT	p.K156N	RP11-100N20.1_ENST00000505175.1_RNA|PRKG2_ENST00000264399.1_Missense_Mutation_p.K156N|PRKG2_ENST00000418486.2_Missense_Mutation_p.K156N|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	156					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TAATGAGCTTCTTCTCACTGG	0.318000													31	68					9.65963e-10	9.7959e-10	0.779181	1	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:121929509C>T	ENST00000265922.3	-	8	2600	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													26	82					0	0	0.729181	0	0
TTN	7273	broad.mit.edu	37	2	179436952	179436952	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179436952G>A	ENST00000589042.1	-	326	74131	c.73907C>T	c.(73906-73908)tCt>tTt	p.S24636F	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15696F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22995F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22068F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15571F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15763F|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22995	Ig-like 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCCCAAGAGAGTGACAC	0.488000													23	19					0	0	0.717897	0	0
OR2J2	26707	broad.mit.edu	37	6	29142309	29142309	+	Silent	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:29142309A>G	ENST00000377167.2	+	1	999	c.897A>G	c.(895-897)aaA>aaG	p.K299K		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCATGTAAAAGGGGCAGCGA	0.438000													3	95					0	0	0.150653	0	0
THSD7B	80731	broad.mit.edu	37	2	138169397	138169397	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:138169397G>A	ENST00000409968.1	+	14	3092	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D941N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D972N					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCCTGTTCTGATAAAAATGG	0.532000													21	19					0	0	0.592651	0	0
FOXK2	3607	broad.mit.edu	37	17	80543973	80543973	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:80543973G>A	ENST00000335255.5	+	7	1647	c.1473G>A	c.(1471-1473)gcG>gcA	p.A491A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	491					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGGCCCCAGCGAACACGTACA	0.647000													32	21					0	0	0.819951	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735006	56735006	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:56735006C>T	ENST00000587340.1	-	5	1277	c.582G>A	c.(580-582)agG>agA	p.R194R	ZSCAN5A_ENST00000592355.1_Silent_p.R194R|ZSCAN5A_ENST00000391713.1_Silent_p.R194R|ZSCAN5A_ENST00000254165.3_Silent_p.R77R|ZSCAN5A_ENST00000587492.1_Silent_p.R48R			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCACCTGCCTCCTGGACAATG	0.612000													15	35					0	0	0.520397	0	0
PCLO	27445	broad.mit.edu	37	7	82578913	82578913	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:82578913A>T	ENST00000423517.2	-	6	11328	c.10991T>A	c.(10990-10992)gTt>gAt	p.V3664D	PCLO_ENST00000333891.8_Missense_Mutation_p.V3664D|PCLO_ENST00000437081.1_Missense_Mutation_p.V384D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3595					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						TGCTGGGGGAACTTTAGCCAT	0.478000													147	176					0	0	0.870114	0	0
SLC25A21	89874	broad.mit.edu	37	14	37203756	37203756	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:37203756T>C	ENST00000331299.5	-	4	741	c.226A>G	c.(226-228)Att>Gtt	p.I76V	SLC25A21_ENST00000555449.1_Missense_Mutation_p.I76V	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	76					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GGTGGCAGAATTCCCTTGTAA	0.398000													5	10					0	0	0.248553	0	0
CECR1	51816	broad.mit.edu	37	22	17663631	17663631	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:17663631C>T	ENST00000399839.1	-	8	1372	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	CECR1_ENST00000262607.3_Missense_Mutation_p.D368N|CECR1_ENST00000449907.2_Missense_Mutation_p.D326N|CECR1_ENST00000330232.4_Missense_Mutation_p.D127N|CECR1_ENST00000399837.2_Missense_Mutation_p.D368N			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	368					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGTTCCTGTCTATGGAAGTA	0.532000													24	40					0	0	0.693898	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:58722338C>T	ENST00000300079.5	+	5	425	c.375C>T	c.(373-375)atC>atT	p.I125I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.I94I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000													19	26					0	0	0.575678	0	0
GAS2	2620	broad.mit.edu	37	11	22777462	22777462	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:22777462G>A	ENST00000454584.2	+	7	991	c.686G>A	c.(685-687)gGa>gAa	p.G229E	GAS2_ENST00000278187.3_Missense_Mutation_p.G229E|GAS2_ENST00000433790.1_Missense_Mutation_p.G229E	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	229	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTCTCCCAAGGAAGATACCGA	0.408000													13	36					0	0	0.479597	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:1262427C>T	ENST00000446702.2	+	3	739	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P38S|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	38	Ig-like C2-type 1.				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)		TGTCATTTTTCCTTTGGATTT	0.398000													34	63					0	0	0.812448	0	0
MKI67	4288	broad.mit.edu	37	10	129906685	129906685	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:129906685G>A	ENST00000368654.3	-	13	3794	c.3419C>T	c.(3418-3420)cCa>cTa	p.P1140L	MKI67_ENST00000368653.3_Missense_Mutation_p.P780L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1140	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGCTTGTTGGAGTGTCCAC	0.468000													119	157					0	0	0.870114	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726867	95726867	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:95726867G>A	ENST00000324972.6	+	17	2093	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D614N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D617N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D617N|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D597N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	634					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAACAGAGCTGATAGCGAGGA	0.512000													40	86					0	0	0.870114	0	0
ABCA4	24	broad.mit.edu	37	1	94528687	94528687	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:94528687T>C	ENST00000370225.3	-	12	1827	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T581A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	581					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTTATTGGTTTTCTCCACC	0.473000													87	175					0	0	0.870114	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350376	16350376	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16350376C>T	ENST00000375692.1	+	4	310	c.182C>T	c.(181-183)gCc>gTc	p.A61V	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A61V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A61V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A61V|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	61					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGCTCATGGCCCTGGTCAGC	0.602000													36	53					0	0	0.834066	0	0
SLC26A5	375611	broad.mit.edu	37	7	103038451	103038451	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:103038451C>T	ENST00000306312.3	-	9	1160	c.899G>A	c.(898-900)gGa>gAa	p.G300E	SLC26A5_ENST00000432958.2_Missense_Mutation_p.G300E|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G300E|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G300E|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G300E|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G300E|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G263E|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G300E|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G300E	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	300					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AATGCCAGTTCCCATTACGAC	0.363000													81	82					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75037752	75037752	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:75037752C>T	ENST00000326665.5	-	14	3860	c.3642G>A	c.(3640-3642)ggG>ggA	p.G1214G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1214	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCTAAGGCCCCCTCTCCAT	0.602000													17	66					0	0	0.520397	0	0
OR51A4	401666	broad.mit.edu	37	11	4968138	4968138	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4968138G>A	ENST00000380373.2	-	1	218	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.423000													20	58					0	0	0.639603	0	0
ADNP	23394	broad.mit.edu	37	20	49509288	49509288	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:49509288G>T	ENST00000396029.3	-	5	2530	c.1963C>A	c.(1963-1965)Cca>Aca	p.P655T	ADNP_ENST00000396032.3_Missense_Mutation_p.P655T|ADNP_ENST00000371602.4_Missense_Mutation_p.P655T|ADNP_ENST00000349014.3_Missense_Mutation_p.P655T	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	655						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTCTCAACTGGATGAACCGTC	0.443000													42	114					9.58827e-17	9.80034e-17	0.870114	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512186	104512186	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:104512186G>A	ENST00000372582.1	+	5	1415	c.659G>A	c.(658-660)gGa>gAa	p.G220E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G220E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	220	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATATGAAGGAAAACTTGTA	0.333000													30	43					0	0	0.760397	0	0
CST6	1474	broad.mit.edu	37	11	65780320	65780320	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:65780320C>T	ENST00000312134.2	+	2	468	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	88					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						TCAAGTACTTCCTGACGATGG	0.607000													20	77					0	0	0.654019	0	0
OR52D1	390066	broad.mit.edu	37	11	5510840	5510840	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5510840G>A	ENST00000322641.5	+	1	926	c.904G>A	c.(904-906)Gag>Aag	p.E302K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAACCAAGGAGATTCGGAG	0.448000													9	49					0	0	0.335167	0	0
TPR	7175	broad.mit.edu	37	1	186302359	186302359	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:186302359G>A	ENST00000367478.3	-	37	5646	c.5350C>T	c.(5350-5352)Cct>Tct	p.P1784S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1784					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCAATCTGAGGATGACTCTGT	0.438000			T	NTRK1	papillary thyroid								32	99					0	0	0.804634	0	0
USP10	9100	broad.mit.edu	37	16	84808815	84808815	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:84808815C>T	ENST00000219473.7	+	13	2306	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	USP10_ENST00000570191.1_Silent_p.T735T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	731					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GCCACCGAACCTATCGGCTCT	0.398000													23	42					0	0	0.729181	0	0
RBP5	83758	broad.mit.edu	37	12	7277224	7277224	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:7277224C>T	ENST00000266560.3	-	3	521		c.e3+1			NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular							cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	ACCCCATTTACCAGATACAGC	0.602000													67	135					0	0	0.870114	0	0
PRKG1	5592	broad.mit.edu	37	10	54048502	54048502	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:54048502C>T	ENST00000373980.4	+	15	2143	c.1726C>T	c.(1726-1728)Cca>Tca	p.P576S	PRKG1_ENST00000373975.2_Missense_Mutation_p.P279S|PRKG1_ENST00000373985.1_Missense_Mutation_p.P549S|PRKG1_ENST00000401604.2_Missense_Mutation_p.P561S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	561	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTTCTCAGGCCCAGATCCTAT	0.353000													33	43					0	0	0.840704	0	0
EFHB	151651	broad.mit.edu	37	3	19926043	19926043	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:19926043G>A	ENST00000295824.9	-	11	2159	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	EFHB_ENST00000344838.4_Silent_p.L536L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	666					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGGCTTTATGAGGAGAGTTT	0.368000													10	76					0	0	0.435327	0	0
NPAP1	23742	broad.mit.edu	37	15	24922704	24922704	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:24922704C>T	ENST00000329468.2	+	1	2164	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGCATCTGCCCACCTAACCTC	0.483000													50	104					0	0	0.870114	0	0
TRIM13	10206	broad.mit.edu	37	13	50586298	50586298	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:50586298C>T	ENST00000378182.3	+	2	960	c.222C>T	c.(220-222)tcC>tcT	p.S74S	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Silent_p.S74S|TRIM13_ENST00000298772.5_Silent_p.S77S|TRIM13_ENST00000356017.4_Silent_p.S77S|TRIM13_ENST00000420995.2_Silent_p.S74S	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	74					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTAATTACTCCCTGAAGGGTA	0.453000													24	58					0	0	0.654019	0	0
SSTR1	6751	broad.mit.edu	37	14	38679184	38679184	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:38679184G>A	ENST00000267377.2	+	3	1207	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	197					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTCTTCTCTCGCACCGCGGCC	0.632000													17	24					0	0	0.539581	0	0
KCNK10	54207	broad.mit.edu	37	14	88652128	88652128	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:88652128C>T	ENST00000340700.5	-	7	1819	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	KCNK10_ENST00000312350.5_Silent_p.R461R|KCNK10_ENST00000319231.5_Silent_p.R461R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	456					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTGTTTTTCCTCTTGGTGA	0.537000													35	86					0	0	0.834066	0	0
C1orf61	10485	broad.mit.edu	37	1	156386625	156386625	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156386625G>A	ENST00000368243.1	-	3	123	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	C1orf61_ENST00000476966.1_Intron	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	3						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TCCTCAGTCAGGAACATGCCA	0.418000													42	76					0	0	0.847076	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	G	A	rs146325339	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55179098G>A	ENST00000391736.1	+	13	1369	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_ENST00000391733.3_Missense_Mutation_p.D353N|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.D352N|LILRB4_ENST00000430952.2_Missense_Mutation_p.D351N	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000													25	74					0	0	0.717897	0	0
PSG9	5678	broad.mit.edu	37	19	43766069	43766069	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:43766069C>T	ENST00000244293.7	-	3	718	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG9_ENST00000593948.1_Missense_Mutation_p.E218K|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.E218K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.512000													140	337					0	0	0.870114	0	0
C1orf56	54964	broad.mit.edu	37	1	151020721	151020721	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:151020721G>A	ENST00000368926.5	+	1	506	c.398G>A	c.(397-399)gGg>gAg	p.G133E		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	133						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATACAGCGGGGAGTTCCAGC	0.557000													21	51					0	0	0.592651	0	0
PAH	5053	broad.mit.edu	37	12	103245512	103245512	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:103245512C>T	ENST00000553106.1	-	8	1337	c.865G>A	c.(865-867)Gga>Aga	p.G289R	PAH_ENST00000307000.2_Missense_Mutation_p.G284R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	289					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCACATGTCCCAACAGCTCA	0.468000													23	54					0	0	0.740014	0	0
OR1S2	219958	broad.mit.edu	37	11	57971480	57971480	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:57971480G>A	ENST00000302592.6	-	1	173	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TAGCCACAATGATGAGCCCGT	0.468000													18	90					0	0	0.592651	0	0
PASD1	139135	broad.mit.edu	37	X	150844513	150844513	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:150844513G>C	ENST00000370357.4	+	16	2465	c.2220G>C	c.(2218-2220)caG>caC	p.Q740H		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	740						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATCCACAGGCTTTCCAAG	0.527000													54	102					0	0	0.870114	0	0
NAGA	4668	broad.mit.edu	37	22	42464507	42464507	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:42464507A>C	ENST00000396398.3	-	2	620	c.88T>G	c.(88-90)Tgg>Ggg	p.W30G	NAGA_ENST00000403363.1_Missense_Mutation_p.W30G|NAGA_ENST00000402937.1_Missense_Mutation_p.W30G	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	30					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGGCCAGCCAGCCCATGGGT	0.582000													39	81					0	0	0.847076	0	0
ZNF676	163223	broad.mit.edu	37	19	22363108	22363108	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22363108G>A	ENST00000397121.2	-	3	1728	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTGCAGCATGAATTCTCTTG	0.393000													41	117					0	0	0.859065	0	0
SNPH	9751	broad.mit.edu	37	20	1285629	1285629	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1285629G>A	ENST00000381867.1	+	7	1190	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SNPH_ENST00000381873.3_Missense_Mutation_p.R139Q			O15079	SNPH_HUMAN	syntaphilin	139					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGGAGGCCCGAAAGGAGATC	0.557000													38	121					0	0	0.840704	0	0
MIER2	54531	broad.mit.edu	37	19	325681	325681	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:325681G>A	ENST00000264819.4	-	7	619	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	203	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCAGCTTGGAACTGAGGTC	0.602000													34	71					0	0	0.870114	0	0
DBR1	51163	broad.mit.edu	37	3	137893608	137893608	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:137893608G>C	ENST00000260803.4	-	1	183	c.30C>G	c.(28-30)caC>caG	p.H10Q	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	10						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCAGCTCGCCGTGGCAGCAGC	0.687000													4	14					0	0	0.184627	0	0
TJP3	27134	broad.mit.edu	37	19	3734316	3734316	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:3734316C>T	ENST00000382008.3	+	8	1094	c.911C>T	c.(910-912)cCc>cTc	p.P304L	TJP3_ENST00000589378.1_Intron|TJP3_ENST00000587686.1_Intron|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.P323L|TJP3_ENST00000541714.2_Intron			O95049	ZO3_HUMAN	tight junction protein 3	304						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCTCCCCCTGCAGAC	0.602000													16	41					0	0	0.539581	0	0
OR4B1	119765	broad.mit.edu	37	11	48238866	48238866	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:48238866C>T	ENST00000309562.2	+	1	523	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTCTGTGGTCCCAATGTGAT	0.498000													46	85					0	0	0.870114	0	0
MARCH1	55016	broad.mit.edu	37	4	164534518	164534518	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:164534518G>A	ENST00000503008.1	-	5	1166	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	MARCH1_ENST00000514618.1_Missense_Mutation_p.P64S|MARCH1_ENST00000274056.7_Missense_Mutation_p.P64S|MARCH1_ENST00000339875.5_Missense_Mutation_p.P47S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	64	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGCTCCTGGGAGCTGTCCCT	0.413000													38	73					0	0	0.870114	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967854	35967854	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:35967854C>T	ENST00000490799.1	-	4	713	c.360G>A	c.(358-360)ctG>ctA	p.L120L	SLC26A8_ENST00000394602.2_Silent_p.L120L|SLC26A8_ENST00000355574.2_Silent_p.L120L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	120					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGGAGGAATCAGTTGCCTTG	0.378000													30	70					0	0	0.769981	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600573	1600573	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1600573G>A	ENST00000381605.4	-	1	82	c.18C>T	c.(16-18)tcC>tcT	p.S6S	SIRPB1_ENST00000568365.1_Silent_p.S6S|SIRPB1_ENST00000279477.7_Silent_p.S6S|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.S6S|RP4-576H24.4_ENST00000564763.1_Silent_p.S6S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	6					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGGCCAGGAGGCTGGCA	0.562000													27	57					0	0	0.750413	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956962	33956962	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:33956962C>T	ENST00000361328.3	+	6	1257	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	ZSCAN20_ENST00000373413.2_Silent_p.G314G	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	368					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCAAGGGGCTTCCTGCGGA	0.537000													34	109					0	0	0.847076	0	0
ZFAT	57623	broad.mit.edu	37	8	135669926	135669926	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:135669926G>A	ENST00000520727.1	-	3	337	c.38C>T	c.(37-39)tCg>tTg	p.S13L	ZFAT_ENST00000523399.1_Missense_Mutation_p.S25L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S13L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S13L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S13L|ZFAT_ENST00000377838.3_Missense_Mutation_p.S25L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.S13L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGGAGTTCCGACTGATTTGG	0.408000													7	40					0	0	0.335167	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128305419	128305419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:128305419G>A	ENST00000265960.3	-	7	1209	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.Q101*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.Q101*|MAPKAP1_ENST00000373498.1_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000394060.3_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.Q42*	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	293					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TTGTCCACCTGAATAAGGGAG	0.393000													42	95					0	0	0.870114	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681742	10681742	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:10681742G>A	ENST00000302079.6	-	46	7166	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	PIEZO2_ENST00000538948.1_Silent_p.F409F|PIEZO2_ENST00000503781.3_Silent_p.F2452F|PIEZO2_ENST00000580640.1_Silent_p.F2477F|PIEZO2_ENST00000285141.4_Silent_p.F244F			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2421						integral to membrane	ion channel activity										CACTCATTGTGAAAATAGGCT	0.393000													25	50					0	0	0.750413	0	0
BRINP2	57795	broad.mit.edu	37	1	177250488	177250488	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:177250488C>T	ENST00000361539.4	+	8	2488	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		726						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCAGGGACCGGGTGAACCA	0.537000													24	84					0	0	0.681144	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784265	22784265	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22784265G>A	ENST00000600260.1	+	0	699				RN7SL860P_ENST00000473738.2_RNA	NR_033899.1																						AGGAAGAGGAGGGAGCCCAGG	0.577000													3	3					0	0	0.115264	0	0
GREM1	26585	broad.mit.edu	37	15	33023430	33023430	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:33023430C>T	ENST00000300177.4	+	2	728	c.539C>T	c.(538-540)tCc>tTc	p.S180F	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Missense_Mutation_p.S139F|GREM1_ENST00000322805.4_Missense_Mutation_p.S139F	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	180	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CGTTGCATATCCATCGATTTG	0.478000													23	66					0	0	0.667858	0	0
TRHDE	29953	broad.mit.edu	37	12	72866853	72866853	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:72866853G>A	ENST00000261180.4	+	5	1438	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	448					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCAGTGGTTTGGTGACCTTGT	0.368000													51	180					0	0	0.870114	0	0
NONO	4841	broad.mit.edu	37	X	70511803	70511803	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:70511803G>A	ENST00000535149.1	+	2	705	c.62G>A	c.(61-63)gGa>gAa	p.G21E	NONO_ENST00000276079.8_Missense_Mutation_p.G110E|NONO_ENST00000373841.1_Missense_Mutation_p.G110E|NONO_ENST00000373856.3_Missense_Mutation_p.G110E	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	110					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAGGATAAAGGATTTGGCTTT	0.428000			T	TFE3	papillary renal cancer								36	88					0	0	0.864702	0	0
SAMD9	54809	broad.mit.edu	37	7	92730924	92730924	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:92730924C>T	ENST00000379958.2	-	3	4756	c.4487G>A	c.(4486-4488)gGa>gAa	p.G1496E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1496						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCAATTTTTCCTTTGTGAAC	0.378000													51	41					0	0	0.870114	0	0
PDE11A	50940	broad.mit.edu	37	2	178705018	178705018	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:178705018T>C	ENST00000286063.5	-	6	1777	c.1460A>G	c.(1459-1461)aAc>aGc	p.N487S	PDE11A_ENST00000409504.1_Missense_Mutation_p.N129S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.N129S|PDE11A_ENST00000358450.4_Missense_Mutation_p.N237S|PDE11A_ENST00000389683.3_Missense_Mutation_p.N43S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	487	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATCACTGATGTTCACTGGAAG	0.458000									Primary Pigmented Nodular Adrenocortical Disease, Familial				36	38					0	0	0.827153	0	0
STOML3	161003	broad.mit.edu	37	13	39542571	39542571	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:39542571G>A	ENST00000379631.4	-	6	961	c.617C>T	c.(616-618)gCc>gTc	p.A206V	STOML3_ENST00000423210.1_Missense_Mutation_p.A197V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	206						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CTCAGCCTCGGCTGCCATGGA	0.562000													58	114					0	0	0.870114	0	0
WRB	7485	broad.mit.edu	37	21	40762628	40762628	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:40762628C>T	ENST00000333781.5	+	2	248	c.107C>T	c.(106-108)tCc>tTc	p.S36F	WRB_ENST00000380708.1_Missense_Mutation_p.S2F|WRB_ENST00000398753.1_Missense_Mutation_p.S2F|WRB_ENST00000541890.1_Missense_Mutation_p.S36F|WRB_ENST00000466787.1_3'UTR	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	36						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGCCAGATGTCCAGGGTGCTG	0.587000													11	24					0	0	0.479597	0	0
KCNB2	9312	broad.mit.edu	37	8	73848172	73848172	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:73848172C>T	ENST00000523207.1	+	3	1170	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	194					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTTCCAGATCCTGGCCATCG	0.463000													53	197					0	0	0.870114	0	0
MEGF8	1954	broad.mit.edu	37	19	42841001	42841001	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:42841001T>A	ENST00000334370.4	+	7	1922	c.1287T>A	c.(1285-1287)gaT>gaA	p.D429E	MEGF8_ENST00000251268.6_Missense_Mutation_p.D429E	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	429						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCACGTGGATCGGCATGTGT	0.607000													35	68					0	0	0.834066	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363745	98363745	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:98363745C>T	ENST00000339364.5	-	15	2351	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	PIK3AP1_ENST00000371109.3_Silent_p.G343G|PIK3AP1_ENST00000371110.2_Silent_p.G566G	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	744						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCTCGTTGTCCCCTTCCATCC	0.547000													3	10					0	0	0.115264	0	0
TBX22	50945	broad.mit.edu	37	X	79286598	79286598	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:79286598C>T	ENST00000442340.1	+	9	1681	c.1191C>T	c.(1189-1191)aaC>aaT	p.N397N	TBX22_ENST00000373294.5_Silent_p.N517N|TBX22_ENST00000373296.3_Silent_p.N517N|TBX22_ENST00000373291.1_Silent_p.N397N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	517					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCAATTAACCATTACCTTT	0.323000													12	24					0	0	0.479597	0	0
GRIK2	2898	broad.mit.edu	37	6	102250277	102250277	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:102250277G>A	ENST00000369138.1	+	8	1657	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	GRIK2_ENST00000413795.1_Silent_p.L389L|GRIK2_ENST00000369134.4_Silent_p.L340L|GRIK2_ENST00000421544.1_Silent_p.L389L|GRIK2_ENST00000318991.6_Silent_p.L389L|GRIK2_ENST00000369137.3_Silent_p.L389L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	389					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTTTGATTTGGATGTGATCA	0.338000													24	60					0	0	0.729181	0	0
AGGF1	55109	broad.mit.edu	37	5	76351386	76351386	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:76351386G>C	ENST00000312916.7	+	11	2063	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	561					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAGAAGAAAAGAATTAAAGAA	0.294000													15	31					0	0	0.575678	0	0
CXorf56	63932	broad.mit.edu	37	X	118678358	118678358	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:118678358C>T	ENST00000320339.4	-	4	505	c.234G>A	c.(232-234)ggG>ggA	p.G78G	CXorf56_ENST00000476164.1_Silent_p.G127G|CXorf56_ENST00000486230.1_Silent_p.G127G|CXorf56_ENST00000371594.4_Silent_p.G127G|CXorf56_ENST00000536133.1_Silent_p.G113G	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	127							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TGTTCGTTTTCCCAAAGCCCT	0.443000													18	94					0	0	0.575678	0	0
ARAF	369	broad.mit.edu	37	X	47424737	47424737	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47424737C>T	ENST00000377045.4	+	6	739	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ARAF_ENST00000377039.2_Missense_Mutation_p.P182L|ARAF_ENST00000290277.6_Missense_Mutation_p.P182L	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	182					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTGCTAACCCCCCAGGGTCCC	0.537000													28	40					0	0	0.750413	0	0
HYAL3	8372	broad.mit.edu	37	3	50332838	50332838	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:50332838G>A	ENST00000336307.1	-	2	468	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.H66Y|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.H66Y	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	66					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGACCGTGAAAATGCTGG	0.552000													43	123					0	0	0.870114	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64756115	64756115	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:64756115C>T	ENST00000536360.1	-	4	1326	c.513G>A	c.(511-513)aaG>aaA	p.K171K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	171					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTGTGGTATTCTTTAAAGGTT	0.323000													38	73					0	0	0.864702	0	0
LINC00303	284573	broad.mit.edu	37	1	204009438	204009438	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:204009438G>A	ENST00000367207.3	-	0	258																											TGTGTATGGAGACTGTAGGGG	0.453000													6	13					0	0	0.307466	0	0
KLHL38	340359	broad.mit.edu	37	8	124663999	124663999	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:124663999C>T	ENST00000325995.7	-	1	1191	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	390										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCTCCAATCCCCCCGATGGAG	0.582000													13	32					0	0	0.411799	0	0
NTRK1	4914	broad.mit.edu	37	1	156844747	156844747	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156844747C>T	ENST00000368196.3	+	10	1403	c.1283C>T	c.(1282-1284)aCg>aTg	p.T428M	NTRK1_ENST00000358660.3_Missense_Mutation_p.T428M|NTRK1_ENST00000524377.1_Missense_Mutation_p.T434M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T398M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	434					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTCCTTTCTACGCTGCTCCTT	0.582000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			42	140					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179636157	179636157	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179636157C>T	ENST00000589042.1	-	34	8121	c.7897G>A	c.(7897-7899)Gaa>Aaa	p.E2633K	TTN_ENST00000359218.5_Missense_Mutation_p.E2587K|TTN_ENST00000591111.1_Missense_Mutation_p.E2633K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2633K|TTN_ENST00000360870.5_Missense_Mutation_p.E2633K|TTN_ENST00000460472.2_Missense_Mutation_p.E2587K|TTN_ENST00000342175.6_Missense_Mutation_p.E2587K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2369	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGGGATTCAGCTACGGTC	0.458000													49	44					0	0	0.870114	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254232	1254232	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:1254232C>T	ENST00000348261.5	+	10	2473	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P742L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P742L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	742					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGCTGGGACCCCACGCGACCA	0.711000													4	12					0	0	0.184627	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60992363	60992363	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:60992363C>T	ENST00000252998.1	-	4	273	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GCTCCTCGATCCTCTGGGCGT	0.622000													4	5					0	0	0.184627	0	0
ATCAY	85300	broad.mit.edu	37	19	3907764	3907764	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:3907764C>T	ENST00000450849.2	+	5	858	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	ATCAY_ENST00000600960.1_Missense_Mutation_p.P131S|ATCAY_ENST00000398448.3_Missense_Mutation_p.P137S|ATCAY_ENST00000301260.6_Missense_Mutation_p.P131S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	131					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CAAGAACATGCCCGGGGACAG	0.667000													24	46					0	0	0.740014	0	0
AMER1	139285	broad.mit.edu	37	X	63410602	63410602	+	Silent	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:63410602A>G	ENST00000330258.3	-	2	2837	c.2565T>C	c.(2563-2565)caT>caC	p.H855H	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AGAATCGACTATGGTAGTTGT	0.547000													2	6					0	0	0.115264	0	0
DPYS	1807	broad.mit.edu	37	8	105441861	105441861	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:105441861C>T	ENST00000351513.2	-	5	994	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	288					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTGCCATTCTTTATTCCAG	0.478000													29	41					0	0	0.750413	0	0
COL27A1	85301	broad.mit.edu	37	9	117027750	117027750	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:117027750G>A	ENST00000356083.3	+	32	3779	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1130	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTCCCAGGAGAACCGGTAAG	0.622000													13	34					0	0	0.575678	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	66					0	0	0.184627	0	0
VPS13B	157680	broad.mit.edu	37	8	100287337	100287337	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:100287337C>T	ENST00000395996.1	+	19	2790	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	VPS13B_ENST00000357162.2_Silent_p.P893P|VPS13B_ENST00000358544.2_Silent_p.P893P			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	893					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTTGATTCCCTTGCTTCAGG	0.353000													4	18					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9049091	9049091	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9049091G>A	ENST00000397910.4	-	5	32743	c.32540C>T	c.(32539-32541)tCa>tTa	p.S10847L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10849	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						TGTGGTGTCTGATTTACTATG	0.493000													35	95					0	0	0.847076	0	0
EIF6	3692	broad.mit.edu	37	20	33872285	33872285	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:33872285C>T	ENST00000374450.3	-	2	270	c.6G>A	c.(4-6)gcG>gcA	p.A2A	EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Silent_p.A2A|EIF6_ENST00000374443.3_Silent_p.A2A	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	2					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAGCTCGGACCGCCATGAGGC	0.637000													47	125					0	0	0.870114	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418190	48418190	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:48418190C>T	ENST00000376771.4	+	6	1235	c.894C>T	c.(892-894)gcC>gcT	p.A298A	TBC1D25_ENST00000537536.1_Silent_p.A44A|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	298	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGACCGGGCCCACCCCTACT	0.632000													9	40					0	0	0.335167	0	0
NLGN2	57555	broad.mit.edu	37	17	7318850	7318850	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:7318850C>T	ENST00000302926.2	+	6	1131	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P353L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	353					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCTTTGGGCCCGTGGTGGAT	0.612000													22	36					0	0	0.639603	0	0
ACE	1636	broad.mit.edu	37	17	61571353	61571353	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:61571353C>T	ENST00000577647.1	+	10	1530	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	ACE_ENST00000490216.2_Silent_p.V495V|ACE_ENST00000428043.1_Silent_p.V1069V|ACE_ENST00000290863.6_Silent_p.V495V|ACE_ENST00000290866.4_Silent_p.V1069V|ACE_ENST00000413513.3_Silent_p.V495V|ACE_ENST00000421982.2_Silent_p.V315V			P12821	ACE_HUMAN	angiotensin I converting enzyme	1069	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTACCTCGTCGATCAGTGGC	0.537000													25	29					0	0	0.693898	0	0
SLC6A12	6539	broad.mit.edu	37	12	300272	300272	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:300272C>T	ENST00000428720.1	-	16	2550	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	SLC6A12_ENST00000424061.2_Missense_Mutation_p.E603K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E603K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E603K|SLC6A12_ENST00000536824.1_Missense_Mutation_p.E603K	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	603					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATCAGTCCTTCCCTTGTTGGG	0.622000													4	17					0	0	0.248553	0	0
SULF2	55959	broad.mit.edu	37	20	46319016	46319016	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:46319016G>A	ENST00000359930.4	-	5	1442	c.591C>T	c.(589-591)acC>acT	p.T197T	SULF2_ENST00000484875.1_Silent_p.T197T|SULF2_ENST00000467815.1_Silent_p.T197T|SULF2_ENST00000361612.4_Silent_p.T197T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	197					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGCTGTCATTGGTGATGAGGT	0.587000													11	36					0	0	0.435327	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896384	205896384	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:205896384C>T	ENST00000367135.3	-	11	1361	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	SLC26A9_ENST00000367134.2_Missense_Mutation_p.M416I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.M416I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	416						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCATGGTGATCATCACCACCA	0.483000													32	104					0	0	0.796494	0	0
DLG5	9231	broad.mit.edu	37	10	79576333	79576333	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:79576333G>A	ENST00000372391.2	-	20	4006	c.4001C>T	c.(4000-4002)tCc>tTc	p.S1334F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.S994F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1334					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCCCCGAGGGACGCGGGGTT	0.627000													38	50					0	0	0.853193	0	0
SEC16A	9919	broad.mit.edu	37	9	139370631	139370631	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:139370631G>A	ENST00000313050.7	-	1	1510	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	SEC16A_ENST00000431893.2_Silent_p.D301D|SEC16A_ENST00000371706.3_Silent_p.D301D|SEC16A_ENST00000290037.6_Silent_p.D301D	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	301					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGAGGAAGGGTCCAAATTGA	0.572000													18	50					0	0	0.539581	0	0
CIB2	10518	broad.mit.edu	37	15	78401635	78401635	+	Silent	SNP	G	G	A	rs150519426		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:78401635G>A	ENST00000258930.3	-	4	616	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CIB2_ENST00000560618.1_Silent_p.S53S|CIB2_ENST00000557846.1_Silent_p.S47S|CIB2_ENST00000539011.1_Silent_p.S53S	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	96	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CGCAGAGCACGGAAAACATGT	0.537000													29	53					0	0	0.750413	0	0
POTEE	445582	broad.mit.edu	37	2	132021833	132021833	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:132021833C>T	ENST00000356920.5	+	15	2899	c.2805C>T	c.(2803-2805)tcC>tcT	p.S935S	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	935	Actin-like.						ATP binding										CCAGCTCCTCCCTAGAGAAGA	0.627000													7	223					0	0	0.435327	0	0
MYO18B	84700	broad.mit.edu	37	22	26422717	26422717	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:26422717G>A	ENST00000335473.7	+	43	7027	c.6777G>A	c.(6775-6777)agG>agA	p.R2259R	MYO18B_ENST00000536101.1_Silent_p.R2259R|MYO18B_ENST00000407587.2_Silent_p.R2260R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2259						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTCCGGAGGAAGAGAGCCC	0.632000													3	11					0	0	0.115264	0	0
ACSM1	116285	broad.mit.edu	37	16	20648709	20648709	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:20648709G>A	ENST00000219151.4	-	8	1248	c.38C>T	c.(37-39)cCa>cTa	p.P13L	ACSM1_ENST00000520010.1_Missense_Mutation_p.P394L|ACSM1_ENST00000307493.4_Missense_Mutation_p.P394L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	394					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCGTAGGGTGGAGTGGCCTT	0.537000													34	100					0	0	0.859065	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059053	47059053	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:47059053C>T	ENST00000406902.1	+	6	796	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	GRAMD4_ENST00000361034.3_Missense_Mutation_p.P195S			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	195					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GACAGAGGAACCCCTGAGCGC	0.662000													46	82					0	0	0.870114	0	0
AGMO	392636	broad.mit.edu	37	7	15425094	15425094	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:15425094C>T	ENST00000342526.3	-	10	1220	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	351					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGGTCTCTTCATAAAATGCC	0.358000													28	74					0	0	0.706142	0	0
WHAMM	123720	broad.mit.edu	37	15	83499402	83499402	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:83499402C>T	ENST00000286760.4	+	9	1792	c.1693C>T	c.(1693-1695)Cca>Tca	p.P565S		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	565						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ACCTGTGGCTCCAAACCTGCC	0.507000													89	199					0	0	0.870114	0	0
SRRM2	23524	broad.mit.edu	37	16	2812878	2812878	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:2812878C>T	ENST00000301740.8	+	11	2898	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	783	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGTCTTCCCCATGCCCTA	0.532000													81	204					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82578914	82578914	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:82578914C>T	ENST00000423517.2	-	6	11327	c.10990G>A	c.(10990-10992)Gtt>Att	p.V3664I	PCLO_ENST00000333891.8_Missense_Mutation_p.V3664I|PCLO_ENST00000437081.1_Missense_Mutation_p.V384I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3595					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						GCTGGGGGAACTTTAGCCATA	0.478000													144	174					0	0	0.870114	0	0
CORO2B	10391	broad.mit.edu	37	15	69011509	69011509	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:69011509C>T	ENST00000543950.1	+	10	1446	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	CORO2B_ENST00000566799.1_Silent_p.Y369Y|CORO2B_ENST00000540068.1_Silent_p.Y364Y|CORO2B_ENST00000261861.5_Silent_p.Y364Y	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	369					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAGACATTTACCCAATGACAC	0.592000													77	203					0	0	0.870114	0	0
KDM4B	23030	broad.mit.edu	37	19	5131448	5131448	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:5131448G>A	ENST00000159111.4	+	12	1895	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	KDM4B_ENST00000536461.1_Silent_p.P593P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	559					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAAGGGTCCGACCTGGAAGG	0.662000													25	53					0	0	0.693898	0	0
ANKRD42	338699	broad.mit.edu	37	11	82917156	82917156	+	Silent	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:82917156T>C	ENST00000393389.3	+	3	1211	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ANKRD42_ENST00000531895.1_Silent_p.G93G|ANKRD42_ENST00000526731.1_Silent_p.G93G|ANKRD42_ENST00000533342.1_Silent_p.G93G|ANKRD42_ENST00000393392.2_Silent_p.G65G|ANKRD42_ENST00000260047.6_Silent_p.G93G|ANKRD42_ENST00000528722.1_5'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	65										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAACGAGAGGTTGGACAGCAT	0.378000													44	79					0	0	0.870114	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:37677213G>A	ENST00000532828.2	-	5	1477	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000													28	67					0	0	0.750413	0	0
TLN1	7094	broad.mit.edu	37	9	35719779	35719779	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:35719779G>A	ENST00000314888.9	-	14	1889	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	TLN1_ENST00000540444.1_Silent_p.T512T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	512					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCATCCAGGGTGGCCTGGG	0.572000													3	6					0	0	0.150653	0	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:248458257G>A	ENST00000317996.1	-	1	623	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000													27	59					0	0	0.729181	0	0
ZNF208	7757	broad.mit.edu	37	19	22155020	22155020	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22155020T>G	ENST00000397126.4	-	4	2964	c.2816A>C	c.(2815-2817)cAt>cCt	p.H939P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTCCAGCATGAGTTTTCTT	0.373000													15	22					0	0	0.520397	0	0
XIRP1	165904	broad.mit.edu	37	3	39230094	39230094	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:39230094G>A	ENST00000340369.3	-	2	1071	c.843C>T	c.(841-843)atC>atT	p.I281I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I281I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	281							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTCCTGGTTGATGGCGTCCA	0.657000													13	30					0	0	0.435327	0	0
UNC79	57578	broad.mit.edu	37	14	94173165	94173165	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94173165G>A	ENST00000553484.1	+	51	8043	c.7889G>A	c.(7888-7890)cGa>cAa	p.R2630Q	UNC79_ENST00000555664.1_Missense_Mutation_p.R2569Q|UNC79_ENST00000393151.2_Missense_Mutation_p.R2608Q|UNC79_ENST00000256339.4_Missense_Mutation_p.R2431Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2608						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGCCCTCCGAAAGTGGTTG	0.592000													25	57					0	0	0.693898	0	0
MMP7	4316	broad.mit.edu	37	11	102395778	102395778	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:102395778G>A	ENST00000260227.4	-	4	554	c.502C>T	c.(502-504)Cca>Tca	p.P168S		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CCATCAAATGGGTAGGAGTCC	0.458000													17	47					0	0	0.557998	0	0
CDH20	28316	broad.mit.edu	37	18	59167683	59167683	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:59167683G>A	ENST00000262717.4	+	4	1007	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CDH20_ENST00000538374.1_Silent_p.V203V|CDH20_ENST00000536675.2_Silent_p.V203V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCCAGGGTGGTGTACAGCA	0.488000													51	103					0	0	0.870114	0	0
PDE6B	5158	broad.mit.edu	37	4	619608	619608	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:619608G>A	ENST00000255622.6	+	1	236	c.193G>A	c.(193-195)Gat>Aat	p.D65N	PDE6B_ENST00000496514.1_Missense_Mutation_p.D65N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	65					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCTGGTGCAGGATATGCAGGA	0.682000													14	26					0	0	0.457914	0	0
FAM71D	161142	broad.mit.edu	37	14	67665012	67665012	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:67665012C>T	ENST00000556046.1	+	3	358	c.134C>T	c.(133-135)cCc>cTc	p.P45L				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	45										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GTATCTCCTCCCATGTTAGAG	0.398000													38	96					0	0	0.870114	0	0
HYDIN	54768	broad.mit.edu	37	16	70995892	70995892	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:70995892C>T	ENST00000393567.2	-	38	6088	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1980	Poly-Glu.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCTTTCCTCATCCTCCTCT	0.458000													19	58					0	0	0.750413	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_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				52	67					0	0	0.870114	0	0
SMYD2	56950	broad.mit.edu	37	1	214503535	214503535	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:214503535C>T	ENST00000415093.2	+	8	752	c.730C>T	c.(730-732)Ctg>Ttg	p.244_244insL	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000366957.5_Silent_p.L244L			Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	0	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TATTGATCTCCTGTACCCAAC	0.433000													6	37					0	0	0.278610	0	0
WDR19	57728	broad.mit.edu	37	4	39196180	39196180	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:39196180C>T	ENST00000399820.3	+	5	461	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	WDR19_ENST00000288634.7_Intron|WDR19_ENST00000506503.1_Missense_Mutation_p.L103F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	103					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATGTCTTTCCTTCTTTGGTC	0.333000													6	17					0	0	0.307466	0	0
SLX4IP	128710	broad.mit.edu	37	20	10582441	10582441	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:10582441C>T	ENST00000334534.5	+	6	559	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		CAGTCGTGATCTTTTAGCAAG	0.323000													21	50					0	0	0.740014	0	0
TTN	7273	broad.mit.edu	37	2	179440332	179440332	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179440332C>T	ENST00000589042.1	-	326	70751	c.70527G>A	c.(70525-70527)gtG>gtA	p.V23509V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V14569V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.V21868V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V20941V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.V14444V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.V14636V|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21868	Ig-like 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTGCCATCACTCTGAAGA	0.443000													63	54					0	0	0.870114	0	0
PTPN9	5780	broad.mit.edu	37	15	75761126	75761126	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:75761126G>A	ENST00000306726.2	-	13	2278	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	589						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTCCACGGCCAGCAGGTT	0.532000													85	130					0	0	0.870114	0	0
N4BP2	55728	broad.mit.edu	37	4	40133427	40133427	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:40133427G>A	ENST00000261435.6	+	13	4950	c.4534G>A	c.(4534-4536)Gag>Aag	p.E1512K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1512						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGAAAAGGGAGACCCTTAT	0.333000													13	30					0	0	0.457914	0	0
PLCH2	9651	broad.mit.edu	37	1	2422699	2422699	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:2422699G>A	ENST00000449969.1	+	11	1664	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	PLCH2_ENST00000378486.3_Silent_p.S528S|PLCH2_ENST00000378488.3_Silent_p.S528S|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.S528S|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	528					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCAAAGAGTCGAAGATTCGGG	0.547000													26	31					0	0	0.681144	0	0
FBXL13	222235	broad.mit.edu	37	7	102524679	102524679	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:102524679C>T	ENST00000393772.2	-	12	1515	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	FBXL13_ENST00000379305.3_Silent_p.L363L|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Silent_p.L363L|FBXL13_ENST00000455112.2_Silent_p.L363L|FBXL13_ENST00000379308.3_Silent_p.L363L|FBXL13_ENST00000313221.4_Silent_p.L363L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	363										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AGTTGTCCGTCAGAGTTGGCA	0.373000													64	256					0	0	0.870114	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618064	111618064	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:111618064G>A	ENST00000374667.3	-	1	1175	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	49						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGACCGCCTTGATCTTGTGCA	0.642000													57	106					0	0	0.870114	0	0
NELL2	4753	broad.mit.edu	37	12	45059292	45059292	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:45059292G>A	ENST00000429094.2	-	13	1923	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	NELL2_ENST00000452445.2_Silent_p.I473I|NELL2_ENST00000437801.2_Silent_p.I523I|NELL2_ENST00000551601.1_Silent_p.I472I|NELL2_ENST00000395487.2_Silent_p.I472I|NELL2_ENST00000333837.4_Silent_p.I496I|NELL2_ENST00000549027.1_Silent_p.I472I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	473	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATCAATTCTGATGTATCCAG	0.353000													19	34					0	0	0.557998	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960839	73960839	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:73960839C>A	ENST00000373468.1	-	3	4204	c.3553G>T	c.(3553-3555)Ggg>Tgg	p.G1185W	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1185W			Q5QGS0	K2022_HUMAN	KIAA2022	1185					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCATAGCCCCACTCTTGCTG	0.408000													34	66					1.84765e-07	1.86786e-07	0.788014	1	0
PRSS53	339105	broad.mit.edu	37	16	31098164	31098164	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:31098164C>T	ENST00000280606.6	-	4	451	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	100	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CTGAGTCCCTCACGCTGCAGA	0.627000													25	47					0	0	0.717897	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518063	84518063	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:84518063G>A	ENST00000331369.5	+	0	257																											ACTCTCAGCCGAAAAGTATAG	0.498000													13	76					0	0	0.435327	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000													15	37					0	0	0.575678	0	0
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								4	161					0	0	0.184627	0	0
COL11A1	1301	broad.mit.edu	37	1	103388915	103388915	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:103388915C>T	ENST00000358392.2	-	47	3984	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	COL11A1_ENST00000370096.3_Missense_Mutation_p.E1211K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1095K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1172K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1211	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCCATTTTCACCTTTTTCA	0.343000													4	25					0	0	0.184627	0	0
AGBL1	123624	broad.mit.edu	37	15	86940619	86940619	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:86940619C>T	ENST00000441037.2	+	17	2354	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	AGBL1_ENST00000421325.2_Silent_p.I753I|AGBL1_ENST00000389298.3_Silent_p.I484I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	753					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCAGGTGATCACTGCTCGAG	0.428000													29	28					0	0	0.750413	0	0
DMD	1756	broad.mit.edu	37	X	32429938	32429938	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:32429938G>A	ENST00000357033.4	-	30	4370	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F	DMD_ENST00000378677.2_Silent_p.F1384F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1388			F -> V (in dbSNP:rs28715870).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTGTCAATGAATGTGAGGG	0.473000													33	42					0	0	0.779181	0	0
CADM3	57863	broad.mit.edu	37	1	159163792	159163792	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:159163792G>A	ENST00000368125.4	+	5	810	c.653G>A	c.(652-654)gGa>gAa	p.G218E	CADM3_ENST00000368124.4_Missense_Mutation_p.G252E	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	218	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCTCTAAAGGGAGCTGACAGA	0.502000													25	68					0	0	0.706142	0	0
OR51A7	119687	broad.mit.edu	37	11	4928619	4928619	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4928619C>T	ENST00000359350.4	+	1	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAATAACTCCGAAGTCAAG	0.438000													6	36					0	0	0.307466	0	0
EP400NL	347918	broad.mit.edu	37	12	132593196	132593196	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:132593196C>T	ENST00000376625.4	+	2	1390	c.1364C>T	c.(1363-1365)gCg>gTg	p.A455V	EP400NL_ENST00000443539.2_Missense_Mutation_p.A323V|EP400NL_ENST00000389560.2_Missense_Mutation_p.A386V|EP400NL_ENST00000392352.1_Missense_Mutation_p.A323V|EP400NL_ENST00000361109.5_Missense_Mutation_p.A302V					EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AGGACTTCTGCGGCTTTTCCA	0.572000													4	2					0	0	0.184627	0	0
C1QC	714	broad.mit.edu	37	1	22974088	22974088	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:22974088C>T	ENST00000374639.3	+	3	668	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	C1QC_ENST00000374637.1_Missense_Mutation_p.R184C|C1QC_ENST00000374640.4_Missense_Mutation_p.R184C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	184	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGCTGTACCGCAGCGGCGT	0.582000													35	86					0	0	0.812448	0	0
GPR137	56834	broad.mit.edu	37	11	64056655	64056655	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64056655C>T	ENST00000438980.2	+	7	1285	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	GPR137_ENST00000377702.4_Missense_Mutation_p.T343I|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P358S|GPR137_ENST00000411458.1_Missense_Mutation_p.P416S	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	0						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTACTCCACCCCACAGACG	0.652000													38	78					0	0	0.864702	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:125834288C>T	ENST00000299308.3	+	2	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	115						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACAAATTTCCCTTCAACTG	0.468000													63	79					0	0	0.870114	0	0
ZNF267	10308	broad.mit.edu	37	16	31926242	31926242	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:31926242C>T	ENST00000300870.10	+	4	881	c.672C>T	c.(670-672)acC>acT	p.T224T	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	224					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTGAAAAAACCTTGAACCAAA	0.299000													4	13					0	0	0.150653	0	0
FLG2	388698	broad.mit.edu	37	1	152326000	152326000	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:152326000C>T	ENST00000388718.5	-	3	4334	c.4262G>A	c.(4261-4263)gGa>gAa	p.G1421E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1421							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)			ATGGCCAGATCCCCTTCTTCC	0.527000													109	249					0	0	0.870114	0	0
KDM3B	51780	broad.mit.edu	37	5	137756404	137756404	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:137756404C>T	ENST00000314358.5	+	15	3925	c.3725C>T	c.(3724-3726)tCc>tTc	p.S1242F	KDM3B_ENST00000542866.1_Missense_Mutation_p.S274F|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.S898F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAAGCAGGGTCCCTGAGGTCG	0.463000													30	82					0	0	0.769981	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243542101	243542101	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:243542101A>G	ENST00000366541.3	+	13	1670	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R373G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R475G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	518	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGCCCTGGCCAGAGAGGAGTG	0.498000													23	84					0	0	0.667858	0	0
RPUSD4	84881	broad.mit.edu	37	11	126073526	126073526	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:126073526C>T	ENST00000298317.4	-	7	974	c.921G>A	c.(919-921)aaG>aaA	p.K307K	RPUSD4_ENST00000533628.1_Silent_p.K276K	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	307					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTAGCCCCAGCTTCTTCAGGG	0.587000													9	35					0	0	0.361761	0	0
IL11	3589	broad.mit.edu	37	19	55877462	55877462	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55877462G>A	ENST00000264563.2	-	5	575	c.513C>T	c.(511-513)atC>atT	p.I171I	IL11_ENST00000585513.1_Silent_p.I171I|IL11_ENST00000590625.1_Silent_p.I92I	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	171					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	GGGCGGCCCTGATGCCCCCCC	0.741000													3	9					0	0	0.115264	0	0
EPHA4	2043	broad.mit.edu	37	2	222307568	222307568	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:222307568C>T	ENST00000281821.2	-	11	2096	c.2055G>A	c.(2053-2055)ttG>ttA	p.L685L	EPHA4_ENST00000409854.1_Silent_p.L685L|EPHA4_ENST00000409938.1_Silent_p.L685L|EPHA4_ENST00000392071.4_Silent_p.L634L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCACGCCTTCCAAGTGAATGA	0.453000													45	49					0	0	0.870114	0	0
DGKG	1608	broad.mit.edu	37	3	186006599	186006599	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:186006599G>A	ENST00000265022.3	-	6	983	c.444C>T	c.(442-444)gtC>gtT	p.V148V	DGKG_ENST00000544847.1_Silent_p.V148V|DGKG_ENST00000382164.4_Silent_p.V148V|DGKG_ENST00000344484.4_Silent_p.V148V	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	148					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AAGACCGAGGGACGGGGGGTT	0.552000													108	224					0	0	0.870114	0	0
MED12	9968	broad.mit.edu	37	X	70348501	70348501	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:70348501C>T	ENST00000333646.6	+	24	3607	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	MED12_ENST00000374080.3_Silent_p.I1136I|MED12_ENST00000374102.1_Silent_p.I1136I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1136					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCATCCTCATCGCTCGGCAGT	0.498000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0.387290	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581584	140581584	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140581584C>T	ENST00000354757.3	+	1	2237	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S381F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		746					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACCCTTTCCCAGAGCTAC	0.577000													70	176					0	0	0.870114	0	0
LTBP3	4054	broad.mit.edu	37	11	65315017	65315017	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:65315017G>A	ENST00000301873.5	-	14	2268	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	LTBP3_ENST00000532932.1_Missense_Mutation_p.P97L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P293L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P667L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	667	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACAGGTGGGGCTTGGCGCA	0.657000													12	69					0	0	0.479597	0	0
INTS1	26173	broad.mit.edu	37	7	1524809	1524809	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:1524809G>A	ENST00000389470.4	-	25	3671	c.3672C>T	c.(3670-3672)acC>acT	p.T1224T	INTS1_ENST00000404767.3_Silent_p.T1062T			Q8N201	INT1_HUMAN	integrator complex subunit 1	1062					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGCTGATGGTCTGGGGAT	0.662000													32	32					0	0	0.840704	0	0
CPNE6	9362	broad.mit.edu	37	14	24544723	24544723	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:24544723G>A	ENST00000397016.2	+	10	1098	c.787G>A	c.(787-789)Gac>Aac	p.D263N	CPNE6_ENST00000537691.1_Missense_Mutation_p.D318N|CPNE6_ENST00000216775.2_Missense_Mutation_p.D263N			O95741	CPNE6_HUMAN	copine VI (neuronal)	263					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GATGCAGTGGGACTGTATCAA	0.542000													7	8					0	0	0.278610	0	0
ASH1L	55870	broad.mit.edu	37	1	155348153	155348153	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:155348153G>A	ENST00000368346.3	-	10	6905	c.6266C>T	c.(6265-6267)tCt>tTt	p.S2089F	ASH1L_ENST00000392403.3_Missense_Mutation_p.S2084F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2089					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGTAACCAGAAAGGGGTTT	0.408000													44	120					0	0	0.870114	0	0
SNX33	257364	broad.mit.edu	37	15	75941533	75941533	+	Silent	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:75941533T>C	ENST00000308527.5	+	1	1287	c.90T>C	c.(88-90)ttT>ttC	p.F30F		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	30	SH3.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGGTCATCTTTAGCGAGACCT	0.567000													65	134					0	0	0.870114	0	0
VAT1L	57687	broad.mit.edu	37	16	77850940	77850940	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77850940G>A	ENST00000302536.2	+	2	509	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	119							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGCGTGAAAGGATATGAGGTA	0.428000													49	138					0	0	0.870114	0	0
MYLK2	85366	broad.mit.edu	37	20	30412093	30412093	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:30412093G>A	ENST00000375994.2	+	5	1183	c.910G>A	c.(910-912)Gag>Aag	p.E304K	MYLK2_ENST00000375985.4_Missense_Mutation_p.E304K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	304	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTGCATGGAGAAAGCCAC	0.582000													7	40					0	0	0.335167	0	0
ITGB4	3691	broad.mit.edu	37	17	73728265	73728265	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:73728265C>G	ENST00000200181.3	+	12	1586	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	ITGB4_ENST00000579662.1_Missense_Mutation_p.R467G|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467G|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	467	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGTCAGCTCGCTGCAGCTT	0.637000													74	33					0	0	0.870114	0	0
SUSD2	56241	broad.mit.edu	37	22	24583635	24583635	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:24583635C>T	ENST00000358321.3	+	12	2249	c.1988C>T	c.(1987-1989)cCc>cTc	p.P663L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	663	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCTTCGAGCCCCTCTTCCCC	0.582000													34	82					0	0	0.812448	0	0
ANK3	288	broad.mit.edu	37	10	61832907	61832907	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:61832907C>T	ENST00000280772.1	-	37	7923	c.7732G>A	c.(7732-7734)Gac>Aac	p.D2578N	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2578					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAGTCCTGTCCACCCTATCT	0.423000													3	68					0	0	0.150653	0	0
CARD11	84433	broad.mit.edu	37	7	2976769	2976769	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:2976769C>T	ENST00000396946.4	-	9	1646	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	415					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCATCTCGTCGTTCTTCTCC	0.577000			Mis		DLBCL								26	78					0	0	0.750413	0	0
SHROOM2	357	broad.mit.edu	37	X	9862847	9862847	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:9862847C>T	ENST00000380913.3	+	4	989	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	300					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AATTTTGGGCCAGTCTGGTAT	0.622000													12	39					0	0	0.457914	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	G	A	rs34553661		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:55782888G>A	ENST00000373965.2	-	20	2705	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	764	Cadherin 7.				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)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)			18	24					0	0	0.575678	0	0
TPK1	27010	broad.mit.edu	37	7	144288542	144288542	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:144288542C>T	ENST00000549981.1	-	9	847	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.E159K|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	159					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGCGATTCCTCTTGGATT	0.433000													43	154					0	0	0.870114	0	0
KRT6B	3854	broad.mit.edu	37	12	52845694	52845694	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:52845694C>T	ENST00000252252.3	-	1	216	c.169G>A	c.(169-171)Ggc>Agc	p.G57S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	57	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCGGCTGCCAAAGCCAGCT	0.672000													30	140					0	0	0.788014	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036666	13036666	+	Silent	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:13036666T>C	ENST00000376187.1	+	2	738	c.738T>C	c.(736-738)cgT>cgC	p.R246R	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	246										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						ATGGCTGTCGTTACCTGCTAA	0.473000													30	136					0	0	0.804634	0	0
TMC5	79838	broad.mit.edu	37	16	19474686	19474686	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:19474686C>T	ENST00000396229.2	+	7	1982	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TMC5_ENST00000564959.1_Silent_p.S94S|TMC5_ENST00000561503.1_Silent_p.S52S|TMC5_ENST00000542583.2_Silent_p.S411S|TMC5_ENST00000541464.1_Silent_p.S411S|TMC5_ENST00000381414.4_Silent_p.S411S|TMC5_ENST00000219821.5_Silent_p.S165S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	411						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCCATTTCCCGGGTAAGTC	0.458000													31	88					0	0	0.796494	0	0
RHPN1	114822	broad.mit.edu	37	8	144462028	144462028	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:144462028G>A	ENST00000289013.6	+	9	1076	c.975G>A	c.(973-975)cgG>cgA	p.R325R		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	325	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TAGTGCACCGGACCATGGCCC	0.667000													12	13					0	0	0.457914	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439781	145439781	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:145439781C>T	ENST00000511217.1	+	8	1960	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.I636I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	636							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATGGCATCGAAAAGGTAG	0.483000													35	55					0	0	0.870114	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187651	6187651	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:6187651G>A	ENST00000588304.1	+	13	2018	c.1572G>A	c.(1570-1572)ctG>ctA	p.L524L	ACSBG2_ENST00000252669.5_Silent_p.L574L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Silent_p.L387L|ACSBG2_ENST00000586696.1_Silent_p.L574L|ACSBG2_ENST00000591403.1_Silent_p.L574L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	574					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGACAAGCTGAACTTCGAGG	0.592000													11	38					0	0	0.387290	0	0
ALPK3	57538	broad.mit.edu	37	15	85403135	85403135	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:85403135G>A	ENST00000258888.5	+	8	4866		c.e8+1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCCTGAGGGTGAGTGTGCC	0.657000													50	110					0	0	0.870114	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122313	46122313	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:46122313C>A	ENST00000374366.3	-	8	1201	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000344646.5_Missense_Mutation_p.D320Y|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	320							zinc ion binding										CAGCTATTATCTTCCTTAAGA	0.433000													30	28					5.45727e-16	5.56917e-16	0.729181	1	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:123593796G>A	ENST00000340011.5	+	3	529	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E58K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448000													27	31					0	0	0.740014	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432855	110432855	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:110432855C>T	ENST00000378402.5	+	23	2737	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	878					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCAATATTCTGTTACCATG	0.368000										HNSCC(38;0.096)			36	88					0	0	0.847076	0	0
CD163	9332	broad.mit.edu	37	12	7654007	7654007	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:7654007C>T	ENST00000359156.4	-	3	387	c.185G>A	c.(184-186)gGg>gAg	p.G62E	CD163_ENST00000541972.1_Missense_Mutation_p.G50E|CD163_ENST00000396620.3_Missense_Mutation_p.G62E|CD163_ENST00000432237.2_Missense_Mutation_p.G62E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	62	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCACTCTCCCGCTACACTT	0.502000													36	138					0	0	0.870114	0	0
FAM65C	140876	broad.mit.edu	37	20	49236604	49236604	+	Missense_Mutation	SNP	G	G	A	rs145939916		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:49236604G>A	ENST00000327979.2	-	3	587	c.176C>T	c.(175-177)aCg>aTg	p.T59M	FAM65C_ENST00000535356.1_Missense_Mutation_p.T63M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T59M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	59										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCCGCAGCGTGCCGTACAT	0.547000													24	100					0	0	0.717897	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171124	150171124	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:150171124C>T	ENST00000307271.3	+	4	1281	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	236						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGCTGCAGTCCACAGGACCC	0.532000													48	145					0	0	0.870114	0	0
EPHA4	2043	broad.mit.edu	37	2	222307631	222307631	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:222307631C>T	ENST00000281821.2	-	11	2033	c.1992G>A	c.(1990-1992)agG>agA	p.R664R	EPHA4_ENST00000409854.1_Silent_p.R664R|EPHA4_ENST00000409938.1_Silent_p.R664R|EPHA4_ENST00000392071.4_Silent_p.R613R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	664	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R664S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGAAGTCTCTCCTCTGTTTGT	0.498000													55	47					0	0	0.870114	0	0
PRSS35	167681	broad.mit.edu	37	6	84234310	84234310	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:84234310G>A	ENST00000536636.1	+	3	1495	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	PRSS35_ENST00000369700.3_Missense_Mutation_p.D384N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	384	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTTCAGAAGGACTACAACGT	0.502000													10	31					0	0	0.387290	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826725	25826725	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:25826725G>A	ENST00000244527.4	-	3	286	c.171C>T	c.(169-171)ccC>ccT	p.P57P	SLC17A1_ENST00000476801.1_Silent_p.P57P|SLC17A1_ENST00000468082.1_Silent_p.P57P|SLC17A1_ENST00000427328.1_Silent_p.P57P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGGAGGTGTTGGGCAAACCAT	0.408000													59	134					0	0	0.870114	0	0
CACNA1E	777	broad.mit.edu	37	1	181741281	181741281	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:181741281C>T	ENST00000526775.1	+	36	5161	c.4996C>T	c.(4996-4998)Cca>Tca	p.P1666S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1685S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1617S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1685S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1292S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1636S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1666S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1685					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						CACCACCGCACCATCAGGGCA	0.552000													61	111					0	0	0.870114	0	0
CDH23	64072	broad.mit.edu	37	10	73550072	73550072	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:73550072C>T	ENST00000224721.6	+	45	5971	c.5966C>T	c.(5965-5967)cCc>cTc	p.P1989L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1984	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAATGGGCCCATCCTGGCC	0.647000													12	24					0	0	0.411799	0	0
USH1G	124590	broad.mit.edu	37	17	72915642	72915642	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:72915642C>T	ENST00000319642.1	-	2	1471	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	430	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGTGGGACGCTGATGCTGCG	0.662000													20	28					0	0	0.608945	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827575	14827575	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:14827575C>T	ENST00000261170.3	-	8	1204	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	356					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGTGAGATTCCTGAAAGCAT	0.393000													87	94					0	0	0.870114	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94918016	94918016	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:94918016G>A	ENST00000289495.5	+	17	3880	c.3664G>A	c.(3664-3666)Gga>Aga	p.G1222R	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G1024R|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G1024R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1300R|PPP1R9A_ENST00000424654.1_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1024						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGTTGGATGGAAATAAACT	0.373000										HNSCC(28;0.073)			23	114					0	0	0.639603	0	0
TANGO6	79613	broad.mit.edu	37	16	68961870	68961870	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:68961870C>T	ENST00000261778.1	+	13	2539	c.2527C>T	c.(2527-2529)Ctt>Ttt	p.L843F	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CCAAGAGGTTCTTTTGTCAGC	0.488000													10	10					0	0	0.435327	0	0
RIMS2	9699	broad.mit.edu	37	8	104709408	104709408	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:104709408A>G	ENST00000406091.3	+	2	271	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	122	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGCGCCAACCTGTGGTAT	0.448000										HNSCC(12;0.0054)			12	67					0	0	0.457914	0	0
MROH2B	133558	broad.mit.edu	37	5	41000422	41000422	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41000422G>A	ENST00000399564.4	-	39	4832	c.4382C>T	c.(4381-4383)cCc>cTc	p.P1461L	MROH2B_ENST00000506092.2_Missense_Mutation_p.P1016L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCCCAAAAAGGGAATGCAGAC	0.483000													9	22					0	0	0.335167	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826726	25826726	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:25826726G>A	ENST00000244527.4	-	3	285	c.170C>T	c.(169-171)cCc>cTc	p.P57L	SLC17A1_ENST00000476801.1_Missense_Mutation_p.P57L|SLC17A1_ENST00000468082.1_Missense_Mutation_p.P57L|SLC17A1_ENST00000427328.1_Missense_Mutation_p.P57L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	57					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGAGGTGTTGGGCAAACCATG	0.408000													59	134					0	0	0.870114	0	0
NARG2	79664	broad.mit.edu	37	15	60728370	60728370	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:60728370C>T	ENST00000261520.4	-	13	2716	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	NARG2_ENST00000439632.1_Missense_Mutation_p.E691K	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	828						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTTTAATTCTTCTGAGGTA	0.274000													8	20					0	0	0.387290	0	0
MRPS34	65993	broad.mit.edu	37	16	1822442	1822442	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:1822442T>A	ENST00000177742.3	-	3	488	c.458A>T	c.(457-459)gAg>gTg	p.E153V	MRPS34_ENST00000397375.2_Missense_Mutation_p.E146V			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	146						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GGCCTCCTCCTCGTGCTTGGG	0.627000													36	114					0	0	0.827153	0	0
ZNF616	90317	broad.mit.edu	37	19	52627300	52627300	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:52627300C>T	ENST00000600228.1	-	3	276	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ZNF616_ENST00000596290.1_Silent_p.G5G|ZNF616_ENST00000597013.1_Silent_p.G5G|ZNF616_ENST00000330123.5_Silent_p.G5G	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATGTCAAATGCCCCTGAAATG	0.403000													44	75					0	0	0.870114	0	0
GLCE	26035	broad.mit.edu	37	15	69548365	69548365	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:69548365G>A	ENST00000261858.2	+	3	448	c.220G>A	c.(220-222)Gag>Aag	p.E74K	GLCE_ENST00000559420.2_Missense_Mutation_p.E10K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	74					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACAACAGTCTGAGGAAGCATT	0.473000													29	92					0	0	0.779181	0	0
DMD	1756	broad.mit.edu	37	X	31747853	31747853	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:31747853C>T	ENST00000357033.4	-	52	7761	c.7555G>A	c.(7555-7557)Gat>Aat	p.D2519N	DMD_ENST00000359836.1_Missense_Mutation_p.D59N|DMD_ENST00000474231.1_Missense_Mutation_p.D59N|DMD_ENST00000343523.2_Missense_Mutation_p.D59N|DMD_ENST00000378677.2_Missense_Mutation_p.D2515N|DMD_ENST00000541735.1_Missense_Mutation_p.D59N|DMD_ENST00000378707.3_Missense_Mutation_p.D59N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2519					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTTCCAAATCCTGCATTGTT	0.403000													22	85					0	0	0.717897	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256303	140256303	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140256303G>A	ENST00000398631.2	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.612000													110	279					0	0	0.870114	0	0
AGTR2	186	broad.mit.edu	37	X	115304558	115304558	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:115304558G>A	ENST00000371906.4	+	3	1215	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	342					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGGCTCCAAGGGAAAAGAGAG	0.438000													34	69					0	0	0.796494	0	0
TLE4	7091	broad.mit.edu	37	9	82267548	82267548	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:82267548T>G	ENST00000376520.4	+	7	1259	c.431T>G	c.(430-432)cTc>cGc	p.L144R	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L119R|TLE4_ENST00000376544.3_Missense_Mutation_p.L144R|TLE4_ENST00000376552.2_Missense_Mutation_p.L144R|TLE4_ENST00000376537.4_Missense_Mutation_p.L144R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGACATGGTCTCCCCGTACCT	0.552000													51	133					0	0	0.870114	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104685	87104685	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:87104685G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							AGACTGCCAAGGAATCCATTG	0.408000													25	68					0	0	0.750413	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197177	89197177	+	RNA	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:89197177C>T	ENST00000390244.2	+	0	285																											CTACTACTCTCGTTCCTGGAA	0.423000													13	115					0	0	0.435327	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965151	42965151	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:42965151G>A	ENST00000399770.2	+	2	627	c.627_splice	c.e2+1	p.G209_splice		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	209	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATTACCTTGGGGTAAGTAAGC	0.448000													121	244					0	0	0.870114	0	0
OR14I1	401994	broad.mit.edu	37	1	248844738	248844738	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:248844738G>A	ENST00000342623.3	-	1	891	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTATTCCTAAGACTATATATG	0.388000													22	60					0	0	0.681144	0	0
IGHG3	3502	broad.mit.edu	37	14	106236037	106236037	+	RNA	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:106236037T>A	ENST00000390551.2	-	0	766																											CTGGGAGGGCTTTGTTGGAGA	0.592000													116	290					0	0	0.870114	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735521	140735521	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140735521C>T	ENST00000571252.1	+	1	754	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAGTGTTCGTGAGAACGT	0.507000													10	25					0	0	0.435327	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873382	26873382	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:26873382T>C	ENST00000374168.2	+	3	287	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S29P|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S45P|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S54P	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	45					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAAGGAGATCTCCATCACGCA	0.597000													15	25					0	0	0.575678	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													12	32					0	0	0.411799	0	0
CRTAC1	55118	broad.mit.edu	37	10	99664443	99664443	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:99664443C>T	ENST00000370597.3	-	7	1334	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G327R|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G327R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	327						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGGACCTTCCCATGGGTGCTC	0.537000													36	42					0	0	0.796494	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212729	134212729	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:134212729G>A	ENST00000535456.2	+	2	356	c.168G>A	c.(166-168)ctG>ctA	p.L56L	GLB1L2_ENST00000339772.7_Silent_p.L56L|GLB1L2_ENST00000389881.3_Silent_p.L56L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	56					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACTTCATGCTGGAGGATTCCA	0.602000													11	68					0	0	0.361761	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131364	66131364	+	RNA	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:66131364C>T	ENST00000590019.1	-	0	298																											TCCAGGGAGTCCTTCACCTCT	0.572000													11	6					0	0	0.479597	0	0
DDX50	79009	broad.mit.edu	37	10	70695789	70695789	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:70695789C>T	ENST00000373585.3	+	11	1656	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	517	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGTAGGTGTTCCTTCTACAAT	0.289000													19	23					0	0	0.608945	0	0
OR5L1	219437	broad.mit.edu	37	11	55579489	55579489	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55579489C>T	ENST00000333973.2	+	1	636	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGATCTACCTCCTGTCTTAAG	0.433000													37	193					0	0	0.827153	0	0
SPEN	23013	broad.mit.edu	37	1	16257505	16257505	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16257505C>T	ENST00000375759.3	+	11	4974	c.4770C>T	c.(4768-4770)ctC>ctT	p.L1590L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1590					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTATGGAGCTCACACGGATGC	0.443000													13	24					0	0	0.435327	0	0
TRAV27	28655	broad.mit.edu	37	14	22616536	22616536	+	RNA	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:22616536C>T	ENST00000390457.2	+	0	374																											CAGTTCTCTCCACATCACTGC	0.547000													16	59					0	0	0.608945	0	0
ABCB5	340273	broad.mit.edu	37	7	20778686	20778686	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:20778686C>T	ENST00000404938.2	+	24	3600	c.2948C>T	c.(2947-2949)tCg>tTg	p.S983L	ABCB5_ENST00000258738.6_Missense_Mutation_p.S538L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	538					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAGCCAAATCGGGGGCTGCG	0.423000													11	38					0	0	0.457914	0	0
CETN2	1069	broad.mit.edu	37	X	151997732	151997732	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:151997732C>T	ENST00000370277.3	-	3	318	c.252G>A	c.(250-252)atG>atA	p.M84I	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	84	EF-hand 2.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAAGTTCATTTTTCCTG	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					27	90					0	0	0.760397	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602625	64602625	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64602625G>A	ENST00000342711.5	-	17	1953	c.1953_splice	c.e17-1	p.L652_splice		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	652					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCTGCTTCTAGCTGGGGCCGG	0.687000													10	20					0	0	0.411799	0	0
LRRC7	57554	broad.mit.edu	37	1	70494040	70494040	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:70494040G>A	ENST00000310961.5	+	19	2300	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E623K|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCAAAGGAGATTACAGT	0.393000													13	26					0	0	0.500413	0	0
CASR	846	broad.mit.edu	37	3	122003352	122003352	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:122003352T>G	ENST00000498619.1	+	7	3019	c.2581T>G	c.(2581-2583)Tgc>Ggc	p.C861G	CASR_ENST00000296154.5_Missense_Mutation_p.C851G|CASR_ENST00000490131.1_Missense_Mutation_p.C851G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	851					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTGCTGGCGTGCATCTTCTT	0.542000													19	35					0	0	0.608945	0	0
MYO7A	4647	broad.mit.edu	37	11	76893570	76893570	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:76893570G>A	ENST00000409709.3	+	25	3482	c.3210G>A	c.(3208-3210)gtG>gtA	p.V1070V	MYO7A_ENST00000458637.2_Silent_p.V1070V|MYO7A_ENST00000409893.1_Silent_p.V1070V|MYO7A_ENST00000409619.2_Silent_p.V1059V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1070	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATCCCTGTGATGACCAAGA	0.602000													14	31					0	0	0.520397	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141459	63141459	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:63141459C>T	ENST00000279178.3	+	4	1004	c.755C>T	c.(754-756)gCt>gTt	p.A252V	SLC22A9_ENST00000310969.4_Silent_p.G200G	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	252					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GCAGGCCTGGCTTTTGCCATT	0.483000													4	28					0	0	0.217242	0	0
LDLR	3949	broad.mit.edu	37	19	11224428	11224428	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:11224428C>T	ENST00000558518.1	+	10	1763	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	LDLR_ENST00000455727.2_Missense_Mutation_p.P358S|LDLR_ENST00000557933.1_Missense_Mutation_p.P526S|LDLR_ENST00000535915.1_Missense_Mutation_p.P485S|LDLR_ENST00000545707.1_Missense_Mutation_p.P399S|LDLR_ENST00000558013.1_Missense_Mutation_p.P526S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	526			P -> S (in Cincinnati-3).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.P526S(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGGTGGATCCTGTTCATGG	0.582000													23	40					0	0	0.681144	0	0
EFHC2	80258	broad.mit.edu	37	X	44037711	44037711	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:44037711C>T	ENST00000420999.1	-	12	1934	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	617							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAGAAATCCATATCTGAAC	0.398000													10	12					0	0	0.361761	0	0
LNX1	84708	broad.mit.edu	37	4	54373514	54373514	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:54373514C>T	ENST00000306888.2	-	3	708	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.E249K|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	249						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCAGAATTTTCCCTGCCCTGG	0.488000													24	83					0	0	0.706142	0	0
WSCD2	9671	broad.mit.edu	37	12	108589650	108589650	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:108589650G>A	ENST00000332082.4	+	3	859	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	WSCD2_ENST00000547525.1_Missense_Mutation_p.R14Q|WSCD2_ENST00000261400.3_Missense_Mutation_p.R14Q|WSCD2_ENST00000549903.1_Missense_Mutation_p.R14Q			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	14						integral to membrane		p.R14Q(1)|p.R14L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCCGCCGGAAACCTGTG	0.592000													42	77					0	0	0.847076	0	0
LGALS9C	654346	broad.mit.edu	37	17	18389403	18389403	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:18389403G>A	ENST00000328114.6	+	3	368	c.287G>A	c.(286-288)gGg>gAg	p.G96E	LGALS9C_ENST00000412421.2_Missense_Mutation_p.G8E|LGALS9C_ENST00000584941.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000581545.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000583322.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	96	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTCCAGAAGGGGATGCCCTTT	0.582000													34	14					0	0	0.870114	0	0
WNK3	65267	broad.mit.edu	37	X	54360030	54360030	+	Missense_Mutation	SNP	A	A	G	rs146463327		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:54360030A>G	ENST00000354646.2	-	2	515	c.77T>C	c.(76-78)gTt>gCt	p.V26A	WNK3_ENST00000375159.2_Missense_Mutation_p.V26A|WNK3_ENST00000375169.3_Missense_Mutation_p.V26A	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	26					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GACCTGGGGAACTCTGTTTTC	0.418000													23	44					0	0	0.654019	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147031	55147031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:55147031C>T	ENST00000370862.3	+	7	1450	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAAAATTTCGAGAGGAATT	0.453000													12	14					0	0	0.411799	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627853	12627853	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:12627853G>A	ENST00000380682.1	+	3	678	c.172G>A	c.(172-174)Gca>Aca	p.A58T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	58	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGACACAGGCAATCCCTTT	0.478000													14	83					0	0	0.479597	0	0
CACNA1E	777	broad.mit.edu	37	1	181762921	181762921	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:181762921G>A	ENST00000357570.5	+	45	6184	c.5872G>A	c.(5872-5874)Gat>Aat	p.D1958N	CACNA1E_ENST00000367573.2_Missense_Mutation_p.D2007N|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1988N			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2007					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						TCTGACTGTGGATCCCCAGGT	0.507000													11	24					0	0	0.457914	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529150	102529150	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:102529150C>T	ENST00000372680.1	-	3	636	c.342G>A	c.(340-342)cgG>cgA	p.R114R		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTGCTTTCCGGGGCACAT	0.582000													18	100					0	0	0.557998	0	0
ZP4	57829	broad.mit.edu	37	1	238048799	238048799	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:238048799G>A	ENST00000366570.4	-	8	1210	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	351	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGAAGGATGGAGACCTCCAC	0.532000													14	44					0	0	0.520397	0	0
PDE9A	5152	broad.mit.edu	37	21	44151974	44151974	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:44151974G>A	ENST00000291539.6	+	5	417	c.357G>A	c.(355-357)agG>agA	p.R119R	PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000328862.6_Silent_p.R93R|PDE9A_ENST00000398225.3_Silent_p.R78R|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398232.3_Silent_p.R52R	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	119					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AGCCCCGGAGGGAAGGAGCAT	0.622000													25	29					0	0	0.717897	0	0
FAM104B	90736	broad.mit.edu	37	X	55172572	55172572	+	Missense_Mutation	SNP	G	G	A	rs111573608		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:55172572G>A	ENST00000425133.2	-	3	334	c.296C>T	c.(295-297)aCc>aTc	p.T99I	FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000358460.4_Intron	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTCCTTCAAGGTCTGGTTGAT	0.448000													3	69					0	0	0.248553	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603272	138603272	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:138603272G>A	ENST00000440172.1	-	2	1148	c.1100C>T	c.(1099-1101)gCa>gTa	p.A367V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A317V|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A367V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	367						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGACGCAAATGCAAGAGGAGT	0.498000			O	BRAF	pilocytic astrocytoma								5	203					0	0	0.217242	0	0
SEPT6	23157	broad.mit.edu	37	X	118754005	118754005	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:118754005G>A	ENST00000354416.3	-	10	1554	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	SEPT6_ENST00000394610.1_3'UTR|SEPT6_ENST00000489216.1_Intron|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354228.4_Intron|SEPT6_ENST00000360156.7_Intron|SEPT6_ENST00000343984.5_Intron			Q14141	SEPT6_HUMAN	septin 6	0					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GTGTCTACAGGAAGCCCAAAC	0.433000			T	MLL	AML								5	37					0	0	0.184627	0	0
ARAP2	116984	broad.mit.edu	37	4	36162133	36162133	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:36162133C>T	ENST00000303965.4	-	13	2879	c.2390G>A	c.(2389-2391)gGa>gAa	p.G797E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	797	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTGAATTTTCCTTCTTTATA	0.299000													4	9					0	0	0.217242	0	0
UNC13C	440279	broad.mit.edu	37	15	54305220	54305220	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54305220G>A	ENST00000545554.1	+	1	120	c.120G>A	c.(118-120)aaG>aaA	p.K40K	UNC13C_ENST00000260323.11_Silent_p.K40K|UNC13C_ENST00000537900.1_Silent_p.K40K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	40					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCAGAAAAAGGATCAAGACT	0.368000													21	78					0	0	0.624587	0	0
CDC14A	8556	broad.mit.edu	37	1	100961573	100961573	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:100961573A>C	ENST00000336454.3	+	13	1621	c.1266A>C	c.(1264-1266)aaA>aaC	p.K422N	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.K422N|CDC14A_ENST00000542213.1_Missense_Mutation_p.K364N|CDC14A_ENST00000544534.1_Missense_Mutation_p.K422N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	422					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ATGATACAAAAGGACATCCAA	0.433000													35	88					0	0	0.853193	0	0
LYPD4	147719	broad.mit.edu	37	19	42342324	42342324	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:42342324C>T	ENST00000330743.3	-	4	1434	c.223G>A	c.(223-225)Gga>Aga	p.G75R	LYPD4_ENST00000343055.4_Missense_Mutation_p.G40R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G40R	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	75						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCCACAACTCCCCTTGCAGTC	0.582000													7	25					0	0	0.278610	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	23					0	0	0.812448	0	0
DNAH5	1767	broad.mit.edu	37	5	13859595	13859595	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:13859595A>C	ENST00000265104.4	-	30	5020	c.4916T>G	c.(4915-4917)tTt>tGt	p.F1639C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCCACAAAGACAGCTTC	0.443000									Kartagener syndrome				34	62					0	0	0.819951	0	0
ZNF267	10308	broad.mit.edu	37	16	31926241	31926241	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:31926241C>T	ENST00000300870.10	+	4	880	c.671C>T	c.(670-672)aCc>aTc	p.T224I	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	224					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCTGAAAAAACCTTGAACCAA	0.299000													4	14					0	0	0.150653	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916897	42916897	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:42916897C>T	ENST00000316161.4	-	1	736	c.412G>A	c.(412-414)Gat>Aat	p.D138N	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.D138N|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	138					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCATTAAGATCCTTCAAGCCA	0.517000													31	61					0	0	0.796494	0	0
STIL	6491	broad.mit.edu	37	1	47737845	47737845	+	Silent	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:47737845T>C	ENST00000360380.3	-	14	2649	c.2286A>G	c.(2284-2286)acA>acG	p.T762T	STIL_ENST00000396221.2_Silent_p.T762T|STIL_ENST00000337817.5_Silent_p.T762T|STIL_ENST00000371877.3_Silent_p.T762T|STIL_ENST00000243182.6_Silent_p.T762T			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	762	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAGCTTGCACTGTGTCTTCAA	0.448000													3	81					0	0	0.150653	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348818	122348818	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:122348818C>T	ENST00000398250.1	+	7	972	c.620C>T	c.(619-621)tCc>tTc	p.S207F	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S197F|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.P57S|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.S144F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	207					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGCCTAGATTCCTTTGTGGGT	0.443000													44	64					0	0	0.870114	0	0
PEAR1	375033	broad.mit.edu	37	1	156874639	156874639	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156874639G>A	ENST00000338302.3	+	4	426	c.201G>A	c.(199-201)caG>caA	p.Q67Q	PEAR1_ENST00000292357.7_Silent_p.Q67Q			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	67	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCCCAGCCCACGTGAG	0.652000													17	35					0	0	0.557998	0	0
TXLNB	167838	broad.mit.edu	37	6	139564218	139564218	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:139564218C>T	ENST00000358430.3	-	10	1732	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	500						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCAGATTTTTCACGGCGGTTT	0.488000													51	151					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82580115	82580115	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:82580115C>T	ENST00000423517.2	-	6	10126	c.9789G>A	c.(9787-9789)atG>atA	p.M3263I	PCLO_ENST00000333891.8_Missense_Mutation_p.M3263I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3194					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						GGTGTTGCTTCATAGACTGCA	0.473000													32	122					0	0	0.796494	0	0
GPR137	56834	broad.mit.edu	37	11	64056654	64056654	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64056654A>C	ENST00000438980.2	+	7	1284	c.1177A>C	c.(1177-1179)Acc>Ccc	p.T393P	GPR137_ENST00000377702.4_Missense_Mutation_p.T343P|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Silent_p.P357P|GPR137_ENST00000411458.1_Silent_p.P415P	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	0						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCTCTACTCCACCCCACAGAC	0.657000													37	77					0	0	0.870114	0	0
PTPN5	84867	broad.mit.edu	37	11	18754841	18754841	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:18754841C>T	ENST00000396170.1	-	11	2327	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.V387M|PTPN5_ENST00000358540.2_Missense_Mutation_p.V387M|PTPN5_ENST00000396167.2_Missense_Mutation_p.V355M|PTPN5_ENST00000477854.1_Missense_Mutation_p.V191M|PTPN5_ENST00000396168.1_Missense_Mutation_p.V363M	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	387	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTGCCACACCATGCGCCAG	0.597000													44	86					0	0	0.870114	0	0
FARP1	10160	broad.mit.edu	37	13	99047569	99047569	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:99047569C>T	ENST00000376586.2	+	13	1589	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	FARP1_ENST00000595437.1_Missense_Mutation_p.S418F|FARP1_ENST00000319562.6_Missense_Mutation_p.S418F			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	418					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGAAGGTTTCCGCCGGGGAG	0.687000													10	31					0	0	0.387290	0	0
FSD1	79187	broad.mit.edu	37	19	4317241	4317241	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:4317241G>A	ENST00000221856.6	+	8	910	c.763G>A	c.(763-765)Gga>Aga	p.G255R	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.G255R	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	255	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGTTGCAGGAGAGTTCTC	0.517000													23	70					0	0	0.667858	0	0
FGF21	26291	broad.mit.edu	37	19	49259604	49259604	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:49259604C>T	ENST00000593756.1	+	2	683	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FGF21_ENST00000222157.3_Silent_p.L37L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	37					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGTCCTCTCCTGCAATTCG	0.627000													18	38					0	0	0.575678	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:28914104G>A	ENST00000257192.4	+	8	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	315	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAATGAAGGAAATTGGTTT	0.299000													21	61					0	0	0.608945	0	0
OR52J3	119679	broad.mit.edu	37	11	5068032	5068032	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5068032G>A	ENST00000380370.1	+	1	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E93K(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTCACGAGATTAACTA	0.488000													16	41					0	0	0.575678	0	0
ACAN	176	broad.mit.edu	37	15	89414753	89414753	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:89414753G>A	ENST00000439576.2	+	14	7461	c.7087G>A	c.(7087-7089)Gag>Aag	p.E2363K	ACAN_ENST00000352105.7_Missense_Mutation_p.E2325K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2363K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2325K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2363					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCCCCGAGGAGCAGGAGTT	0.632000													13	41					0	0	0.435327	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465333	77465333	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77465333C>T	ENST00000282849.5	-	3	772	c.354G>A	c.(352-354)ttG>ttA	p.L118L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	118					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTGACTGCTCAAAATCGCCG	0.473000													52	102					0	0	0.870114	0	0
POLI	11201	broad.mit.edu	37	18	51820391	51820391	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:51820391C>G	ENST00000579534.1	+	10	1920	c.1777C>G	c.(1777-1779)Cag>Gag	p.Q593E	POLI_ENST00000406285.3_Missense_Mutation_p.Q514E|POLI_ENST00000579434.1_Missense_Mutation_p.Q490E|POLI_ENST00000217800.5_Missense_Mutation_p.Q467E	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	593	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAGTAGCAAACAGGTATCCTC	0.348000								DNA polymerases (catalytic subunits)					13	40					0	0	0.500413	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630414	47630414	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:47630414T>C	ENST00000371917.4	+	30	4096	c.4096T>C	c.(4096-4098)Ttt>Ctt	p.F1366L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1366					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)			TGGCCACACCTTTGAAAAGCA	0.458000													31	65					0	0	0.779181	0	0
OAS2	4939	broad.mit.edu	37	12	113445518	113445518	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:113445518G>A	ENST00000392583.2	+	9	1872	c.1665G>A	c.(1663-1665)agG>agA	p.R555R	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.R555R	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	555	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGTGAAAGGAAACTGAAGC	0.542000													26	102					0	0	0.760397	0	0
KDM5A	5927	broad.mit.edu	37	12	406238	406238	+	Silent	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:406238A>G	ENST00000399788.2	-	25	4565	c.4203T>C	c.(4201-4203)gcT>gcC	p.A1401A	KDM5A_ENST00000382815.4_Silent_p.A1401A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1401					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGAAGAATAAGCATGCTCTG	0.398000			T	NUP98	AML								26	22					0	0	0.740014	0	0
FGFR2	2263	broad.mit.edu	37	10	123298164	123298164	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:123298164G>A	ENST00000358487.5	-	6	962	c.690C>T	c.(688-690)acC>acT	p.T230T	FGFR2_ENST00000360144.3_Silent_p.T141T|FGFR2_ENST00000369060.4_Silent_p.T230T|FGFR2_ENST00000369056.1_Silent_p.T230T|FGFR2_ENST00000356226.4_Silent_p.T115T|FGFR2_ENST00000369061.4_Silent_p.T230T|FGFR2_ENST00000359354.2_Silent_p.T230T|FGFR2_ENST00000457416.2_Silent_p.T230T|FGFR2_ENST00000351936.6_Silent_p.T230T|FGFR2_ENST00000346997.2_Silent_p.T230T|FGFR2_ENST00000357555.5_Silent_p.T141T|FGFR2_ENST00000369059.1_Silent_p.T115T|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	230	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCACTACACAGGTATAATTTC	0.483000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				25	30					0	0	0.740014	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514795	26514795	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:26514795G>A	ENST00000531191.1	+	16	1758	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CNKSR1_ENST00000374253.5_Missense_Mutation_p.E516K|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E509K			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	516	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCGAGAGGAAGGTAGGTG	0.607000													19	49					0	0	0.654019	0	0
CCDC27	148870	broad.mit.edu	37	1	3673334	3673334	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:3673334C>T	ENST00000294600.2	+	4	675	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	197										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCTGCGAGTTCGATTACTTGC	0.567000													27	60					0	0	0.796494	0	0
KLK14	43847	broad.mit.edu	37	19	51582886	51582886	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:51582886G>A	ENST00000391802.1	-	5	552	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	KLK14_ENST00000156499.2_Missense_Mutation_p.R112C	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	112	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCACCTGACGAACCACGCGC	0.652000													9	17					0	0	0.335167	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907317	12907317	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:12907317C>T	ENST00000317869.6	-	2	1051	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCTCAGCCTCTTTTTCATCA	0.488000													42	122					0	0	0.870114	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:192153620G>A	ENST00000367460.3	+	5	825	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000													33	54					0	0	0.827153	0	0
NWD1	284434	broad.mit.edu	37	19	16910771	16910771	+	Silent	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:16910771C>A	ENST00000524140.2	+	17	3952	c.3534C>A	c.(3532-3534)gcC>gcA	p.A1178A	NWD1_ENST00000552788.1_Silent_p.A1178A|NWD1_ENST00000523826.1_Silent_p.A972A|NWD1_ENST00000379808.3_Silent_p.A1178A|NWD1_ENST00000339803.6_Silent_p.A1043A|NWD1_ENST00000549814.1_Intron	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1178							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTGCTGGCCCGCGGCGGGG	0.622000													16	52					2.37509e-13	2.41998e-13	0.592651	1	0
REG3A	5068	broad.mit.edu	37	2	79385524	79385524	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:79385524G>A	ENST00000393878.1	-	3	515	c.261C>T	c.(259-261)ttC>ttT	p.F87F	REG3A_ENST00000305165.2_Silent_p.F87F|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.F87F	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	87	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGGAGGACACGAAGGATCCCT	0.562000													18	79					0	0	0.624587	0	0
WDR62	284403	broad.mit.edu	37	19	36595489	36595489	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:36595489C>T	ENST00000401500.2	+	31	4258	c.4223C>T	c.(4222-4224)cCc>cTc	p.P1408L	WDR62_ENST00000270301.7_Missense_Mutation_p.P1403L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1403					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGCCCTGCCCCCATCTCCC	0.607000													27	39					0	0	0.693898	0	0
CDH1	999	broad.mit.edu	37	16	68853245	68853245	+	Missense_Mutation	SNP	C	C	T	rs148400889		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:68853245C>T	ENST00000261769.5	+	11	1819	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	CDH1_ENST00000422392.2_Missense_Mutation_p.S482F|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	543	Cadherin 4.			S -> F (in Ref. 2; CAA79356).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTGCCATTTCCACTCGGGCT	0.512000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				34	58					0	0	0.812448	0	0
FAT2	2196	broad.mit.edu	37	5	150914116	150914116	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:150914116G>A	ENST00000261800.5	-	12	9293	c.9281C>T	c.(9280-9282)tCg>tTg	p.S3094L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3094	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTGGCACGATCGGCCACC	0.577000													39	69					0	0	0.870114	0	0
GAPT	202309	broad.mit.edu	37	5	57790634	57790634	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:57790634G>A	ENST00000396776.2	+	3	733	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GAPT_ENST00000318469.2_Missense_Mutation_p.D91N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	91					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TAACACACACGACAACTATGA	0.428000													20	42					0	0	0.639603	0	0
CLVS1	157807	broad.mit.edu	37	8	62212522	62212522	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:62212522C>T	ENST00000519846.1	+	3	608	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CLVS1_ENST00000325897.4_Missense_Mutation_p.P46S|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	46					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAATGAAAACCCCGATGTTTT	0.448000													6	55					0	0	0.217242	0	0
CNTN3	5067	broad.mit.edu	37	3	74347312	74347312	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:74347312C>T	ENST00000263665.6	-	17	2224	c.2197G>A	c.(2197-2199)Ggt>Agt	p.G733S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	733	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCCAAAACCTTCACCATTC	0.458000													15	40					0	0	0.539581	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													3	123					0	0	0.115264	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000													32	62					0	0	0.840704	0	0
AZGP1	563	broad.mit.edu	37	7	99569492	99569492	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:99569492C>T	ENST00000411734.1	-	2	210	c.205G>A	c.(205-207)Gga>Aga	p.G69R	AZGP1_ENST00000292401.4_Missense_Mutation_p.G72R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	72					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCCAGAGTCCCATGGGCTGA	0.512000													36	97					0	0	0.827153	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179641269G>A	ENST00000589042.1	-	28	5546	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_ENST00000359218.5_Silent_p.I1728I|TTN_ENST00000591111.1_Silent_p.I1774I|TTN_ENST00000342992.6_Silent_p.I1774I|TTN_ENST00000360870.5_Silent_p.I1774I|TTN_ENST00000460472.2_Silent_p.I1728I|TTN_ENST00000342175.6_Silent_p.I1728I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1527	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAAGTAATGATACCACTGT	0.423000													36	36					0	0	0.819951	0	0
SPAG5	10615	broad.mit.edu	37	17	26919204	26919204	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:26919204G>A	ENST00000321765.5	-	3	1390	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	353					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCATGACGGAGGTATTTAC	0.527000													54	34					0	0	0.870114	0	0
PCDH20	64881	broad.mit.edu	37	13	61986305	61986305	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:61986305C>T	ENST00000409186.1	-	5	4032	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D643N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	616	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGCTGAAGTCCTTGTTGATA	0.478000													13	55					0	0	0.435327	0	0
JPH1	56704	broad.mit.edu	37	8	75227679	75227679	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:75227679G>A	ENST00000342232.4	-	2	596	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	186					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCGGCCGGGCTGTCGGCG	0.701000													6	13					0	0	0.248553	0	0
KCND1	3750	broad.mit.edu	37	X	48822539	48822539	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:48822539G>A	ENST00000218176.3	-	5	2938	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	KCND1_ENST00000376477.1_Silent_p.S170S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	547						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTGAGGCAGTGGAGTTGGCAA	0.652000													18	14					0	0	0.539581	0	0
OR8B12	219858	broad.mit.edu	37	11	124412768	124412768	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124412768G>A	ENST00000306842.2	-	1	807	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		GGATGGAAAGGGGTTTGAGAT	0.443000													10	47					0	0	0.361761	0	0
VWA2	340706	broad.mit.edu	37	10	116014789	116014789	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:116014789G>A	ENST00000603594.1	+	4	564	c.243G>A	c.(241-243)ctG>ctA	p.L81L	VWA2_ENST00000392982.3_Silent_p.L81L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	81	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTGACGGTCTGGACATCAGCC	0.527000													57	62					0	0	0.870114	0	0
ZNF727	442319	broad.mit.edu	37	7	63538091	63538091	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:63538091C>T	ENST00000550760.3	+	4	843	c.664C>T	c.(664-666)Cat>Tat	p.H222Y		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAATAGAGTTCATACTGGAAA	0.373000													5	16					0	0	0.217242	0	0
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552000													28	70					0	0	0.788014	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995218	140995218	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140995218C>T	ENST00000285879.4	+	4	2314	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	676							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCCTCTCCAGAGTCCTG	0.567000										HNSCC(15;0.026)			39	77					0	0	0.812448	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319545	21319545	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:21319545C>T	ENST00000583088.1	+	3	1786	c.891C>T	c.(889-891)gtC>gtT	p.V297V	KCNJ12_ENST00000331718.5_Silent_p.V297V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGATCGTGGTCATCCTGGAAG	0.622000										Prostate(3;0.18)			4	128					0	0	0.411799	0	0
OR4C46	119749	broad.mit.edu	37	11	51515461	51515461	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:51515461C>T	ENST00000328188.1	+	1	180	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTACCTTTCCCTGGCCTATC	0.463000													90	159					0	0	0.870114	0	0
MARCO	8685	broad.mit.edu	37	2	119727901	119727901	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:119727901C>T	ENST00000541757.1	+	4	557	c.177C>T	c.(175-177)ttC>ttT	p.F59F	MARCO_ENST00000327097.4_Silent_p.F137F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	137					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TAGACAACTTCACTCAGAACC	0.587000													4	9					0	0	0.150653	0	0
MYLK2	85366	broad.mit.edu	37	20	30414655	30414655	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:30414655G>A	ENST00000375994.2	+	7	1411	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	MYLK2_ENST00000375985.4_Missense_Mutation_p.E380K|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	380	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCATCTGACCGAGGTGGACAC	0.572000													18	55					0	0	0.592651	0	0
HOXD12	3238	broad.mit.edu	37	2	176964993	176964993	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:176964993G>A	ENST00000406506.2	+	1	536	c.464G>A	c.(463-465)gGg>gAg	p.G155E	HOXD12_ENST00000404162.2_Missense_Mutation_p.G155E			P35452	HXD12_HUMAN	homeobox D12	155						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTGCTCCAGGGGGCTCCCTGC	0.652000													24	14					0	0	0.729181	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237460	30237460	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:30237460G>A	ENST00000378988.4	+	2	864	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	255	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCTGGTGCAGGAAAAATATCT	0.498000													7	27					0	0	0.278610	0	0
ACTL9	284382	broad.mit.edu	37	19	8808404	8808404	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8808404G>A	ENST00000324436.3	-	1	768	c.648C>T	c.(646-648)caC>caT	p.H216H		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	216						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCGTGGCGTGGAGCAGGT	0.682000													15	47					0	0	0.520397	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251594	25251594	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:25251594G>A	ENST00000328086.7	-	7	3250	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	816					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACCAAAATTTGAGGAGTCATT	0.428000													23	55					0	0	0.693898	0	0
SMYD2	56950	broad.mit.edu	37	1	214492290	214492290	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:214492290C>T	ENST00000366957.5	+	5	520	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Silent_p.F166F	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	166	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ATCTCGGATTCCCTGACAATG	0.473000													30	77					0	0	0.779181	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594528	11594528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:11594528G>A	ENST00000294484.6	+	18	3604	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R42Q|PTCHD2_ENST00000389575.3_Missense_Mutation_p.E1156K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1156					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCTTGCCCGAGGGCTCAGT	0.627000													25	35					0	0	0.681144	0	0
SYCE2	256126	broad.mit.edu	37	19	13011310	13011310	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:13011310C>T	ENST00000293695.7	-	4	477	c.459G>A	c.(457-459)gtG>gtA	p.V153V	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	153					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACACAGTCTCCACGCTGTGGC	0.527000													21	48					0	0	0.608945	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032512	21032512	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:21032512C>T	ENST00000381545.3	+	11	1497	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	LST3_ENST00000540229.1_Silent_p.F426F|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.F426F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F426F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	426					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTATATTTCCCTCTAATCT	0.313000													22	36					0	0	0.667858	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169713	42169713	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:42169713C>T	ENST00000373135.3	+	19	2396	c.2264C>T	c.(2263-2265)tCt>tTt	p.S755F	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S823F|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S823F|L3MBTL1_ENST00000444063.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCTCTGCTCTCTACCCACT	0.438000													95	158					0	0	0.870114	0	0
CDYL2	124359	broad.mit.edu	37	16	80718528	80718528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:80718528G>A	ENST00000299564.8	-	2	678	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	CDYL2_ENST00000562812.1_Missense_Mutation_p.H175Y|CDYL2_ENST00000563890.1_Missense_Mutation_p.H175Y|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.H175Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	175						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCAGGCTGATGGGACCCATTT	0.502000													42	66					0	0	0.853193	0	0
BRPF1	7862	broad.mit.edu	37	3	9781495	9781495	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:9781495A>G	ENST00000383829.2	+	3	1816	c.1412A>G	c.(1411-1413)gAg>gGg	p.E471G	BRPF1_ENST00000433861.2_Missense_Mutation_p.E471G|BRPF1_ENST00000424362.1_Missense_Mutation_p.E471G|BRPF1_ENST00000302054.3_Missense_Mutation_p.E471G|BRPF1_ENST00000457855.1_Missense_Mutation_p.E471G	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	471					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					gaagatgaggaggaggatgag	0.582000													9	9					0	0	0.361761	0	0
CARD11	84433	broad.mit.edu	37	7	2954992	2954992	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:2954992G>A	ENST00000396946.4	-	21	3121	c.2718C>T	c.(2716-2718)tcC>tcT	p.S906S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	906					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACTTGTTCTCGGACCTGCTGA	0.612000			Mis		DLBCL								3	84					0	0	0.115264	0	0
REV1	51455	broad.mit.edu	37	2	100065964	100065964	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:100065964G>A	ENST00000258428.3	-	4	412	c.184C>T	c.(184-186)Cct>Tct	p.P62S	REV1_ENST00000393445.3_Missense_Mutation_p.P62S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	62	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCGGAAGGATCTGCaaaa	0.303000								Direct reversal of damage					26	22					0	0	0.693898	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100861	149100861	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:149100861G>A	ENST00000370406.3	-	5	1206	c.378C>T	c.(376-378)aaC>aaT	p.N126N	CXorf40B_ENST00000370404.1_Silent_p.N126N|CXorf40B_ENST00000355203.2_Silent_p.N126N|CXorf40B_ENST00000462691.1_Silent_p.N126N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	126										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACCTGGGGTTTGAAATCA	0.502000													42	133					0	0	0.870114	0	0
IFT122	55764	broad.mit.edu	37	3	129231158	129231158	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:129231158G>A	ENST00000296266.3	+	25	3235	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N	IFT122_ENST00000504021.1_Missense_Mutation_p.D841N|IFT122_ENST00000348417.2_Missense_Mutation_p.D964N|IFT122_ENST00000507564.1_Missense_Mutation_p.D957N|IFT122_ENST00000347300.2_Missense_Mutation_p.D905N|IFT122_ENST00000440957.2_Missense_Mutation_p.D755N|IFT122_ENST00000431818.2_Missense_Mutation_p.D814N|IFT122_ENST00000349441.2_Missense_Mutation_p.D854N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	964					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						ACTGCAGGAAGATCCGTTCAG	0.507000													56	143					0	0	0.870114	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550139	21550139	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:21550139A>T	ENST00000425654.2	+	11	1737	c.1257A>T	c.(1255-1257)aaA>aaT	p.K419N	CNKSR2_ENST00000379510.3_Missense_Mutation_p.K419N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.K419N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.K370N|CNKSR2_ENST00000485012.1_3'UTR	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	419	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATATGAAAAAGGAAGATCAA	0.333000													8	74					0	0	0.361761	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389146	119389146	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:119389146C>T	ENST00000326624.2	+	2	2104	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ZBTB33_ENST00000557385.1_Missense_Mutation_p.P626S	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	626	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAAGAACCTCCAGTAGGGAC	0.368000													29	90					0	0	0.750413	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682244	50682244	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50682244G>A	ENST00000439308.2	-	1	1137	c.645C>T	c.(643-645)ttC>ttT	p.F215F	TUBGCP6_ENST00000248846.5_Silent_p.F215F	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	215					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAAGGGCCCCGAAGAGCGAGA	0.627000													11	41					0	0	0.411799	0	0
LEPREL2	10536	broad.mit.edu	37	12	6946236	6946236	+	RNA	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:6946236C>T	ENST00000251761.8	+	0	1579				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GCTCACGGTGCTTAAGGCTGC	0.667000													33	45					0	0	0.819951	0	0
PAPPA	5069	broad.mit.edu	37	9	118950233	118950233	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:118950233C>T	ENST00000328252.3	+	2	1585	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	406	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTCCTCCCTTCGCCGCCGCCT	0.612000													21	74					0	0	0.667858	0	0
COL5A3	50509	broad.mit.edu	37	19	10084864	10084864	+	Missense_Mutation	SNP	C	C	T	rs147491932		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:10084864C>T	ENST00000264828.3	-	47	3572	c.3487G>A	c.(3487-3489)Gga>Aga	p.G1163R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1163	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGACGTCTCCGACCTCCCCT	0.587000													30	54					0	0	0.827153	0	0
LRMP	4033	broad.mit.edu	37	12	25260825	25260825	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:25260825C>T	ENST00000354454.3	+	21	2160	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	LRMP_ENST00000547044.1_Missense_Mutation_p.S444F|LRMP_ENST00000548766.1_Missense_Mutation_p.S444F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	500					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTCTGGCTCTCTATTGCATTC	0.438000													46	58					0	0	0.870114	0	0
OR51B2	79345	broad.mit.edu	37	11	5345482	5345482	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5345482G>A	ENST00000328813.2	-	1	100	c.46C>T	c.(46-48)Cca>Tca	p.P16S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAGCCCTGGAAAGCCAGTC	0.498000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	37					0	0	0.278610	0	0
MYO1C	4641	broad.mit.edu	37	17	1384096	1384096	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:1384096G>A	ENST00000359786.5	-	6	1035	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MYO1C_ENST00000575158.1_Silent_p.F202F|MYO1C_ENST00000361007.2_Silent_p.F202F|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000545534.2_Silent_p.F213F|MYO1C_ENST00000438665.2_Silent_p.F218F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	237	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGATGTGGAAGTTCCGCT	0.612000													67	51					0	0	0.870114	0	0
SNX33	257364	broad.mit.edu	37	15	75941532	75941532	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:75941532T>G	ENST00000308527.5	+	1	1286	c.89T>G	c.(88-90)tTt>tGt	p.F30C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	30	SH3.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTGGTCATCTTTAGCGAGACC	0.572000													65	136					0	0	0.870114	0	0
ENAM	10117	broad.mit.edu	37	4	71509972	71509972	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:71509972C>T	ENST00000396073.3	+	9	3110	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	943					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGCCAAAACCCTTTTAGAG	0.453000													19	64					0	0	0.575678	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296119	233296119	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:233296119C>T	ENST00000258229.8	-	19	3661	c.3427G>A	c.(3427-3429)Gtg>Atg	p.V1143M	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V276M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1143						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGGGAGCACGTAATGTGTT	0.468000													24	44					0	0	0.681144	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													3	89					0	0	0.115264	0	0
TPTE	7179	broad.mit.edu	37	21	10920136	10920136	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:10920136C>T	ENST00000298232.7	-	18	1431	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	TPTE_ENST00000361285.4_Missense_Mutation_p.R373Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R335Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATCTGTTCGCCTTTCTCC	0.383000													8	89					0	0	0.387290	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	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				52	65					0	0	0.870114	0	0
MRPS23	51649	broad.mit.edu	37	17	55926609	55926609	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:55926609C>T	ENST00000313608.8	-	2	252	c.207G>A	c.(205-207)cgG>cgA	p.R69R	MRPS23_ENST00000578444.1_Silent_p.R69R	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	69					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ACGCTCTAATCCGATCCTCGT	0.537000													39	44					0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993623	140993623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:140993623C>T	ENST00000285879.4	+	4	719	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	145							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTATTTTCCAGAGTTCCCC	0.498000										HNSCC(15;0.026)			26	55					0	0	0.706142	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													3	118					0	0	0.115264	0	0
GZMB	3002	broad.mit.edu	37	14	25101178	25101178	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:25101178C>T	ENST00000216341.4	-	4	592	c.486G>A	c.(484-486)gaG>gaA	p.E162E	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.E196E|GZMB_ENST00000415355.3_Silent_p.E150E|GZMB_ENST00000382540.1_Silent_p.E117E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	162	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATCTTCACCTCTTGTAGTG	0.537000													30	89					0	0	0.750413	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540140	111540140	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:111540140G>A	ENST00000261486.5	-	15	1584	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	436						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCGTGTAAGGGAACTTTGGCG	0.498000													49	117					0	0	0.870114	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	C	T	rs79127167		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:81600036C>T	ENST00000356860.3	-	27	2497	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R732Q|CACNA2D1_ENST00000535308.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	732						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACAACAAATCGTGCTTTCAC	0.363000													37	153					0	0	0.870114	0	0
ASB2	51676	broad.mit.edu	37	14	94404084	94404084	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94404084G>A	ENST00000555019.1	-	9	2161	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	ASB2_ENST00000315988.4_Silent_p.I529I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	529	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CAAAGCTGTCGATGTGTTCCT	0.617000													37	57					0	0	0.859065	0	0
MAST2	23139	broad.mit.edu	37	1	46496333	46496333	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:46496333C>T	ENST00000361297.2	+	22	2891	c.2608C>T	c.(2608-2610)Ccg>Tcg	p.P870S	MAST2_ENST00000372009.2_Missense_Mutation_p.P800S|MAST2_ENST00000372008.1_Missense_Mutation_p.P755S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	870					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GACACCACCCCCGACCAAGCG	0.652000													5	16					0	0	0.184627	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564393	61564393	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:61564393G>A	ENST00000457692.1	+	5	690	c.357G>A	c.(355-357)ggG>ggA	p.G119G	SERPINB2_ENST00000299502.4_Silent_p.G119G|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	119					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CATCCACAGGGAATTATTTAC	0.408000													27	80					0	0	0.717897	0	0
PDYN	5173	broad.mit.edu	37	20	1961046	1961046	+	Missense_Mutation	SNP	G	G	A	rs75861277		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:1961046G>A	ENST00000217305.2	-	4	913	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	PDYN_ENST00000540134.1_Missense_Mutation_p.L230F|PDYN_ENST00000539905.1_Missense_Mutation_p.L230F|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	230					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCGCCGGAGAAAACCGCCA	0.532000													69	117					0	0	0.870114	0	0
NBEA	26960	broad.mit.edu	37	13	35619464	35619464	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:35619464T>G	ENST00000540320.1	+	4	1183	c.649T>G	c.(649-651)Tta>Gta	p.L217V	NBEA_ENST00000379939.2_Missense_Mutation_p.L217V|NBEA_ENST00000310336.4_Missense_Mutation_p.L217V|NBEA_ENST00000400445.3_Missense_Mutation_p.L217V			Q8NFP9	NBEA_HUMAN	neurobeachin	217						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAAAATTATTATCAGTTCT	0.358000													8	18					0	0	0.278610	0	0
SIRT4	23409	broad.mit.edu	37	12	120750760	120750760	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:120750760C>T	ENST00000202967.4	+	4	925	c.866C>T	c.(865-867)cCc>cTc	p.P289L	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	289	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACATTGGGCCCACACGGTCG	0.488000													45	127					0	0	0.853193	0	0
THOC2	57187	broad.mit.edu	37	X	122769997	122769997	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:122769997G>A	ENST00000245838.8	-	19	1982	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	THOC2_ENST00000491737.1_Missense_Mutation_p.R536C|THOC2_ENST00000355725.4_Missense_Mutation_p.R651C	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	651					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGATATTTACGAAAAACTGCA	0.323000													12	88					0	0	0.457914	0	0
OR4S2	219431	broad.mit.edu	37	11	55418899	55418899	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:55418899C>T	ENST00000312422.2	+	1	520	c.520C>T	c.(520-522)Cac>Tac	p.H174Y		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGAGATAGATCACTACTTTTG	0.448000													45	234					0	0	0.870114	0	0
CLCA4	22802	broad.mit.edu	37	1	87033125	87033125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:87033125C>T	ENST00000370563.3	+	7	1015	c.973C>T	c.(973-975)Cga>Tga	p.R325*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.R38*	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	325	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCGCCTAAATCGAATGAATCA	0.363000													20	49					0	0	0.639603	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560626	44560626	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:44560626G>A	ENST00000289547.4	-	13	3100	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	NPC1L1_ENST00000381160.3_Silent_p.F1015F|NPC1L1_ENST00000546276.1_Silent_p.F969F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1015					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTCGTTCAGGAACCAGGGAA	0.537000													74	279					0	0	0.870114	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	G	A	rs142415589	byFrequency	TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:70079978G>A	ENST00000446444.1	-	1	471	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000													18	89					0	0	0.608945	0	0
USH2A	7399	broad.mit.edu	37	1	216251555	216251555	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:216251555C>T	ENST00000366943.2	-	27	5834	c.5448G>A	c.(5446-5448)gtG>gtA	p.V1816V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1816V|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1816	Laminin G-like 2.				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)		TCAGTCCATTCACACTTGCTG	0.443000										HNSCC(13;0.011)			52	132					0	0	0.870114	0	0
MROH2B	133558	broad.mit.edu	37	5	41058252	41058252	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:41058252C>T	ENST00000399564.4	-	7	1119	c.669G>A	c.(667-669)cgG>cgA	p.R223R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGAAGTCTTCCCGATGCAGCA	0.507000													5	27					0	0	0.217242	0	0
VRTN	55237	broad.mit.edu	37	14	74824812	74824812	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:74824812G>A	ENST00000256362.4	+	2	1567	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	442					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCGGCGAAAGGCCCTCCGGA	0.572000													22	59					0	0	0.608945	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677325	3677325	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:3677325C>T	ENST00000344754.4	-	10	2590	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R864Q	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	864	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCAGTTCTCGGACCTCTAA	0.592000													39	68					0	0	0.853193	0	0
RANBP2	5903	broad.mit.edu	37	2	109379960	109379960	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:109379960C>T	ENST00000283195.6	+	20	3091	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	989					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTGCAGCTCATGCTTCAAG	0.423000													45	38					0	0	0.870114	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:166964467C>T	ENST00000061240.2	+	12	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q474*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	474	CUB 2.				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)		AGGACAGATTCAGTCTCCCAA	0.413000													43	124					0	0	0.870114	0	0
FZD9	8326	broad.mit.edu	37	7	72849810	72849810	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:72849810C>T	ENST00000344575.3	+	1	1702	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	491					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGCGGGGCCCGGAGGCCGGA	0.652000													37	35					0	0	0.847076	0	0
SPATA8	145946	broad.mit.edu	37	15	97327388	97327388	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:97327388C>T	ENST00000328504.3	+	2	362	c.95C>T	c.(94-96)tCg>tTg	p.S32L	SPATA8_ENST00000558553.1_5'UTR	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	32										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TGCAGAACCTCGTCGCGACAT	0.567000													29	55					0	0	0.796494	0	0
NAV3	89795	broad.mit.edu	37	12	78513686	78513686	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:78513686G>A	ENST00000397909.2	+	15	3883	c.3710G>A	c.(3709-3711)gGa>gAa	p.G1237E	NAV3_ENST00000266692.7_Missense_Mutation_p.G1237E|NAV3_ENST00000228327.6_Missense_Mutation_p.G1237E|NAV3_ENST00000536525.2_Missense_Mutation_p.G1237E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1237	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCAGCCAGGATCCAAGTAT	0.453000										HNSCC(70;0.22)			21	64					0	0	0.693898	0	0
NOS3	4846	broad.mit.edu	37	7	150692318	150692318	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:150692318C>T	ENST00000297494.3	+	3	543	c.186C>T	c.(184-186)ccC>ccT	p.P62P	NOS3_ENST00000484524.1_Silent_p.P62P|NOS3_ENST00000467517.1_Silent_p.P62P|NOS3_ENST00000461406.1_5'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	62					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TAACCCAGCCCCCAGAGGGGC	0.637000													14	52					0	0	0.520397	0	0
ROR1	4919	broad.mit.edu	37	1	64603123	64603123	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:64603123G>A	ENST00000371079.1	+	5	929	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.R185H	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	185	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTGGCAACCGCACCGTCTAT	0.398000													45	89					0	0	0.870114	0	0
DNMBP	23268	broad.mit.edu	37	10	101715388	101715388	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:101715388G>A	ENST00000342239.3	-	4	1934	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P615S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	615	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGAGTACAGGGACGAGGTGGC	0.567000													15	20					0	0	0.575678	0	0
ASH1L	55870	broad.mit.edu	37	1	155450714	155450714	+	Silent	SNP	G	G	A	rs146736660		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:155450714G>A	ENST00000368346.3	-	3	2586	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	ASH1L_ENST00000392403.3_Silent_p.S649S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	649					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTTCCAAGGGAAGAGCTTA	0.318000													25	42					0	0	0.667858	0	0
KCTD12	115207	broad.mit.edu	37	13	77459381	77459381	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:77459381G>A	ENST00000377474.2	-	1	1144	c.903C>T	c.(901-903)gcC>gcT	p.A301A	KCTD12_ENST00000317765.2_Silent_p.A301A	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	301						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGCTGGCAAAGGCGCAGGTGC	0.622000											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	21					0	0	0.411799	0	0
LPAR1	1902	broad.mit.edu	37	9	113703746	113703746	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:113703746G>A	ENST00000374431.3	-	4	1131	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	LPAR1_ENST00000374430.2_Missense_Mutation_p.R250W|LPAR1_ENST00000358883.4_Missense_Mutation_p.R250W|LPAR1_ENST00000538760.1_Missense_Mutation_p.R251W|LPAR1_ENST00000541779.1_Missense_Mutation_p.R251W	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	250					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATGGTATCCCGATTCCGCCGG	0.443000													33	55					0	0	0.827153	0	0
NLRC4	58484	broad.mit.edu	37	2	32476208	32476208	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:32476208C>T	ENST00000404025.2	-	5	1213	c.725G>A	c.(724-726)aGg>aAg	p.R242K	NLRC4_ENST00000402280.1_Missense_Mutation_p.R242K|NLRC4_ENST00000360906.5_Missense_Mutation_p.R242K|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	242	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAAAAGAACCCTCTGCCGCAG	0.488000													34	44					0	0	0.812448	0	0
EFHB	151651	broad.mit.edu	37	3	19926044	19926044	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:19926044A>C	ENST00000295824.9	-	11	2158	c.1997T>G	c.(1996-1998)cTc>cGc	p.L666R	EFHB_ENST00000344838.4_Missense_Mutation_p.L536R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	666					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGGCTTTATGAGGAGAGTTTG	0.368000													10	75					0	0	0.435327	0	0
APOB	338	broad.mit.edu	37	2	21239402	21239402	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:21239402C>T	ENST00000233242.1	-	21	3368	c.3241G>A	c.(3241-3243)Gat>Aat	p.D1081N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1081					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAGATTCATCATTAACTCTG	0.433000													25	29					0	0	0.693898	0	0
ADARB2	105	broad.mit.edu	37	10	1262994	1262994	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:1262994C>T	ENST00000381312.1	-	7	1904	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	527	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACCGTCCCTTCCCCGGACTCG	0.647000													4	7					0	0	0.150653	0	0
PRX	57716	broad.mit.edu	37	19	40900022	40900022	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:40900022G>A	ENST00000324001.7	-	7	4507	c.4237C>T	c.(4237-4239)Ccc>Tcc	p.P1413S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1413					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACACCCTGGGGAAGCGGAAC	0.662000													37	89					0	0	0.870114	0	0
ZNF41	7592	broad.mit.edu	37	X	47307452	47307452	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47307452G>A	ENST00000377065.4	-	5	2356	c.1717C>T	c.(1717-1719)Cat>Tat	p.H573Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H573Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H583Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCAATATGAGATTTCTGA	0.438000													9	38					0	0	0.361761	0	0
QRFP	347148	broad.mit.edu	37	9	133769099	133769099	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:133769099G>A	ENST00000343079.1	-	1	126	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_198180.1	NP_937823.1	P83859	OX26_HUMAN	pyroglutamylated RFamide peptide	43					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CCCATGGCCAGGTCGGCCCAG	0.667000													12	15					0	0	0.411799	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	104					0	0	0.115264	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440299	49440299	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:49440299C>T	ENST00000374201.3	-	10	1329	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D312N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D319N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	343	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACACAGAGGTCCCTGAGAGCC	0.438000													15	18					0	0	0.500413	0	0
DGKA	1606	broad.mit.edu	37	12	56347547	56347547	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:56347547A>T	ENST00000331886.5	+	24	2657	c.2203A>T	c.(2203-2205)Agc>Tgc	p.S735C	DGKA_ENST00000394147.1_Missense_Mutation_p.S735C|DGKA_ENST00000551156.1_Missense_Mutation_p.S735C|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGCTTCTTGAGCTAAGGGGG	0.572000													21	56					0	0	0.575678	0	0
KCNIP4	80333	broad.mit.edu	37	4	20736339	20736339	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:20736339G>A	ENST00000382148.3	-	5	710	c.374C>T	c.(373-375)tCc>tTc	p.S125F	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.S116F|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.S88F|KCNIP4_ENST00000382150.4_Missense_Mutation_p.S129F|KCNIP4_ENST00000382152.2_Missense_Mutation_p.S150F|KCNIP4_ENST00000359001.5_Missense_Mutation_p.S88F	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	150	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAGCAAAATGGAAAGACCTTT	0.313000													30	73					0	0	0.779181	0	0
LILRB1	10859	broad.mit.edu	37	19	55144586	55144586	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:55144586G>A	ENST00000396331.1	+	8	1435	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	LILRB1_ENST00000324602.7_Missense_Mutation_p.E360K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E360K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E360K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E360K|LILRB1_ENST00000427581.2_Missense_Mutation_p.E396K|LILRB1_ENST00000396315.1_Missense_Mutation_p.E360K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E360K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E360K|LILRB1_ENST00000434867.2_Missense_Mutation_p.E360K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E360K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	360	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTGACCAAGGAGGGGGCAGC	0.582000										HNSCC(37;0.09)			30	77					0	0	0.706142	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926337	106926337	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:106926337G>A	ENST00000434710.1	-	0	284																											CAACTAATAAGAGAGACCCAC	0.507000													58	142					0	0	0.870114	0	0
SYCP1	6847	broad.mit.edu	37	1	115524020	115524020	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:115524020C>T	ENST00000369522.3	+	29	2686	c.2446C>T	c.(2446-2448)Cct>Tct	p.P816S	SYCP1_ENST00000369518.1_Missense_Mutation_p.P816S|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	816					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCAGTTCCTTCACAAAC	0.323000													34	84					0	0	0.788014	0	0
KRT16	3868	broad.mit.edu	37	17	39768589	39768589	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:39768589T>C	ENST00000301653.4	-	1	416	c.352A>G	c.(352-354)Aag>Gag	p.K118E		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	118	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ATGGTCACCTTCTCACTGCCC	0.597000													26	29					0	0	0.870114	0	0
CACNA1F	778	broad.mit.edu	37	X	49066156	49066156	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:49066156A>G	ENST00000376265.2	-	41	4848	c.4787T>C	c.(4786-4788)tTc>tCc	p.F1596S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1585S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1531S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1596					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCGCCGGAATTTGCGGAA	0.582000													9	21					0	0	0.307466	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784098	156784098	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156784098G>A	ENST00000392306.2	-	4	466	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SH2D2A_ENST00000368199.3_Intron|SH2D2A_ENST00000368198.3_Intron	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	103	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTGGGTGACGGAGAGAGGGG	0.647000													7	16					0	0	0.248553	0	0
ZNF675	171392	broad.mit.edu	37	19	23844924	23844924	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:23844924T>C	ENST00000359788.4	-	3	386	c.218A>G	c.(217-219)gAa>gGa	p.E73G	ZNF675_ENST00000601010.1_Missense_Mutation_p.E73G|ZNF675_ENST00000600313.1_Missense_Mutation_p.E73G|ZNF675_ENST00000599168.1_Missense_Mutation_p.E73G|ZNF675_ENST00000596211.1_Missense_Mutation_p.E73G|ZNF675_ENST00000601935.1_Missense_Mutation_p.E73G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTGGGGGTTCATTCACCAT	0.418000													37	84					0	0	0.834066	0	0
SATB1	6304	broad.mit.edu	37	3	18393630	18393630	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:18393630G>A	ENST00000338745.6	-	10	3367	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	SATB1_ENST00000454909.2_Silent_p.L545L|SATB1_ENST00000417717.2_Silent_p.L545L|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	545					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCTCCCACAGGGTTCTGTTT	0.502000													16	22					0	0	0.575678	0	0
MCF2	4168	broad.mit.edu	37	X	138697067	138697067	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:138697067C>A	ENST00000520602.1	-	13	1801	c.1516G>T	c.(1516-1518)Ggg>Tgg	p.G506W	MCF2_ENST00000414978.1_Missense_Mutation_p.G506W|MCF2_ENST00000370576.4_Missense_Mutation_p.G446W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370578.4_Missense_Mutation_p.G591W|MCF2_ENST00000370573.4_Missense_Mutation_p.G446W|MCF2_ENST00000536274.1_Missense_Mutation_p.G407W|MCF2_ENST00000338585.6_Missense_Mutation_p.G446W|MCF2_ENST00000519895.1_Missense_Mutation_p.G506W			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	446	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATGGTGTCCCAGATGTGACC	0.373000													77	125					7.49063e-41	7.68057e-41	0.870114	1	0
OR5M1	390168	broad.mit.edu	37	11	56380701	56380701	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:56380701G>A	ENST00000526538.1	-	1	277	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCAGCGTAGGAGATGGTCTT	0.438000													10	69					0	0	0.411799	0	0
NAT2	10	broad.mit.edu	37	8	18258245	18258245	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:18258245C>T	ENST00000286479.3	+	2	839	c.732C>T	c.(730-732)ttC>ttT	p.F244F	NAT2_ENST00000520116.1_Silent_p.F114F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATAGAAAATTCAATTATAAAG	0.388000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				10	35					0	0	0.387290	0	0
OR52E2	119678	broad.mit.edu	37	11	5079909	5079909	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:5079909C>T	ENST00000321522.2	-	1	948	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E317K(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTACTCTTCCTTTTCCATT	0.338000													15	29					0	0	0.539581	0	0
KLB	152831	broad.mit.edu	37	4	39439491	39439491	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:39439491C>T	ENST00000257408.4	+	3	1578	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	494	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAACCTAAGTCTTCAGCACAC	0.443000													26	66					0	0	0.750413	0	0
MUC16	94025	broad.mit.edu	37	19	9016683	9016683	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9016683G>A	ENST00000397910.4	-	28	38257	c.38054C>T	c.(38053-38055)cCa>cTa	p.P12685L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12687					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						GAGGGAGGATGGAGTCCCTGA	0.483000													12	32					0	0	0.520397	0	0
BRINP3	339479	broad.mit.edu	37	1	190067932	190067932	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:190067932C>A	ENST00000367462.3	-	8	1748	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	FAM5C_ENST00000534846.1_Missense_Mutation_p.R404I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		506						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCTATTCGTCTGTCCGTTTT	0.488000													37	89					5.59293e-11	5.68966e-11	0.827153	1	0
SERPINA10	51156	broad.mit.edu	37	14	94750329	94750329	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:94750329G>A	ENST00000554723.1	-	5	1846	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	SERPINA10_ENST00000554173.1_Silent_p.G436G|SERPINA10_ENST00000261994.4_Silent_p.G436G|SERPINA10_ENST00000393096.1_Silent_p.G436G			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	436					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCACCACCCTGCCCAGAAACA	0.448000													22	81					0	0	0.693898	0	0
OR51E1	143503	broad.mit.edu	37	11	4673817	4673817	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:4673817C>T	ENST00000396952.5	+	2	711	c.61C>T	c.(61-63)Cct>Tct	p.P21S	OR51E1_ENST00000530215.1_Missense_Mutation_p.P21S	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATAGGCCTCCCTGGTTTAGA	0.493000													54	119					0	0	0.870114	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967815	48967815	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:48967815G>A	ENST00000391884.1	+	2	1568	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	KCNJ14_ENST00000342291.2_Silent_p.K364K			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	364						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGTGCTAAGGAGCTGGATG	0.542000													17	51					0	0	0.592651	0	0
MUC16	94025	broad.mit.edu	37	19	9070835	9070835	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:9070835G>A	ENST00000397910.4	-	3	16814	c.16611C>T	c.(16609-16611)ccC>ccT	p.P5537P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5539	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						GTGCTATTGTGGGCCGATCAA	0.483000													39	73					0	0	0.840704	0	0
WDR44	54521	broad.mit.edu	37	X	117527156	117527156	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:117527156C>T	ENST00000254029.3	+	4	1143	c.748C>T	c.(748-750)Cct>Tct	p.P250S	WDR44_ENST00000371825.3_Missense_Mutation_p.P250S|WDR44_ENST00000371822.5_Missense_Mutation_p.P225S|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	250	Pro-rich.			P -> L (in Ref. 2; CAL38662).		cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCCCACCTCCTTCTCGACC	0.463000													41	200					0	0	0.870114	0	0
IFRD2	7866	broad.mit.edu	37	3	50329957	50329957	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:50329957G>A	ENST00000336089.4	-	3	300	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	106							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAGCGCGCAGGCGACGGCGG	0.637000													11	37					0	0	0.457914	0	0
ACTR10	55860	broad.mit.edu	37	14	58701235	58701235	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:58701235C>T	ENST00000254286.4	+	13	1300	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	407						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ACTCAACCACCTCTGATGAAG	0.348000													27	58					0	0	0.750413	0	0
CD1E	913	broad.mit.edu	37	1	158325805	158325805	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:158325805A>G	ENST00000444681.2	+	3	810	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.T83A|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.T272A|CD1E_ENST00000452291.2_Missense_Mutation_p.T83A|CD1E_ENST00000368156.1_Missense_Mutation_p.T182A|CD1E_ENST00000368165.3_Missense_Mutation_p.T182A|CD1E_ENST00000368167.3_Missense_Mutation_p.T272A|CD1E_ENST00000434258.1_Missense_Mutation_p.T270A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	272					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTCCGAGCAACCCTGGATGT	0.612000													37	104					0	0	0.827153	0	0
UNC13C	440279	broad.mit.edu	37	15	54527229	54527229	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54527229G>A	ENST00000545554.1	+	4	3073	c.3071_splice	c.e4-1	p.A1025_splice	UNC13C_ENST00000260323.11_Splice_Site_p.A1025_splice|UNC13C_ENST00000537900.1_Splice_Site_p.A1025_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1025					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTTCAGGGCTGGAGGTGG	0.368000													24	46					0	0	0.667858	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149136	103149136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:103149136C>T	ENST00000295269.4	+	12	2843	c.2386C>T	c.(2386-2388)Caa>Taa	p.Q796*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTTTGCTCCAAAAAAAATA	0.473000													5	22					0	0	0.411799	0	0
DCP1A	55802	broad.mit.edu	37	3	53326850	53326850	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:53326850G>A	ENST00000607628.1	-	7	741	c.632C>T	c.(631-633)cCa>cTa	p.P211L	DCP1A_ENST00000606822.1_Missense_Mutation_p.P173L|DCP1A_ENST00000294241.6_Missense_Mutation_p.P211L|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	211					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTGTCCAGATGGAGCAGACTG	0.423000													16	29					0	0	0.539581	0	0
ABCB1	5243	broad.mit.edu	37	7	87178784	87178784	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:87178784C>A	ENST00000265724.3	-	15	2022	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q471H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	535	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCTCTGCTTCTGCCCACCAC	0.542000													90	100					5.66435e-50	5.8172e-50	0.870114	1	0
DOCK2	1794	broad.mit.edu	37	5	169135259	169135259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:169135259G>A	ENST00000520908.1	+	2	214	c.50G>A	c.(49-51)tGg>tAg	p.W17*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000256935.8_Missense_Mutation_p.M490I			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	0	SH3.				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)			CACGCTGGATGGAAACAGTCA	0.398000													10	37					0	0	0.435327	0	0
SULF1	23213	broad.mit.edu	37	8	70533306	70533306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr8:70533306C>T	ENST00000260128.4	+	14	2131	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	SULF1_ENST00000419716.3_Nonsense_Mutation_p.R472*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.R472*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.R472*|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	472					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGCAAGCTTCGAATTCACAA	0.498000													33	48					0	0	0.853193	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913684	77913684	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:77913684C>T	ENST00000321110.1	-	2	529	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	78	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ACTCTGGGGTCTTTTGGGCCT	0.612000													6	14					0	0	0.217242	0	0
ZNF99	7652	broad.mit.edu	37	19	22939793	22939793	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:22939793C>T	ENST00000397104.3	-	6	2537	c.2538G>A	c.(2536-2538)agG>agA	p.R846R						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGCTG	0.348000													30	46					0	0	0.729181	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332666	22332666	+	RNA	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:22332666C>T	ENST00000558896.1	+	0	473																											TAGGGGATTTCCTACAGCAGG	0.443000													21	192					0	0	0.575678	0	0
MICU2	221154	broad.mit.edu	37	13	22084147	22084147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:22084147G>A	ENST00000382374.4	-	8	822	c.757C>T	c.(757-759)Cga>Tga	p.R253*		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		ATTTACCTTCGAAATTCTTTA	0.284000													13	26					0	0	0.479597	0	0
PLCB3	5331	broad.mit.edu	37	11	64029508	64029508	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:64029508C>T	ENST00000540288.1	+	17	2101	c.1998C>T	c.(1996-1998)aaC>aaT	p.N666N	PLCB3_ENST00000325234.5_Silent_p.N599N|PLCB3_ENST00000279230.6_Silent_p.N666N	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	666	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCTTCTGGAACGTAGGGTGCC	0.592000													25	54					0	0	0.706142	0	0
P2RY10	27334	broad.mit.edu	37	X	78216762	78216762	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:78216762G>A	ENST00000171757.2	+	4	1025	c.745G>A	c.(745-747)Gct>Act	p.A249T	P2RY10_ENST00000544091.1_Missense_Mutation_p.A249T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	249						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTTCATGTGTGCTGCAGTCTT	0.438000													20	22					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179604643	179604643	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:179604643G>A	ENST00000589042.1	-	48	13541	c.13317C>T	c.(13315-13317)atC>atT	p.I4439I	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.I4201I|TTN_ENST00000591111.1_Silent_p.I4122I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.I4076I|TTN_ENST00000342175.6_Silent_p.I4268I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4122	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATGCACATGATGTGTCTGG	0.453000													41	35					0	0	0.834066	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401502	77401502	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:77401502C>T	ENST00000282849.5	-	4	1032	c.614G>A	c.(613-615)aGg>aAg	p.R205K	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	205					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCTGCTGTCCTTTTGTACAG	0.537000													22	63					0	0	0.654019	0	0
CA5B	11238	broad.mit.edu	37	X	15790710	15790710	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:15790710C>T	ENST00000318636.3	+	4	568	c.432C>T	c.(430-432)acC>acT	p.T144T	CA5B_ENST00000454127.2_Silent_p.T144T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	144					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CTGAGCACACCGTGGACAGCA	0.488000													40	226					0	0	0.870114	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101263	16101263	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:16101263G>A	ENST00000375766.3	+	7	1502	c.862G>A	c.(862-864)Gag>Aag	p.E288K	FBLIM1_ENST00000400773.1_Missense_Mutation_p.E191K|FBLIM1_ENST00000332305.5_Missense_Mutation_p.E191K|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E288K|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E288K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	288	LIM zinc-binding 2.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGCCAGAACGAGGTGTACTG	0.632000													48	135					0	0	0.870114	0	0
C9orf171	389799	broad.mit.edu	37	9	135374949	135374949	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:135374949C>T	ENST00000343036.2	+	4	642	c.594C>T	c.(592-594)ccC>ccT	p.P198P	C9orf171_ENST00000393215.3_Silent_p.P162P|C9orf171_ENST00000393216.2_Silent_p.P162P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	198										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AAGAGCCGCCCCCTCTCCCTC	0.602000													31	100					0	0	0.788014	0	0
USP29	57663	broad.mit.edu	37	19	57640948	57640948	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:57640948C>T	ENST00000254181.4	+	4	1359	c.905C>T	c.(904-906)tCg>tTg	p.S302L	USP29_ENST00000598197.1_Missense_Mutation_p.S302L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	302					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTTACAATCGCTATTTGCA	0.453000													19	40					0	0	0.575678	0	0
UCHL1	7345	broad.mit.edu	37	4	41262709	41262709	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:41262709G>A	ENST00000284440.4	+	4	364	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	UCHL1_ENST00000503431.1_Missense_Mutation_p.E74K|UCHL1_ENST00000508768.1_Missense_Mutation_p.E74K|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.E74K	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	74					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GAAGGGACAAGAAGTTAGTCC	0.418000													29	40					0	0	0.717897	0	0
PLXNC1	10154	broad.mit.edu	37	12	94653466	94653466	+	Silent	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:94653466C>G	ENST00000258526.4	+	19	3456	c.3207C>G	c.(3205-3207)gtC>gtG	p.V1069V	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.V116V	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1069					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTTACTGTCATCCACACCC	0.373000													28	78					0	0	0.796494	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784099	156784099	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:156784099G>A	ENST00000392306.2	-	4	465	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SH2D2A_ENST00000368199.3_Intron|SH2D2A_ENST00000368198.3_Intron	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	103	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGTGACGGAGAGAGGGGG	0.652000													8	15					0	0	0.278610	0	0
ZP2	7783	broad.mit.edu	37	16	21209161	21209161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:21209161G>T	ENST00000574002.1	-	19	2503	c.2021C>A	c.(2020-2022)tCa>tAa	p.S674*	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.S665*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.S674*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	674					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TAGATCAGATGAGCCGACACC	0.483000													38	89					2.64894e-19	2.71181e-19	0.870114	1	0
RPLP2	6181	broad.mit.edu	37	11	812574	812574	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:812574T>A	ENST00000321153.4	+	4	606	c.212T>A	c.(211-213)gTa>gAa	p.V71E	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.V71E	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGGGCTGTAGCCGTCTCT	0.637000													20	34					0	0	0.693898	0	0
COL6A5	256076	broad.mit.edu	37	3	130159121	130159121	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:130159121A>G	ENST00000265379.6	+	35	6433	c.5939A>G	c.(5938-5940)aAg>aGg	p.K1980R	COL6A5_ENST00000432398.2_Missense_Mutation_p.K1980R			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1980	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GATGAGTTTAAGGCTGTGAAA	0.413000													12	29					0	0	0.411799	0	0
MEPE	56955	broad.mit.edu	37	4	88766882	88766882	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:88766882C>T	ENST00000497649.2	+	6	1168	c.790C>T	c.(790-792)Cca>Tca	p.P264S	MEPE_ENST00000424957.3_Missense_Mutation_p.P288S|MEPE_ENST00000361056.3_Missense_Mutation_p.P288S|MEPE_ENST00000540395.1_Missense_Mutation_p.P175S|MEPE_ENST00000560249.1_Missense_Mutation_p.P175S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.P319S			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	288					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTTTGCAGGCCCAAGTGAAGC	0.448000													14	34					0	0	0.479597	0	0
INTS4	92105	broad.mit.edu	37	11	77602489	77602489	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:77602489G>A	ENST00000534064.1	-	21	2502	c.2468C>T	c.(2467-2469)aCc>aTc	p.T823I	INTS4_ENST00000535943.1_Missense_Mutation_p.T198I|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	823					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTCGATGATGGTGGCTGAGGC	0.493000													3	24					0	0	0.217242	0	0
RYR2	6262	broad.mit.edu	37	1	237774281	237774281	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:237774281G>A	ENST00000366574.2	+	36	5220	c.4903G>A	c.(4903-4905)Gaa>Aaa	p.E1635K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1633K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1619K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1635	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCCCTGAGGAAAACAGGTC	0.542000													6	12					0	0	0.217242	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42165071	42165071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:42165071C>T	ENST00000444063.1	+	16	2008	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	L3MBTL1_ENST00000427442.2_Nonsense_Mutation_p.R694*|L3MBTL1_ENST00000373135.3_Nonsense_Mutation_p.R626*|L3MBTL1_ENST00000373134.1_Nonsense_Mutation_p.R631*|L3MBTL1_ENST00000418998.1_Nonsense_Mutation_p.R694*			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	626					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R694*(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCCGAAGTATCGAAAGATTCC	0.547000													44	103					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	8976592	8976592	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:8976592C>T	ENST00000397910.4	-	74	42587	c.42384G>A	c.(42382-42384)ctG>ctA	p.L14128L	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.L769L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14159	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGAGATCAGTTGGCAAC	0.562000													8	21					0	0	0.361761	0	0
KCNK18	338567	broad.mit.edu	37	10	118960782	118960782	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:118960782G>A	ENST00000334549.1	+	2	336	c.336G>A	c.(334-336)acG>acA	p.T112T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCTGCTGCACGGTGTTCAGCA	0.562000													29	39					0	0	0.729181	0	0
TRIML2	205860	broad.mit.edu	37	4	189022404	189022404	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:189022404C>T	ENST00000512729.1	-	3	510	c.135_splice	c.e3-1	p.E46_splice	TRIML2_ENST00000536972.1_Splice_Site_p.E96_splice|TRIML2_ENST00000326754.3_Splice_Site_p.E46_splice	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	46							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTTCCTCTTCCTTCCTCATA	0.343000													14	29					0	0	0.479597	0	0
WRB	7485	broad.mit.edu	37	21	40762629	40762629	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr21:40762629C>T	ENST00000333781.5	+	2	249	c.108C>T	c.(106-108)tcC>tcT	p.S36S	WRB_ENST00000380708.1_Silent_p.S2S|WRB_ENST00000398753.1_Silent_p.S2S|WRB_ENST00000541890.1_Silent_p.S36S|WRB_ENST00000466787.1_3'UTR	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	36						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				GCCAGATGTCCAGGGTGCTGC	0.587000													11	25					0	0	0.479597	0	0
GREM1	26585	broad.mit.edu	37	15	33022961	33022961	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:33022961G>A	ENST00000300177.4	+	2	259	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	GREM1_ENST00000560677.1_Missense_Mutation_p.G24R|GREM1_ENST00000560830.1_Missense_Mutation_p.G24R|GREM1_ENST00000322805.4_Missense_Mutation_p.G24R	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	24					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GGCTGCTGAAGGGAAAAAGAA	0.602000													33	44					0	0	0.788014	0	0
RELN	5649	broad.mit.edu	37	7	103629660	103629660	+	Silent	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:103629660C>G	ENST00000428762.1	-	1	303	c.144G>C	c.(142-144)ggG>ggC	p.G48G	RELN_ENST00000424685.2_Silent_p.G48G|RELN_ENST00000343529.5_Silent_p.G48G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	48	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTCCCCATCCCCTTCCAGCT	0.627000													22	93					0	0	0.667858	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960771	73960771	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:73960771C>T	ENST00000373468.1	-	3	4272	c.3621G>A	c.(3619-3621)ggG>ggA	p.G1207G	KIAA2022_ENST00000055682.5_Silent_p.G1207G			Q5QGS0	K2022_HUMAN	KIAA2022	1207					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTTTTCAATCCCCTTGTTGT	0.438000													14	50					0	0	0.500413	0	0
NOL4	8715	broad.mit.edu	37	18	31537398	31537398	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr18:31537398G>A	ENST00000261592.5	-	8	1617	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	NOL4_ENST00000538587.1_Silent_p.I366I|NOL4_ENST00000535384.1_Silent_p.I155I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	440						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATGAGTCAATGATAGCCTGGA	0.468000													9	44					0	0	0.335167	0	0
RNF17	56163	broad.mit.edu	37	13	25362126	25362126	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr13:25362126G>A	ENST00000255324.5	+	7	664	c.611_splice	c.e7-1	p.R204_splice	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Splice_Site_p.R204_splice|RNF17_ENST00000255325.5_Silent_p.R205R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	204					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAATGAAGGAAAAAGAACC	0.264000													15	62					0	0	0.539581	0	0
ZBED4	9889	broad.mit.edu	37	22	50277355	50277355	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr22:50277355C>T	ENST00000216268.4	+	2	522	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	15						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGTGATTTCGTTTCTGATA	0.383000													15	31					0	0	0.479597	0	0
ATRX	546	broad.mit.edu	37	X	76937624	76937624	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:76937624C>T	ENST00000373344.5	-	9	3338	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	ATRX_ENST00000395603.3_Missense_Mutation_p.G1004R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1042					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTTTCTCCATCAGTTGTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						16	74					0	0	0.479597	0	0
CASP5	838	broad.mit.edu	37	11	104874009	104874009	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:104874009G>A	ENST00000393141.2	-	4	605	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	CASP5_ENST00000531367.1_Missense_Mutation_p.H37Y|CASP5_ENST00000526056.1_Missense_Mutation_p.H192Y|CASP5_ENST00000418434.1_Missense_Mutation_p.H37Y|CASP5_ENST00000260315.3_Missense_Mutation_p.H179Y|CASP5_ENST00000444749.2_Missense_Mutation_p.H121Y|CASP5_ENST00000393139.2_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	179					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACCTCATCATGATTTTTTTTA	0.393000													42	79					0	0	0.870114	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293197	119293197	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:119293197C>T	ENST00000371388.3	+	2	546	c.356C>T	c.(355-357)tCg>tTg	p.S119L		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	119						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CAGCAGTATTCGCGCCCACAG	0.667000													3	16					0	0	0.115264	0	0
ZNF182	7569	broad.mit.edu	37	X	47836055	47836055	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47836055C>T	ENST00000396965.1	-	7	1781	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	ZNF182_ENST00000305127.6_Silent_p.Q477Q|ZNF182_ENST00000376943.3_Silent_p.Q458Q	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATGACCTCTCTGATGCAGCA	0.393000													11	55					0	0	0.479597	0	0
CD22	933	broad.mit.edu	37	19	35823807	35823807	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:35823807G>A	ENST00000085219.5	+	3	458	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	CD22_ENST00000536635.2_Missense_Mutation_p.R131Q|CD22_ENST00000594250.1_Missense_Mutation_p.R131Q|CD22_ENST00000270311.6_Missense_Mutation_p.R11Q|CD22_ENST00000544992.2_Missense_Mutation_p.R131Q|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R131Q|CD22_ENST00000595419.1_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	131	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGATGGAACGAATACACCTC	0.552000													24	58					0	0	0.717897	0	0
EPHA4	2043	broad.mit.edu	37	2	222307567	222307567	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:222307567C>T	ENST00000281821.2	-	11	2097	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	EPHA4_ENST00000409854.1_Missense_Mutation_p.E686K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E686K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E635K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	686	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCACGCCTTCCAAGTGAATG	0.453000													42	48					0	0	0.870114	0	0
ZNF566	84924	broad.mit.edu	37	19	36940432	36940432	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:36940432G>A	ENST00000454319.1	-	5	841	c.707C>T	c.(706-708)aCc>aTc	p.T236I	ZNF566_ENST00000493391.1_Missense_Mutation_p.T131I|ZNF566_ENST00000434377.2_Missense_Mutation_p.T235I|ZNF566_ENST00000424129.2_Missense_Mutation_p.T235I|ZNF566_ENST00000392170.2_Missense_Mutation_p.T236I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACAAATAAAGGTTTTTCCACA	0.403000													13	50					0	0	0.479597	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237497	140237497	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:140237497C>T	ENST00000307360.5	+	1	1864	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTTCGCGTGGGGCT	0.632000													26	57					0	0	0.706142	0	0
SRCAP	10847	broad.mit.edu	37	16	30749171	30749171	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:30749171C>G	ENST00000262518.4	+	34	8195	c.7810C>G	c.(7810-7812)Cct>Gct	p.P2604A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2542A|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2446A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2604	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTCTCTCACCCCTTCTGCACC	0.557000													21	61					0	0	0.681144	0	0
FAM46D	169966	broad.mit.edu	37	X	79699086	79699086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:79699086C>T	ENST00000538312.1	+	5	1382	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	FAM46D_ENST00000308293.5_Nonsense_Mutation_p.Q350*	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	350										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTGCTTTTATCAGCCTGCTCC	0.453000													26	41					0	0	0.717897	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150363	70150363	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:70150363C>T	ENST00000550536.1	+	3	935	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R144C|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R144C|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R160C|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R144C	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	160					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.R160S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTCTGTCTCGTTTACGAAG	0.393000													50	107					0	0	0.870114	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800612	74800612	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:74800612C>T	ENST00000305159.3	-	1	187	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CCACCAGGATCAGGGCATTAC	0.507000													13	62					0	0	0.500413	0	0
KITLG	4254	broad.mit.edu	37	12	88926227	88926227	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:88926227C>T	ENST00000347404.5	-	3	755	c.183G>A	c.(181-183)atG>atA	p.M61I	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.M61I|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	61					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCAAAACATCCATCCCGGGGA	0.333000									Testicular Cancer, Familial Clustering of				42	113					0	0	0.870114	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634835	122634835	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:122634835C>T	ENST00000249284.2	-	1	919	c.854G>A	c.(853-855)aGg>aAg	p.R285K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	285					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTTAGAATCCTTTTCAACGT	0.423000													38	167					0	0	0.870114	0	0
LMCD1	29995	broad.mit.edu	37	3	8590277	8590277	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:8590277C>T	ENST00000157600.3	+	4	643	c.411C>T	c.(409-411)atC>atT	p.I137I	LMCD1_ENST00000454244.1_Silent_p.I64I|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.I25I|LMCD1_ENST00000535732.1_Silent_p.I137I	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	137	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TGGAGCTCATCCCCAAGGAGA	0.557000													26	28					0	0	0.717897	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895503	42895503	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:42895503G>A	ENST00000399770.2	+	1	220	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	74					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGATGAGAATGAGAATGACCA	0.463000													56	105					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54919198	54919198	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:54919198G>A	ENST00000545554.1	+	32	6532	c.6532G>A	c.(6532-6534)Gat>Aat	p.D2178N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D2178N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2176N|UNC13C_ENST00000539562.2_Missense_Mutation_p.D99N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2178					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCTCTATGGATGAAACTGG	0.383000													31	58					0	0	0.769981	0	0
DMBT1	1755	broad.mit.edu	37	10	124345772	124345772	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:124345772C>T	ENST00000338354.3	+	16	1762	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	DMBT1_ENST00000368955.3_Silent_p.G542G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.G552G|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.G542G|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	552	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.592000													98	81					0	0	0.870114	0	0
NPAS4	266743	broad.mit.edu	37	11	66192167	66192167	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:66192167C>T	ENST00000311034.2	+	7	1982	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	602					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGTGGATGTCCCCCTGGTGC	0.582000													21	96					0	0	0.667858	0	0
RBM27	54439	broad.mit.edu	37	5	145638042	145638042	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:145638042C>T	ENST00000265271.5	+	11	1791	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	RBM27_ENST00000506502.1_Missense_Mutation_p.P487L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	542					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGAACCACCAGTTCCTGTT	0.358000													24	63					0	0	0.760397	0	0
IGF1	3479	broad.mit.edu	37	12	102811662	102811662	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr12:102811662C>T	ENST00000307046.8	-	4	703	c.522G>A	c.(520-522)aaG>aaA	p.K174K	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000337514.6_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	174					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GCTCTTTCTTCTTTCCTCTGA	0.468000													250	346					0	0	0.870114	0	0
SERAC1	84947	broad.mit.edu	37	6	158537289	158537289	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:158537289C>T	ENST00000367104.3	-	14	1560	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	SERAC1_ENST00000367101.1_Silent_p.T491T|SERAC1_ENST00000367102.2_Silent_p.T491T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	477					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTAAGAAGTTCGTTGCTTCTG	0.438000													24	49					0	0	0.706142	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045297	142045297	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:142045297G>A	ENST00000390392.3	+	0	46																											AGGCCAAGGAGACCAGAGCCC	0.577000													26	71					0	0	0.667858	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685886	125685886	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:125685886C>T	ENST00000371126.1	-	1	948	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	236								p.E236*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGACCCACCTCGCTATGCCAG	0.652000													23	28					0	0	0.667858	0	0
SDK2	54549	broad.mit.edu	37	17	71364676	71364676	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:71364676G>A	ENST00000392650.3	-	37	5037	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	SDK2_ENST00000388726.3_Silent_p.F1660F|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1679	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTCAGCCAGGAAAAGCGTCT	0.587000													8	5					0	0	0.307466	0	0
USP9X	8239	broad.mit.edu	37	X	41075851	41075851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:41075851C>T	ENST00000324545.7	+	35	6664	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2011*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2011					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGAGTATTTTCAGTTTATGAA	0.363000													22	34					0	0	0.654019	0	0
KCND2	3751	broad.mit.edu	37	7	120385840	120385840	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:120385840G>A	ENST00000331113.4	+	5	2439	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	492					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACAGAATCACGAGTTTGTGGA	0.378000													34	28					0	0	0.819951	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101775612	101775612	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:101775612G>A	ENST00000334289.3	-	5	967	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	124					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TAGTCAAAAGGAGAACTCTAT	0.363000													9	54					0	0	0.361761	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109850	95109850	+	RNA	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:95109850G>A	ENST00000469935.1	+	0	887					NR_015340.1																						CAGCCCAAAGGAGTTCTTTGT	0.582000													12	26					0	0	0.457914	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:39162039G>A	ENST00000359534.3	-	4	878	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000													30	75					0	0	0.779181	0	0
CPS1	1373	broad.mit.edu	37	2	211542633	211542633	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr2:211542633C>T	ENST00000233072.5	+	38	4623	c.4427C>T	c.(4426-4428)gCt>gTt	p.A1476V	CPS1_ENST00000430249.2_Missense_Mutation_p.A1482V|CPS1_ENST00000451903.2_Missense_Mutation_p.A1025V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1476					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTGCTGAAGCTGTGCAGAAA	0.428000													157	136					0	0	0.870114	0	0
ARID3B	10620	broad.mit.edu	37	15	74883771	74883771	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:74883771G>A	ENST00000346246.5	+	6	1392	c.1161G>A	c.(1159-1161)agG>agA	p.R387R		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCACTCTCAGGAAAGGTCAGC	0.562000													57	88					0	0	0.870114	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080315	70080315	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:70080315G>A	ENST00000446444.1	-	1	134	c.126C>T	c.(124-126)atC>atT	p.I42I	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	42					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCTTTCAGGATTGTCTTCA	0.433000													58	163					0	0	0.870114	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484800	45484800	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:45484800G>A	ENST00000359600.5	-	14	3089	c.2884C>T	c.(2884-2886)Cca>Tca	p.P962S		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	962							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGCTCTGTGGATCCTTCATA	0.542000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	60					0	0	0.750413	0	0
FBXW7	55294	broad.mit.edu	37	4	153251889	153251889	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:153251889G>A	ENST00000281708.4	-	7	2346	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	FBXW7_ENST00000263981.5_Missense_Mutation_p.P293S|FBXW7_ENST00000603548.1_Missense_Mutation_p.P373S|FBXW7_ENST00000603841.1_Missense_Mutation_p.P373S|FBXW7_ENST00000296555.5_Missense_Mutation_p.P255S|FBXW7_ENST00000393956.3_Missense_Mutation_p.P197S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	373					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTACCTTAGGAGATTTGAGT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								60	103					0	0	0.870114	0	0
SSX6	280657	broad.mit.edu	37	X	47970732	47970732	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47970732G>A	ENST00000376932.2	+	4	347	c.273G>A	c.(271-273)ggG>ggA	p.G91G	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GTAACCGTGGGAATGAGGGTG	0.488000													14	19					0	0	0.457914	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328846	23328846	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:23328846C>T	ENST00000597761.2	+	4	1199	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATAATGGAGA	0.353000													10	32					0	0	0.361761	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520822	69520822	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:69520822C>T	ENST00000338206.5	-	4	1093	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	362					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAAGAAGGTCATTCTGGGGT	0.353000													29	137					0	0	0.788014	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:6007457G>A	ENST00000332249.4	-	1	758	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000													46	94					0	0	0.870114	0	0
NRGN	4900	broad.mit.edu	37	11	124615495	124615495	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:124615495C>T	ENST00000526916.2	+	2	252	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.1_Missense_Mutation_p.R38W|NRGN_ENST00000284292.5_Missense_Mutation_p.R38W			Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	38	IQ.				nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGCGAGTTTTCGGGGCCACAT	0.706000													7	21					0	0	0.307466	0	0
TAB3	257397	broad.mit.edu	37	X	30870900	30870900	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:30870900G>A	ENST00000378933.1	-	4	1882	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	TAB3_ENST00000378930.3_Missense_Mutation_p.P569S|TAB3_ENST00000378932.2_Missense_Mutation_p.P569S|TAB3_ENST00000378928.1_Missense_Mutation_p.P20S|TAB3_ENST00000288422.2_Missense_Mutation_p.P569S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	569					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CTTACCGTAGGGATCGCAGTG	0.473000													11	65					0	0	0.500413	0	0
MYH15	22989	broad.mit.edu	37	3	108172924	108172924	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr3:108172924G>A	ENST00000273353.3	-	22	2444	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	796	IQ.					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						ACAATGTGAAGACTTTAGATA	0.428000													18	43					0	0	0.592651	0	0
C20orf26	26074	broad.mit.edu	37	20	20168620	20168620	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr20:20168620G>A	ENST00000245957.5	+	14	1508	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	478										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCTGGTGTGGAAAATCTTGT	0.398000													50	77					0	0	0.870114	0	0
ARID5B	84159	broad.mit.edu	37	10	63851859	63851859	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:63851859C>T	ENST00000279873.7	+	10	3047	c.2637C>T	c.(2635-2637)ctC>ctT	p.L879L	ARID5B_ENST00000309334.5_Silent_p.L636L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	879					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGAAAAGCTCCATGTAAATT	0.478000													21	33					0	0	0.639603	0	0
OR4K1	79544	broad.mit.edu	37	14	20404636	20404636	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:20404636C>T	ENST00000285600.4	+	1	870	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L271F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGACAAATTTCTTTCTGTGTT	0.418000													23	69					0	0	0.639603	0	0
WHAMM	123720	broad.mit.edu	37	15	83499403	83499403	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:83499403C>T	ENST00000286760.4	+	9	1793	c.1694C>T	c.(1693-1695)cCa>cTa	p.P565L		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	565						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CCTGTGGCTCCAAACCTGCCA	0.502000													88	202					0	0	0.870114	0	0
TRIM27	5987	broad.mit.edu	37	6	28887948	28887948	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:28887948A>T	ENST00000377199.3	-	3	944	c.588T>A	c.(586-588)caT>caA	p.H196Q	TRIM27_ENST00000377194.3_Missense_Mutation_p.H196Q|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	196					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCGATACTCATGCTCCTTTA	0.507000			T	RET	papillary thyroid								76	132					0	0	0.870114	0	0
CEP135	9662	broad.mit.edu	37	4	56890735	56890735	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:56890735C>T	ENST00000257287.4	+	25	3513	c.3389C>T	c.(3388-3390)tCt>tTt	p.S1130F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1130					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.S1130C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACTCTGAGGTCTCCTTCACAT	0.398000													95	253					0	0	0.870114	0	0
EMR1	2015	broad.mit.edu	37	19	6906493	6906493	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:6906493C>T	ENST00000312053.4	+	9	1036	c.999C>T	c.(997-999)atC>atT	p.I333I	EMR1_ENST00000450315.3_Silent_p.I156I|EMR1_ENST00000381404.4_Silent_p.I281I|EMR1_ENST00000381407.5_Silent_p.I192I|EMR1_ENST00000250572.8_Silent_p.I333I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	333	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATAAGCAGATCCAGCAATGCC	0.393000													26	50					0	0	0.729181	0	0
MYH6	4624	broad.mit.edu	37	14	23855722	23855722	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr14:23855722C>T	ENST00000405093.3	-	33	4831	c.4761G>A	c.(4759-4761)caG>caA	p.Q1587Q	MYH6_ENST00000356287.3_Silent_p.Q1587Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1587					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCGCTTGGCCTGTTCCATCT	0.607000													92	210					0	0	0.870114	0	0
FAM217A	222826	broad.mit.edu	37	6	4073562	4073562	+	Silent	SNP	C	C	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:4073562C>T	ENST00000274673.3	-	6	652	c.249G>A	c.(247-249)ggG>ggA	p.G83G	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	83																	ATTGAAAGATCCCTTGTTTAC	0.279000													29	70					0	0	0.788014	0	0
C9	735	broad.mit.edu	37	5	39306872	39306872	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:39306872G>A	ENST00000263408.4	-	9	1358	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CATCATCTATGAGGTTTTCAC	0.373000													17	32					0	0	0.520397	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762233	130762233	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr6:130762233G>A	ENST00000392429.1	+	2	3044	c.666G>A	c.(664-666)atG>atA	p.M222I	TMEM200A_ENST00000545622.1_Missense_Mutation_p.M222I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.M222I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	222						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTTTTCGAATGGACAGCTCCG	0.483000													12	32					0	0	0.387290	0	0
MGAM	8972	broad.mit.edu	37	7	141800675	141800675	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:141800675G>A	ENST00000475668.2	+	68	8002	c.7948G>A	c.(7948-7950)Gat>Aat	p.D2650N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1754N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1754					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCTGGGATGATGGGCAAAG	0.502000													8	36					0	0	0.307466	0	0
SF3A3	10946	broad.mit.edu	37	1	38433717	38433717	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:38433717G>A	ENST00000373019.4	-	15	2326	c.1372_splice	c.e15+1	p.S457_splice	SF3A3_ENST00000448721.2_Splice_Site_p.S404_splice	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	457					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTACTTACAGGAGACAGCAT	0.453000													83	199					0	0	0.870114	0	0
MGEA5	10724	broad.mit.edu	37	10	103553686	103553686	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:103553686A>G	ENST00000361464.3	-	11	2449	c.2054T>C	c.(2053-2055)cTa>cCa	p.L685P	MGEA5_ENST00000482611.1_Intron|MGEA5_ENST00000357797.5_Missense_Mutation_p.L632P|MGEA5_ENST00000439817.1_Missense_Mutation_p.L632P	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	685	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCCTGCTAGACCACCTCT	0.428000													4	159					0	0	0.150653	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310403	57310403	+	Silent	SNP	G	G	A			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:57310403G>A	ENST00000457912.1	+	2	342	c.342G>A	c.(340-342)aaG>aaA	p.K114K	SMTNL1_ENST00000399154.2_Silent_p.K96K|SMTNL1_ENST00000527972.1_Silent_p.K96K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	96										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AACTTAAAAAGGAGGATGGTG	0.498000													2	6					0	0	0.115264	0	0
NEXN	91624	broad.mit.edu	37	1	78383723	78383738	+	Splice_Site	DEL	GGTAAGAAGCTTGAGG	GGTAAGAAGCTTGAGG	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr1:78383723_78383738delGGTAAGAAGCTTGAGG	ENST00000330010.8	+	3	403	c.106_splice	c.e3+1	p.36_splice	NEXN_ENST00000334785.7_Splice_Site_p.100_splice|NEXN_ENST00000294624.8_Splice_Site_p.100_splice|NEXN_ENST00000457030.1_Splice_Site_p.100_splice	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	100					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAATTAACAGGTAAGAAGCTTGAGGGGTAAATAGT	0.287													13	109	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389206	1389207	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr4:1389206_1389207delCA	ENST00000324803.4	+	1	3867_3868	c.907_908delCA	c.(907-909)cfs	p.H303fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	303					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCGA	0.673													7	667	---	---	---	---					
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423													8	354	---	---	---	---					
TENM2	57451	broad.mit.edu	37	5	167625861	167625861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr5:167625861delC	ENST00000519204.1	+	15	2659	c.2541delC	c.(2539-2541)ttfs	p.F847fs	TENM2_ENST00000403607.2_Frame_Shift_Del_p.F792fs|TENM2_ENST00000518659.1_Frame_Shift_Del_p.F968fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.F736fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.F968fs					teneurin transmembrane protein 2																		TCTCCAGGTTCGACCTGATCG	0.557													59	169	---	---	---	---					
COL1A2	1278	broad.mit.edu	37	7	94050333	94050333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr7:94050333delC	ENST00000297268.6	+	38	2779	c.2308delC	c.(2308-2310)ccfs	p.P771fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	771			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAAATGGTCCCCCCGGTCC	0.453										HNSCC(75;0.22)			7	180	---	---	---	---					
ISCA1	81689	broad.mit.edu	37	9	88881100	88881101	+	Frame_Shift_Ins	INS	-	-	TT	rs140944675		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:88881100_88881101insTT	ENST00000375991.4	-	4	317_318	c.247_248insAA	c.(247-249)agtfs	p.S83fs	ISCA1_ENST00000452279.2_Frame_Shift_Ins_p.S130fs|ISCA1_ENST00000311534.6_5'UTR	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	83					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		GATGAATACTCTGACTCCTTGG	0.376													32	95	---	---	---	---					
LCN10	414332	broad.mit.edu	37	9	139635711	139635712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr9:139635711_139635712insT	ENST00000497771.1	-	3	414_415	c.359_360insA	c.(358-360)cgafs	p.R120fs	LCN10_ENST00000474369.1_Intron|LCN10_ENST00000527229.1_Frame_Shift_Ins_p.R120fs|LCN6_ENST00000435202.1_Intron	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	107					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CACCTCCCTCCTGTCCTTCCCT	0.649													14	29	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													3	6	---	---	---	---					
DYNC2H1	79659	broad.mit.edu	37	11	103090657	103090657	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:103090657delA	ENST00000375735.2	+	56	8990	c.8846delA	c.(8845-8847)cafs	p.Q2949fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.Q2949fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2949	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTGAGCAAAAAACAGAA	0.259													2	4	---	---	---	---					
TRAPPC4	51399	broad.mit.edu	37	11	118895613	118895613	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr11:118895613delA	ENST00000533058.1	+	5	658	c.628delA	c.(628-630)ctfs	p.T210fs	SLC37A4_ENST00000538950.1_3'UTR|SLC37A4_ENST00000330775.7_3'UTR|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_3'UTR|SLC37A4_ENST00000545985.1_3'UTR			Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	0					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CGGAACCTGGACTCTCTTCAC	0.607													9	14	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													7	587	---	---	---	---					
GANC	2595	broad.mit.edu	37	15	42632918	42632918	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr15:42632918delA	ENST00000318010.8	+	18	2358	c.2118delA	c.(2116-2118)ctfs	p.L706fs		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	706					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CTGATGAACTAAAGACTTTTG	0.353													36	111	---	---	---	---					
VPS4A	27183	broad.mit.edu	37	16	69355168	69355168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:69355168delA	ENST00000254950.11	+	9	1222	c.1066delA	c.(1066-1068)aafs	p.K357fs	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	357					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CACACACTTCAAAAAGGTGAG	0.587													2	4	---	---	---	---					
USP10	9100	broad.mit.edu	37	16	84779250	84779250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr16:84779250delC	ENST00000219473.7	+	4	1276	c.1163delC	c.(1162-1164)tafs	p.S388fs	USP10_ENST00000570191.1_Frame_Shift_Del_p.S392fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	388					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTTCCGGTTTCAGAGGATCCT	0.468													9	19	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													4	7	---	---	---	---					
PRKAR1A	5573	broad.mit.edu	37	17	66511673	66511673	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr17:66511673delA	ENST00000589228.1	+	2	261	c.133delA	c.(133-135)gafs	p.R45fs	PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000588188.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.R45fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	45	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TCGACCTGAGAGACCCATGGC	0.453			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				17	28	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chr19:45567607_45567609delCTC	ENST00000544944.2	+	12	1820_1822	c.1128_1130delCTC	c.(1126-1131)cgc>cg	p.RS376del	CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	376	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744													6	12	---	---	---	---					
SYN1	6853	broad.mit.edu	37	X	47434113	47434113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BF-A3DL-01A-11D-A20D-08	TCGA-BF-A3DL-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69e158a8-b36a-41ca-b734-95f28e6678da	37fb4b74-e0ed-42d7-9460-05778af2eaf5	g.chrX:47434113delG	ENST00000295987.7	-	11	1491	c.1367delC	c.(1366-1368)cgfs	p.P456fs	SYN1_ENST00000340666.4_Frame_Shift_Del_p.P456fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	456	D; Pro-rich linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTGCTGAGCCGGGGGCCCTGC	0.672													2	4	---	---	---	---					
